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
LAMA1	284217	broad.mit.edu	37	18	7038844	7038844	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:7038844C>T	ENST00000389658.3	-	11	1621	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	510	Laminin EGF-like 5; first part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.D510N(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCAGACATCAGAAACGCCA	0.567000													15	179					0	0	0.024245	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593787	45593787	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:45593787G>A	ENST00000336156.5	-	9	1123	c.1058C>T	c.(1057-1059)tCg>tTg	p.S353L	KIAA0930_ENST00000443310.3_Missense_Mutation_p.S335L|KIAA0930_ENST00000251993.7_Missense_Mutation_p.S358L|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S319L	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding	p.S358L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCCTGTGCCCGACAGGGACCG	0.607000													13	91					0	0	0.020292	0	0
OR5K2	402135	broad.mit.edu	37	3	98216586	98216586	+	Missense_Mutation	SNP	C	C	T	rs143260385	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:98216586C>T	ENST00000427338.1	+	1	139	c.62C>T	c.(61-63)cCt>cTt	p.P21L		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21L(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAGATCACCCTGAGCTGAAG	0.413000													14	256					0	0	0.020292	0	0
REV1	51455	broad.mit.edu	37	2	100019387	100019387	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:100019387G>A	ENST00000258428.3	-	20	3577	c.3349C>T	c.(3349-3351)Cta>Tta	p.L1117L	REV1_ENST00000393445.3_Silent_p.L1116L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1117					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.L1117L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATGTTTTAGAAACCCATCA	0.408000								Direct reversal of damage					12	154					0	0	0.093190	0	0
USP32	84669	broad.mit.edu	37	17	58286164	58286164	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:58286164T>C	ENST00000300896.4	-	23	2818	c.2624A>G	c.(2623-2625)aAt>aGt	p.N875S	USP32_ENST00000592339.1_Missense_Mutation_p.N545S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	875					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.N875S(1)		NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGATCTATTTCTTCTTAG	0.348000													14	115					0	0	0.038395	0	0
PRPF3	9129	broad.mit.edu	37	1	150325402	150325402	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:150325402G>A	ENST00000324862.6	+	16	2164	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	PRPF3_ENST00000414970.2_Missense_Mutation_p.E618K|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	667					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	p.E667K(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCATGGGGCTGAACACTACTG	0.488000													11	135					0	0	0.069234	0	0
FAT3	120114	broad.mit.edu	37	11	92533128	92533128	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:92533128G>C	ENST00000298047.6	+	9	6966	c.6949G>C	c.(6949-6951)Gaa>Caa	p.E2317Q	FAT3_ENST00000409404.2_Missense_Mutation_p.E2317Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E2167Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2317	Cadherin 21.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E2317Q(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCAGACTCAGAAAACAATAA	0.388000										TCGA Ovarian(4;0.039)			5	39					0	0	0.014758	0	0
TDRP	157695	broad.mit.edu	37	8	442629	442629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:442629C>A	ENST00000324079.6	-	3	568	c.328G>T	c.(328-330)Gag>Tag	p.E110*	TDRP_ENST00000524229.1_Intron|TDRP_ENST00000427263.2_Nonsense_Mutation_p.E110*|TDRP_ENST00000523656.1_Nonsense_Mutation_p.E110*					testis development related protein									p.E110*(1)									TTTGGAGGCTCCCAACCTTCA	0.468000													9	73					1.12685e-05	1.1942e-05	0.047766	1	0
FSIP2	401024	broad.mit.edu	37	2	186670315	186670315	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:186670315A>C	ENST00000343098.5	+	17	16549	c.16549A>C	c.(16549-16551)Aca>Cca	p.T5517P	FSIP2_ENST00000424728.1_Missense_Mutation_p.T5428P	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.T126P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAACACCTTTACACAAATAAG	0.378000													10	148					0	0	0.069234	0	0
SUPT6H	6830	broad.mit.edu	37	17	27000447	27000447	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:27000447G>A	ENST00000314616.6	+	2	311	c.28G>A	c.(28-30)Gag>Aag	p.E10K	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E10K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	10	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.E10K(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAGCGAGGCTGAGGAGTCAGA	0.483000													8	47					0	0	0.038147	0	0
EIF3M	10480	broad.mit.edu	37	11	32622318	32622318	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:32622318G>C	ENST00000531120.1	+	9	946	c.883G>C	c.(883-885)Gac>Cac	p.D295H	EIF3M_ENST00000524896.1_Missense_Mutation_p.D163H	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	295	PCI.					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.D295H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					AATTTCTTTTGACACAATGCA	0.343000													17	156					0	0	0.038395	0	0
IFT52	51098	broad.mit.edu	37	20	42271258	42271258	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:42271258G>C	ENST00000373030.3	+	13	1390	c.1260G>C	c.(1258-1260)ttG>ttC	p.L420F	IFT52_ENST00000373039.4_Missense_Mutation_p.L420F|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	420						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	p.L420F(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAAGAAATTGAACCAGGTAC	0.463000													5	60					0	0	0.029380	0	0
TAF9	6880	broad.mit.edu	37	5	68661350	68661350	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:68661350C>T	ENST00000328663.4	-	3	681	c.215G>A	c.(214-216)cGa>cAa	p.R72Q	TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.R72Q|TAF9_ENST00000217893.5_Missense_Mutation_p.R72Q|TAF9_ENST00000380818.3_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.R72Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GATTGCCAATCGCACATCATC	0.418000													14	144					0	0	0.020292	0	0
PDS5A	23244	broad.mit.edu	37	4	39905710	39905710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:39905710C>T	ENST00000303538.8	-	12	1874	c.1335G>A	c.(1333-1335)tgG>tgA	p.W445*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.W445*	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	445					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.W445*(2)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGTCCTTTATCCAGCTGACTT	0.383000													3	34					0	0	0.009096	0	0
EXTL2	2135	broad.mit.edu	37	1	101339508	101339508	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:101339508C>G	ENST00000370114.3	-	5	2419	c.983G>C	c.(982-984)aGa>aCa	p.R328T	EXTL2_ENST00000370113.3_Missense_Mutation_p.R328T|EXTL2_ENST00000535414.1_Missense_Mutation_p.R315T	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	328					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	p.R328T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTATATTTTTCTTTTGTAGTT	0.299000													11	97					0	0	0.080935	0	0
ZNF830	91603	broad.mit.edu	37	17	33289675	33289675	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:33289675G>A	ENST00000361952.3	+	1	1127	c.1090G>A	c.(1090-1092)Gat>Aat	p.D364N		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	364					cell division|mitosis	cytoplasm|nucleus	metal ion binding	p.D364N(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GTTGTCTCAGGATTGGAGGGT	0.413000													4	143					0	0	0.009096	0	0
GPR133	283383	broad.mit.edu	37	12	131488789	131488789	+	Silent	SNP	G	G	A	rs73473278	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:131488789G>A	ENST00000261654.5	+	11	1762	c.1203G>A	c.(1201-1203)ccG>ccA	p.P401P	GPR133_ENST00000535015.1_Silent_p.P433P|GPR133_ENST00000376682.4_Silent_p.P87P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	401					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P401P(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACCGCTTCCCGGCCCACGGGC	0.632000													5	32					0	0	0.029380	0	0
PCDH15	65217	broad.mit.edu	37	10	55600095	55600095	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:55600095C>G	ENST00000373965.2	-	30	4383	c.3989G>C	c.(3988-3990)aGa>aCa	p.R1330T	PCDH15_ENST00000320301.6_Missense_Mutation_p.R1323T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1323T|PCDH15_ENST00000409834.1_Missense_Mutation_p.R934T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1286T|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1301T|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1323T|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1252T|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1328T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1323T|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1330T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1323					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1323T(2)|p.R1328T(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGCTCATTTCTATCGATGGC	0.408000										HNSCC(58;0.16)			44	117					0	0	0.042209	0	0
GTF2H1	2965	broad.mit.edu	37	11	18361114	18361114	+	Translation_Start_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:18361114G>A	ENST00000524753.4	+	0	62				GTF2H1_ENST00000453096.2_Missense_Mutation_p.D173N|GTF2H1_ENST00000534641.1_Missense_Mutation_p.D57N|GTF2H1_ENST00000265963.4_Missense_Mutation_p.D173N			P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa						mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|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|viral reproduction	holo TFIIH complex	protein binding	p.D173N(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GTTTTAGGCTGATGTCCGGCC	0.423000								Nucleotide excision repair (NER)					9	92					0	0	0.069234	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704805	52704805	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704805C>T	ENST00000287727.3	+	4	1888	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	ZFYVE9_ENST00000357206.2_Silent_p.I572I|ZFYVE9_ENST00000371591.1_Silent_p.I572I			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	572					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.I572I(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGCCATCTATCAGTGTTCCTT	0.393000													15	87					0	0	0.024245	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523515	42523515	+	Silent	SNP	G	G	A	rs149686350		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:42523515G>A	ENST00000360608.5	-	7	1221	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.I318I|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.I369I	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	369							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.I318I(1)|p.I369I(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGGGGGACGATGTCCCCAA	0.612000													4	41					0	0	0.014758	0	0
GPR151	134391	broad.mit.edu	37	5	145894520	145894520	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:145894520A>T	ENST00000311104.2	-	1	1233	c.1157T>A	c.(1156-1158)gTa>gAa	p.V386E		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	386						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V386E(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCTCTACGTCAGGAAG	0.502000													23	49					0	0	0.076483	0	0
LRRC6	23639	broad.mit.edu	37	8	133623581	133623581	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:133623581C>T	ENST00000519595.1	-	9	1101	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	LRRC6_ENST00000250173.1_Missense_Mutation_p.D335N|LRRC6_ENST00000518642.1_Missense_Mutation_p.D335N			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	335	CS.					cytoplasm		p.D335N(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTTGCACATCAACATCGATT	0.308000													4	60					0	0	0.014758	0	0
CNTN6	27255	broad.mit.edu	37	3	1418703	1418703	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:1418703C>T	ENST00000446702.2	+	17	2737	c.2110C>T	c.(2110-2112)Cca>Tca	p.P704S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P704S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P632S			Q9UQ52	CNTN6_HUMAN	contactin 6	704	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.P704S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTTGTGGCACCAGTAAACAT	0.378000													8	211					0	0	0.047766	0	0
C8orf76	84933	broad.mit.edu	37	8	124250182	124250182	+	Splice_Site	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:124250182C>G	ENST00000276704.4	-	3	265		c.e3-1		ZHX1-C8ORF76_ENST00000357082.4_Splice_Site|C8orf76_ENST00000521310.1_Splice_Site	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76								binding	p.?(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGTGCTTTCTGGAAATTAT	0.378000													7	96					0	0	0.047766	0	0
MICAL2	9645	broad.mit.edu	37	11	12248645	12248645	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:12248645C>G	ENST00000256194.4	+	15	2250	c.1962C>G	c.(1960-1962)ctC>ctG	p.L654L	MICAL2_ENST00000342902.5_Silent_p.L654L|MICAL2_ENST00000379612.3_Silent_p.L654L|MICAL2_ENST00000527546.1_Silent_p.L654L|MICAL2_ENST00000537344.1_Silent_p.L654L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	654						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.L654L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATAACTATCTCAACCTCACAT	0.443000													12	58					0	0	0.093190	0	0
ACACA	31	broad.mit.edu	37	17	35512649	35512649	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:35512649G>A	ENST00000353139.5	-	43	5884	c.5403C>T	c.(5401-5403)ctC>ctT	p.L1801L	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Silent_p.L1764L|ACACA_ENST00000335166.5_Silent_p.L1686L|ACACA_ENST00000360679.3_Silent_p.L1706L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1764	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L1801L(1)|p.L1706L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGACAGAGTTGAGAGCACTGA	0.358000													43	312					0	0	0.048971	0	0
NLRC5	84166	broad.mit.edu	37	16	57065331	57065331	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:57065331C>T	ENST00000436936.1	+	11	2658	c.2433C>T	c.(2431-2433)atC>atT	p.I811I	NLRC5_ENST00000262510.6_Silent_p.I811I|NLRC5_ENST00000539144.1_Silent_p.I811I|NLRC5_ENST00000308149.7_Silent_p.I811I			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	811					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.I811I(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CGGACCTCATCTTCCTTCTTT	0.562000													4	48					0	0	0.009096	0	0
HOXA1	3198	broad.mit.edu	37	7	27135406	27135406	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:27135406G>A	ENST00000343060.4	-	1	187	c.126C>T	c.(124-126)gtC>gtT	p.V42V	HOTAIRM1_ENST00000495032.1_RNA|HOXA1_ENST00000355633.5_Silent_p.V42V	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	42						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V42V(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTTGGCGCTGACCGCGCACG	0.647000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	104					0	0	0.080935	0	0
LASP1	3927	broad.mit.edu	37	17	37046755	37046755	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:37046755C>T	ENST00000318008.6	+	3	578	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	LASP1_ENST00000435347.3_Nonsense_Mutation_p.Q83*|LASP1_ENST00000433206.2_Intron	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	83						cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	p.Q83*(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GCTCCAGAGTCAGGTGAGGGG	0.597000			T	MLL	AML								13	67					0	0	0.020292	0	0
HEATR5B	54497	broad.mit.edu	37	2	37287790	37287790	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:37287790C>G	ENST00000233099.5	-	12	1878	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E595Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	595							binding	p.E595Q(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CGGGCCTTCTCAGCTTCCAAT	0.448000													13	130					0	0	0.093190	0	0
MATK	4145	broad.mit.edu	37	19	3781668	3781668	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:3781668C>T	ENST00000310132.6	-	8	1077	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	MATK_ENST00000585778.1_Missense_Mutation_p.G227S|MATK_ENST00000395040.2_Missense_Mutation_p.G186S|MATK_ENST00000395045.2_Missense_Mutation_p.G228S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	227					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G228S(1)|p.G227S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTAACCAGCCCGCTGTGGAG	0.557000													3	41					0	0	0.009096	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391337	1391337	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:1391337C>T	ENST00000324385.5	+	8	841	c.683C>T	c.(682-684)tCg>tTg	p.S228L	BAIAP3_ENST00000568887.1_Missense_Mutation_p.S165L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S210L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S193L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S170L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S193L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S210L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	228	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.S228L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CTGCCTGCCTCGGACGCCACG	0.706000													9	29					0	0	0.069234	0	0
FLG	2312	broad.mit.edu	37	1	152275916	152275916	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152275916C>G	ENST00000368799.1	-	3	11481	c.11446G>C	c.(11446-11448)Gag>Cag	p.E3816Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3816	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E3816Q(1)|p.E3816K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTTCCTCATTACGTGTT	0.577000									Ichthyosis				8	612					0	0	0.038147	0	0
GPR133	283383	broad.mit.edu	37	12	131484985	131484985	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:131484985G>C	ENST00000261654.5	+	9	1583	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	GPR133_ENST00000535015.1_Missense_Mutation_p.E374Q	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	342					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E342Q(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCTCTGTCAGAGGTAAGAGA	0.502000													11	93					0	0	0.020292	0	0
PLAUR	5329	broad.mit.edu	37	19	44169603	44169603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:44169603C>T	ENST00000221264.4	-	3	601	c.175G>A	c.(175-177)Gag>Aag	p.E59K	PLAUR_ENST00000339082.3_Missense_Mutation_p.E59K|PLAUR_ENST00000601723.1_Missense_Mutation_p.E59K|PLAUR_ENST00000340093.3_Missense_Mutation_p.E59K	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	59	UPAR/Ly6 1.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	p.E59K(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGCTCCAGCTCTTCTCCTTCT	0.557000													6	89					0	0	0.021553	0	0
FNIP1	96459	broad.mit.edu	37	5	131007915	131007915	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:131007915G>A	ENST00000307968.7	-	13	2137	c.2138C>T	c.(2137-2139)tCa>tTa	p.S713L	FNIP1_ENST00000307954.8_Missense_Mutation_p.S696L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.S741L	NM_001008738.2	NP_001008738			folliculin interacting protein 1									p.S741L(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACAAGAAAATGAAGCAGGCAC	0.453000													21	199					0	0	0.049695	0	0
ZNF410	57862	broad.mit.edu	37	14	74360609	74360609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:74360609C>A	ENST00000555044.1	+	3	337	c.143C>A	c.(142-144)tCa>tAa	p.S48*	ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000442160.3_Nonsense_Mutation_p.S48*|ZNF410_ENST00000324593.6_Nonsense_Mutation_p.S48*|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Nonsense_Mutation_p.S48*	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S48*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ACTGAAGCCTCAGAATGCAGT	0.418000													62	103					1.1362e-29	1.25009e-29	0.048971	1	0
EPG5	57724	broad.mit.edu	37	18	43495477	43495477	+	Splice_Site	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:43495477T>A	ENST00000282041.5	-	20	3726	c.3692A>T	c.(3691-3693)cAg>cTg	p.Q1231L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1231					autophagy			p.Q1231L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GTTTCCTACCTGAGTGGGCGT	0.428000													26	84					0	0	0.083992	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820718	26820718	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:26820718C>T	ENST00000444914.3	+	7	1575	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	SLC13A2_ENST00000537681.1_Silent_p.F265F|SLC13A2_ENST00000545060.1_Silent_p.F293F|SLC13A2_ENST00000314669.5_Silent_p.F336F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	336			P -> S (in dbSNP:rs45546232).			integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.F336F(1)|p.F385F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCCTATTCGTCATCCTGG	0.577000													7	144					0	0	0.029380	0	0
ZNF285	26974	broad.mit.edu	37	19	44896514	44896514	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:44896514G>A	ENST00000330997.4	-	3	196	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.L44L|ZNF285_ENST00000591679.1_Silent_p.L51L	NM_152354.3	NP_689567.3			zinc finger protein 285									p.L44L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCACTAACATGAGGTTCCTGA	0.428000													16	192					0	0	0.033300	0	0
CHD4	1108	broad.mit.edu	37	12	6686986	6686986	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:6686986C>G	ENST00000309577.6	-	36	5573	c.5410G>C	c.(5410-5412)Gag>Cag	p.E1804Q	CHD4_ENST00000544484.1_Missense_Mutation_p.E1801Q|CHD4_ENST00000357008.2_Missense_Mutation_p.E1776Q|CHD4_ENST00000544040.1_Missense_Mutation_p.E1769Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1776	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.E1804Q(1)|p.E1776Q(1)		central_nervous_system(2)	2						TTCTTGATCTCTAAGAAATTG	0.463000													11	163					0	0	0.105934	0	0
NFIX	4784	broad.mit.edu	37	19	13183886	13183886	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:13183886C>A	ENST00000358552.3	+	2	582	c.582C>A	c.(580-582)aaC>aaA	p.N194K	NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000360105.4_Missense_Mutation_p.N198K|NFIX_ENST00000587260.1_Missense_Mutation_p.N194K|NFIX_ENST00000397661.2_Missense_Mutation_p.N195K|NFIX_ENST00000592199.1_Missense_Mutation_p.N195K|NFIX_ENST00000587760.1_Missense_Mutation_p.N187K|NFIX_ENST00000585575.1_Missense_Mutation_p.N187K|NFIX_ENST00000588228.1_Missense_Mutation_p.N148K			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	195					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.N195K(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ATAGTTCAAACCAGCAAGGAG	0.557000													5	103					0.0215528	0.0221288	0.021553	1	0
TPR	7175	broad.mit.edu	37	1	186319407	186319407	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:186319407G>C	ENST00000367478.4	-	21	3020	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.L908L(1)|p.L909L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCATATTACTGAGGTGCTGTT	0.318000			T	NTRK1	papillary thyroid								19	100					0	0	0.062417	0	0
PKD1L2	114780	broad.mit.edu	37	16	81249935	81249935	+	RNA	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:81249935G>A	ENST00000337114.4	-	0	377				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.D126D(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCGCAGGTGTCAGGGGCAG	0.657000													14	37					0	0	0.083992	0	0
SSH1	54434	broad.mit.edu	37	12	109182345	109182345	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:109182345C>T	ENST00000326495.5	-	15	2662	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K	SSH1_ENST00000360239.3_Missense_Mutation_p.E545K	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	857					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E857K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCTCTCCTCGGGGATGCTG	0.667000													4	36					0	0	0.009096	0	0
SRRT	51593	broad.mit.edu	37	7	100482607	100482607	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:100482607G>A	ENST00000388793.4	+	9	1325	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	SRRT_ENST00000347433.4_Missense_Mutation_p.E369K|SRRT_ENST00000457580.2_Missense_Mutation_p.E369K|SRRT_ENST00000432932.1_Missense_Mutation_p.E369K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	369	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.E369K(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCGTGTCAGAGTCTGAGTC	0.577000													6	274					0	0	0.021553	0	0
KSR2	283455	broad.mit.edu	37	12	117923470	117923470	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:117923470G>C	ENST00000425217.1	-	15	2213	c.2159C>G	c.(2158-2160)tCc>tGc	p.S720C	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.S749C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	749	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.S781C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCACAACGGAATAGAGCGT	0.448000													16	80					0	0	0.024245	0	0
MRPL27	51264	broad.mit.edu	37	17	48445522	48445522	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:48445522G>C	ENST00000511860.1	-	4	595	c.213C>G	c.(211-213)ctC>ctG	p.L71L	MRPL27_ENST00000442592.3_3'UTR|MRPL27_ENST00000507088.1_Silent_p.L71L|MRPL27_ENST00000225969.4_Silent_p.L126L|MRPL27_ENST00000503633.1_3'UTR			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	126					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	p.L126L(1)		endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AAGTCTTGTAGAGCACAGCAC	0.547000													22	57					0	0	0.069288	0	0
VTA1	51534	broad.mit.edu	37	6	142487389	142487389	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:142487389G>C	ENST00000367630.4	+	2	195	c.137G>C	c.(136-138)gGa>gCa	p.G46A	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	46	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	p.G46A(1)		endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATGCAGACTGGAATGAAGATC	0.294000													3	100					0	0	0.004672	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46926617	46926617	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:46926617G>A	ENST00000258947.3	+	5	522	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CALCOCO2_ENST00000448105.2_Missense_Mutation_p.E165K|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.E69K|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.E162K|CALCOCO2_ENST00000416445.2_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	141					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	p.E141K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTTGTAGGGAGAGGTGGAAGA	0.463000													34	107					0	0	0.059317	0	0
TRIM56	81844	broad.mit.edu	37	7	100731650	100731650	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:100731650G>C	ENST00000306085.6	+	3	1354	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	353					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.E353Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCACAGCTGGAGCTCCATCC	0.662000													4	8					0	0	0.009096	0	0
TFIP11	24144	broad.mit.edu	37	22	26894901	26894901	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:26894901C>A	ENST00000407690.1	-	10	1653	c.1370G>T	c.(1369-1371)aGc>aTc	p.S457I	TFIP11_ENST00000405938.1_Missense_Mutation_p.S457I|TFIP11_ENST00000407431.1_Missense_Mutation_p.S457I|TFIP11_ENST00000407148.1_Missense_Mutation_p.S457I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	457					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.S457I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCTAGGAGGCTTTTCCACTT	0.572000													10	253					7.48243e-07	8.04056e-07	0.058154	1	0
SAMD7	344658	broad.mit.edu	37	3	169644760	169644760	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:169644760C>T	ENST00000428432.2	+	6	1099	c.710C>T	c.(709-711)tCa>tTa	p.S237L	SAMD7_ENST00000335556.3_Missense_Mutation_p.S237L	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	237								p.S237L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AACCAGAAGTCAAGTGAAACG	0.498000													22	124					0	0	0.062417	0	0
TCHH	7062	broad.mit.edu	37	1	152085383	152085383	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152085383C>T	ENST00000368804.1	-	2	309	c.310G>A	c.(310-312)Gac>Aac	p.D104N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization	cytoskeleton	calcium ion binding	p.D104N(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTTCCGTCACACCGGGCT	0.522000													20	170					0	0	0.055883	0	0
CEP41	95681	broad.mit.edu	37	7	130067815	130067815	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:130067815G>C	ENST00000223208.5	-	2	348	c.78C>G	c.(76-78)atC>atG	p.I26M	CEP41_ENST00000541543.1_Missense_Mutation_p.I26M|CEP41_ENST00000343969.5_Missense_Mutation_p.I26M|CEP41_ENST00000489512.1_Missense_Mutation_p.I26M|CEP41_ENST00000495702.1_5'UTR	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol		p.I26M(1)									GTCTTGATTTGATATGCTGGT	0.313000													28	56					0	0	0.050027	0	0
FBF1	85302	broad.mit.edu	37	17	73922925	73922925	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:73922925T>C	ENST00000586717.1	-	9	740	c.467A>G	c.(466-468)tAt>tGt	p.Y156C	FBF1_ENST00000389570.4_Missense_Mutation_p.Y156C|FBF1_ENST00000319129.5_Missense_Mutation_p.Y156C			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	156								p.Y156C(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCCTTCATCATAGGAGAGAAG	0.512000													8	21					0	0	0.047766	0	0
OR4D5	219875	broad.mit.edu	37	11	123810416	123810416	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:123810416C>A	ENST00000307033.2	+	1	167	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F31L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCACTGTTTTCTCTGCTGTGT	0.463000													19	154					4.96729e-08	5.3754e-08	0.049695	1	0
SLC7A9	11136	broad.mit.edu	37	19	33359415	33359415	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:33359415C>T	ENST00000023064.4	-	2	217	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	SLC7A9_ENST00000590341.1_Missense_Mutation_p.R9Q|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R9Q	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	9					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	p.R9Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATCCTCTCTCCGCTTTCTCAG	0.557000													20	148					0	0	0.069288	0	0
BAZ2A	11176	broad.mit.edu	37	12	56995427	56995427	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:56995427G>C	ENST00000179765.5	-	21	4083	c.3884C>G	c.(3883-3885)tCa>tGa	p.S1295*	BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.S1297*|BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.S1327*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.S1325*			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1327	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.S1327*(2)|p.S1363*(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATCTGGGCTGAGATGTTAAA	0.602000													51	118					0	0	0.048971	0	0
AMDHD2	51005	broad.mit.edu	37	16	2570828	2570828	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:2570828G>A	ENST00000302956.4	+	2	236	c.142G>A	c.(142-144)Gag>Aag	p.E48K	AMDHD2_ENST00000413459.3_Missense_Mutation_p.E48K|AMDHD2_ENST00000293971.6_Missense_Mutation_p.E48K|ATP6C_ENST00000569317.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	48					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	p.E48K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GTTCTTTGAGGAGCGGCGCGT	0.711000													6	13					0	0	0.105934	0	0
DDX27	55661	broad.mit.edu	37	20	47841697	47841697	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:47841697C>T	ENST00000371764.4	+	6	663	c.654C>T	c.(652-654)ctC>ctT	p.L218L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	218						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L218L(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGAAAACCTCTCGTTCCAGG	0.413000													17	238					0	0	0.043863	0	0
MYO18A	399687	broad.mit.edu	37	17	27421806	27421806	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:27421806C>T	ENST00000527372.1	-	30	4752	c.4572G>A	c.(4570-4572)caG>caA	p.Q1524Q	MYO18A_ENST00000354329.4_Silent_p.Q1524Q|MYO18A_ENST00000531253.1_Silent_p.Q1524Q|MYO18A_ENST00000533112.1_Silent_p.Q1524Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1524					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.Q1524Q(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGAAATGTCCTGGAGCTCTG	0.537000													10	264					0	0	0.069234	0	0
MPO	4353	broad.mit.edu	37	17	56349051	56349051	+	Silent	SNP	G	G	A	rs141229223	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56349051G>A	ENST00000340482.3	-	10	2267	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	MPO_ENST00000225275.3_Silent_p.I665I			P05164	PERM_HUMAN	myeloperoxidase	665					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.I665I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACTGGGTACCGATGATGCAGG	0.647000													5	46					0	0	0.029380	0	0
KCNK2	3776	broad.mit.edu	37	1	215256745	215256745	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:215256745C>G	ENST00000444842.2	+	1	167	c.17C>G	c.(16-18)tCg>tGg	p.S6W	KCNK2_ENST00000391895.2_Intron|KCNK2_ENST00000391894.2_Intron	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	6							outward rectifier potassium channel activity	p.S6W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCCAGCGCCTCGCGGGAGAGA	0.547000													5	85					0	0	0.029380	0	0
RAI1	10743	broad.mit.edu	37	17	17700914	17700914	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700914C>T	ENST00000353383.1	+	3	5121	c.4652C>T	c.(4651-4653)tCa>tTa	p.S1551L	RAI1_ENST00000261641.6_Missense_Mutation_p.S1551L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1551						cytoplasm|nucleus	zinc ion binding	p.S1551L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCACCTCTTCACCCTGTAAG	0.607000													10	62					0	0	0.080935	0	0
ZNF423	23090	broad.mit.edu	37	16	49671947	49671947	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:49671947G>A	ENST00000561648.1	-	4	1169	c.1116C>T	c.(1114-1116)ccC>ccT	p.P372P	ZNF423_ENST00000562871.1_Silent_p.P312P|ZNF423_ENST00000562520.1_Silent_p.P312P|ZNF423_ENST00000567169.1_Silent_p.P255P|ZNF423_ENST00000563137.2_Silent_p.P312P|ZNF423_ENST00000535559.1_Silent_p.P255P|ZNF423_ENST00000262383.2_Silent_p.P372P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	372					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P372P(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTGGAGTCGGGTGTGGCGC	0.677000													5	21					0	0	0.014758	0	0
MRC1	4360	broad.mit.edu	37	10	18112246	18112246	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:18112246C>G	ENST00000239761.3	+	2	367	c.264C>G	c.(262-264)ctC>ctG	p.L88L		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	88	Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	p.L88L(1)		breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CTATCACTCTCTATGCCTGTG	0.398000													4	175					0	0	0.009096	0	0
CCDC173	129881	broad.mit.edu	37	2	170502533	170502533	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:170502533G>C	ENST00000447353.1	-	9	1582	c.1477C>G	c.(1477-1479)Ctt>Gtt	p.L493V		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.L487V(1)									GCTTTTACAAGAGGGTAAATA	0.433000													71	174					0	0	0.048971	0	0
DENND4A	10260	broad.mit.edu	37	15	65983838	65983838	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:65983838C>T	ENST00000443035.3	-	23	3306	c.3091G>A	c.(3091-3093)Gag>Aag	p.E1031K	DENND4A_ENST00000431932.2_Missense_Mutation_p.E988K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	988					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E990K(1)|p.E1031K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AAGAGCAGCTCAGGTGTGCTT	0.289000													16	8					0	0	0.024245	0	0
MTMR11	10903	broad.mit.edu	37	1	149906110	149906110	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:149906110G>A	ENST00000439741.2	-	7	907	c.657C>T	c.(655-657)gtC>gtT	p.V219V	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.V191V|MTMR11_ENST00000369140.3_Silent_p.V147V|MTMR11_ENST00000361405.6_Silent_p.V219V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	219	Myotubularin phosphatase.						phosphatase activity	p.V219V(1)|p.V147V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTCTCGTTGACCGTGCTGA	0.572000													12	106					0	0	0.080935	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463621	25463621	+	RNA	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:25463621G>A	ENST00000424208.1	+	0	2904				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CTTTTCCTGGGCCAGTGTCCA	0.582000													15	27					0	0	0.020292	0	0
CD248	57124	broad.mit.edu	37	11	66082774	66082774	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:66082774G>A	ENST00000311330.3	-	1	1741	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	575	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L575L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CCTGGGTTCTGAGGACAAGGG	0.607000													23	143					0	0	0.083992	0	0
UQCC1	55245	broad.mit.edu	37	20	33969816	33969816	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:33969816T>C	ENST00000397554.1	-	4	248	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	UQCC1_ENST00000397556.3_5'UTR|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.K80E|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000542501.1_Missense_Mutation_p.K80E|UQCC1_ENST00000374380.2_Intron|UQCC1_ENST00000359226.2_Missense_Mutation_p.K80E|UQCC1_ENST00000374385.5_Missense_Mutation_p.K80E|UQCC1_ENST00000349714.5_Missense_Mutation_p.K80E					ubiquinol-cytochrome c reductase complex assembly factor 1	80								p.K80E(1)									GGGGAATCTTTGGTAGTAGAA	0.358000													91	251					0	0	0.048971	0	0
FOXQ1	94234	broad.mit.edu	37	6	1313343	1313343	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:1313343C>T	ENST00000296839.2	+	1	669	c.404C>T	c.(403-405)tCg>tTg	p.S135L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	135					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	p.S135L(1)		lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ATCCGCGACTCGGCGGGCGGG	0.687000													8	9					0	0	0.038395	0	0
CEP350	9857	broad.mit.edu	37	1	179989968	179989968	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:179989968G>C	ENST00000367607.3	+	12	3477	c.3059G>C	c.(3058-3060)gGa>gCa	p.G1020A		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1020						centrosome|nucleus|spindle		p.G1020A(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTTTGTCCTGGAGAAAGAAAT	0.408000													8	77					0	0	0.038147	0	0
RNF213	57674	broad.mit.edu	37	17	78343399	78343399	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:78343399G>A	ENST00000582970.1	+	45	12396	c.12253G>A	c.(12253-12255)Gag>Aag	p.E4085K	RNF213_ENST00000508628.2_Missense_Mutation_p.E4134K|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.E2158K	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.E2158K(1)|p.E4134K(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCTCCGCCTGAGAAGGAAGT	0.517000													42	139					0	0	0.111260	0	0
RAI1	10743	broad.mit.edu	37	17	17700179	17700179	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700179C>G	ENST00000353383.1	+	3	4386	c.3917C>G	c.(3916-3918)tCt>tGt	p.S1306C	RAI1_ENST00000261641.6_Missense_Mutation_p.S1306C	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1306						cytoplasm|nucleus	zinc ion binding	p.S1306C(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGCTCGCCTCTCGGGCAGCC	0.652000													16	77					0	0	0.028581	0	0
CEP76	79959	broad.mit.edu	37	18	12702511	12702511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:12702511G>A	ENST00000262127.2	-	1	262	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	CEP76_ENST00000423709.2_Nonsense_Mutation_p.Q13*|PSMG2_ENST00000317615.6_5'UTR|CEP76_ENST00000586887.1_5'UTR|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	13					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	p.Q13*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGATGAGCTGCTTCAGCTCG	0.706000													7	23					0	0	0.029380	0	0
PHF2	5253	broad.mit.edu	37	9	96415473	96415473	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:96415473C>T	ENST00000359246.4	+	6	982	c.615C>T	c.(613-615)ttC>ttT	p.F205F	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	205	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.F205F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTCCAGCTTCGTGGAGCCAC	0.502000													6	29					0	0	0.021553	0	0
PDIA5	10954	broad.mit.edu	37	3	122811201	122811201	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:122811201G>A	ENST00000316218.7	+	3	264		c.e3-1			NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5						cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TTTTTTTACAGAGGTGGCAGC	0.502000													10	104					0	0	0.058154	0	0
KRT24	192666	broad.mit.edu	37	17	38857538	38857538	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:38857538C>G	ENST00000264651.2	-	3	765	c.709G>C	c.(709-711)Gag>Cag	p.E237Q		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	237	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.E237Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGACACAGCTCGTTCTCATAC	0.507000													6	60					0	0	0.021553	0	0
GPR63	81491	broad.mit.edu	37	6	97247160	97247160	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:97247160C>T	ENST00000229955.3	-	2	793	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	GPR63_ENST00000417980.1_Missense_Mutation_p.G150R	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	150						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.G150R(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AAGAATTTCCCAAAAATCCAT	0.418000													22	56					0	0	0.069288	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413280	121413280	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:121413280C>T	ENST00000393667.3	-	13	6200	c.6090G>A	c.(6088-6090)caG>caA	p.Q2030Q	GOLGB1_ENST00000340645.5_Silent_p.Q2025Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2025					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.Q2025Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGTCCTTCTGTAGCTGCT	0.358000													31	363					0	0	0.041601	0	0
APOB	338	broad.mit.edu	37	2	21228021	21228021	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:21228021C>T	ENST00000233242.1	-	26	11846	c.11719G>A	c.(11719-11721)Gat>Aat	p.D3907N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3907					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D3907N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAACATAATCTGCTTTGTTT	0.428000													44	129					0	0	0.111260	0	0
LIFR	3977	broad.mit.edu	37	5	38484884	38484884	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:38484884G>A	ENST00000263409.4	-	18	2746	c.2584C>T	c.(2584-2586)Cga>Tga	p.R862*	LIFR_ENST00000453190.2_Nonsense_Mutation_p.R862*	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	862					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.R862*(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TACCATTCTCGTTTCCGATAG	0.363000			T	PLAG1	salivary adenoma								4	29					0	0	0.009096	0	0
LILRB1	10859	broad.mit.edu	37	19	55147018	55147018	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:55147018G>A	ENST00000396331.1	+	14	1965	c.1608G>A	c.(1606-1608)gtG>gtA	p.V536V	LILRB1_ENST00000324602.7_Silent_p.V537V|LILRB1_ENST00000434867.2_Silent_p.V536V|LILRB1_ENST00000396321.2_Silent_p.V536V|LILRB1_ENST00000418536.2_Silent_p.V520V|LILRB1_ENST00000396317.1_Silent_p.V520V|LILRB1_ENST00000396332.4_Silent_p.V536V|LILRB1_ENST00000448689.1_Silent_p.*511*|LILRB1_ENST00000396327.3_Silent_p.V537V|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.V586V|LILRB1_ENST00000396315.1_Silent_p.V537V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	536					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.V536V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ATGCTGCCGTGAAGCACACAC	0.627000										HNSCC(37;0.09)			5	137					0	0	0.038147	0	0
RAI1	10743	broad.mit.edu	37	17	17700911	17700911	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700911C>T	ENST00000353383.1	+	3	5118	c.4649C>T	c.(4648-4650)tCt>tTt	p.S1550F	RAI1_ENST00000261641.6_Missense_Mutation_p.S1550F	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1550						cytoplasm|nucleus	zinc ion binding	p.S1550F(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AACACCACCTCTTCACCCTGT	0.612000													10	64					0	0	0.080935	0	0
SERPIND1	3053	broad.mit.edu	37	22	21140347	21140347	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:21140347G>T	ENST00000215727.5	+	4	1502	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*	SERPIND1_ENST00000406799.1_Nonsense_Mutation_p.E407*|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	407					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	p.E407*(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CAATCTAGTGGAGTCCCTGAA	0.483000													15	198					6.31663e-08	6.81959e-08	0.024245	1	0
NRAP	4892	broad.mit.edu	37	10	115355468	115355468	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:115355468C>T	ENST00000369358.4	-	38	4718	c.4474G>A	c.(4474-4476)Gat>Aat	p.D1492N	NRAP_ENST00000369360.3_Missense_Mutation_p.D1457N|NRAP_ENST00000360478.3_Missense_Mutation_p.D1449N|NRAP_ENST00000359988.3_Missense_Mutation_p.D1484N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1484						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.D1484N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GATTCTGCATCTCCAGATCTA	0.512000													10	144					0	0	0.069234	0	0
AIFM2	84883	broad.mit.edu	37	10	71880898	71880898	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:71880898C>A	ENST00000307864.1	-	4	577	c.364G>T	c.(364-366)Gtt>Ttt	p.V122F	AIFM2_ENST00000373248.1_Missense_Mutation_p.V122F	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	122					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding	p.V122F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TGGCTGGAAACCTCATTAAAC	0.542000													4	63					0.0215528	0.0221288	0.021553	1	0
MYH3	4621	broad.mit.edu	37	17	10535904	10535904	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:10535904G>C	ENST00000583535.1	-	34	4932	c.4845C>G	c.(4843-4845)ctC>ctG	p.L1615L	MYH3_ENST00000226209.7_Silent_p.L1615L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1615					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.L1615L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTTCTTCTTGAGCCGGATGG	0.587000													6	325					0	0	0.038147	0	0
MYH15	22989	broad.mit.edu	37	3	108129603	108129603	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:108129603G>C	ENST00000273353.3	-	32	4438	c.4382C>G	c.(4381-4383)tCt>tGt	p.S1461C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1461						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1461C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCCTTGCCAGACTGCAGCTG	0.632000													5	67					0	0	0.021553	0	0
FGA	2243	broad.mit.edu	37	4	155507881	155507881	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:155507881G>C	ENST00000302053.3	-	5	778	c.700C>G	c.(700-702)Ccc>Gcc	p.P234A	FGA_ENST00000403106.3_Missense_Mutation_p.P234A	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	234					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.P234A(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAATTTCCGGGAACCAAGTCT	0.458000													3	137					0	0	0.004672	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536942	146536942	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:146536942C>G	ENST00000361727.3	+	3	864	c.348C>G	c.(346-348)ctC>ctG	p.L116L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	116	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.L116L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCGGATGCTCTACAGCGACA	0.468000										HNSCC(39;0.1)			5	38					0	0	0.014758	0	0
SH2B1	25970	broad.mit.edu	37	16	28878108	28878108	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:28878108G>A	ENST00000337120.5	+	1	3984	c.693G>A	c.(691-693)ctG>ctA	p.L231L	SH2B1_ENST00000322610.8_Silent_p.L231L|SH2B1_ENST00000359285.5_Silent_p.L231L|SH2B1_ENST00000395532.4_Silent_p.L231L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000538342.1_Intron	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	231	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).|Required for nuclear localization (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.L231L(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TTGAGAGGCTGAGACTCAGTC	0.622000													11	29					0	0	0.069234	0	0
NAA16	79612	broad.mit.edu	37	13	41910844	41910844	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:41910844C>T	ENST00000379406.3	+	9	1290	c.966C>T	c.(964-966)tgC>tgT	p.C322C	NAA16_ENST00000403412.3_Silent_p.C322C|NAA16_ENST00000379367.3_Silent_p.C322C	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	322					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.C322C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GTAAAGGCTGCCCACCCTTGT	0.318000													7	100					0	0	0.047766	0	0
HEATR3	55027	broad.mit.edu	37	16	50100305	50100305	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:50100305G>A	ENST00000299192.7	+	2	357	c.166G>A	c.(166-168)Gag>Aag	p.E56K	HEATR3_ENST00000285767.4_Intron	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	56							binding	p.E56K(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CGAGGTCCGCGAGTGCGCCTG	0.756000													3	5					0	0	0.009096	0	0
OR2B6	26212	broad.mit.edu	37	6	27925387	27925387	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:27925387T>A	ENST00000244623.1	+	1	369	c.369T>A	c.(367-369)ttT>ttA	p.F123L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F123L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATAGGTTTGTAGCTATTT	0.473000													40	155					0	0	0.086207	0	0
SSPO	23145	broad.mit.edu	37	7	149522395	149522395	+	RNA	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:149522395C>T	ENST00000378016.2	+	0	14025							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.S63L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACACTGTATTCACCCTGGACT	0.637000													21	68					0	0	0.049695	0	0
MKI67	4288	broad.mit.edu	37	10	129905874	129905874	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:129905874G>A	ENST00000368654.3	-	13	4605	c.4230C>T	c.(4228-4230)ctC>ctT	p.L1410L	MKI67_ENST00000368653.3_Silent_p.L1050L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1410	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.L1410L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATGTCTGTGTGAGCTTCTTCA	0.498000													43	317					0	0	0.045515	0	0
RAI1	10743	broad.mit.edu	37	17	17699982	17699982	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17699982C>G	ENST00000353383.1	+	3	4189	c.3720C>G	c.(3718-3720)gtC>gtG	p.V1240V	RAI1_ENST00000261641.6_Silent_p.V1240V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1240						cytoplasm|nucleus	zinc ion binding	p.V1240V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGAACCTGGTCTTGCGGAGCC	0.632000													5	20					0	0	0.014758	0	0
WDHD1	11169	broad.mit.edu	37	14	55448271	55448271	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:55448271G>A	ENST00000360586.3	-	16	2115	c.2050C>T	c.(2050-2052)Ccc>Tcc	p.P684S	WDHD1_ENST00000359167.4_Missense_Mutation_p.P202S|WDHD1_ENST00000420358.2_Missense_Mutation_p.P561S|WDHD1_ENST00000421192.1_Missense_Mutation_p.P561S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	684						cytoplasm|nucleoplasm	DNA binding	p.P684S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						AGTTGCTGGGGATTTTCATGG	0.368000													11	114					0	0	0.093190	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295645	160295645	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:160295645C>T	ENST00000392783.2	-	7	1270	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	BAZ2B_ENST00000355831.2_Missense_Mutation_p.G259S|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G257S|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G257S	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	259	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G259S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTACTAATGCCTTCACTTGAG	0.388000													35	235					0	0	0.054565	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113603	66113603	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:66113603C>T	ENST00000311181.4	-	2	1311	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	389					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.E389K(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TGCTGATTTTCAGCCTCCTTT	0.502000													77	140					0	0	0.048971	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													4	89					0	0	0.014758	0	0
FAM45A	404636	broad.mit.edu	37	10	120879939	120879939	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:120879939A>G	ENST00000361432.2	+	5	594	c.568A>G	c.(568-570)Ata>Gta	p.I190V	FAM45A_ENST00000535029.1_Intron|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000544016.1_Missense_Mutation_p.I39V	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	190								p.I190V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TCACCCCAAGATAGAAGCGGT	0.398000													5	77					0	0	0.021553	0	0
UPF2	26019	broad.mit.edu	37	10	12071355	12071355	+	Silent	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:12071355T>C	ENST00000356352.2	-	2	1007	c.534A>G	c.(532-534)ctA>ctG	p.L178L	UPF2_ENST00000397053.2_Silent_p.L178L|UPF2_ENST00000357604.5_Silent_p.L178L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	178	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	p.L178L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TAATAGTTTTTAGTTTCTTGA	0.408000													62	157					0	0	0.048971	0	0
ZNF728	388523	broad.mit.edu	37	19	23159739	23159739	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:23159739T>A	ENST00000594710.1	-	4	545	c.400A>T	c.(400-402)Aac>Tac	p.N134Y		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		AAACTCTGGTTAAGCTTATTA	0.313000													12	64					0	0	0.093190	0	0
ANO8	57719	broad.mit.edu	37	19	17440962	17440962	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:17440962C>T	ENST00000159087.4	-	10	1403	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	415	Leu-rich.					chloride channel complex	chloride channel activity	p.K415K(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGGCTAGCTTCTTGTAGCCCT	0.627000													5	54					0	0	0.014758	0	0
ETAA1	54465	broad.mit.edu	37	2	67637048	67637048	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:67637048G>C	ENST00000272342.5	+	6	2789	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	887	Poly-Glu.					cytoplasm|nucleus		p.E887Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTTAGAGGAAGAAGAGAAAAA	0.333000													13	199					0	0	0.105934	0	0
FLG	2312	broad.mit.edu	37	1	152285757	152285757	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:152285757C>T	ENST00000368799.1	-	3	1640	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	535	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S535S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTATTTACCGATTGCTCGT	0.582000									Ichthyosis				89	479					0	0	0.048971	0	0
VWA1	64856	broad.mit.edu	37	1	1374667	1374667	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:1374667G>A	ENST00000476993.1	+	3	916	c.838G>A	c.(838-840)Gac>Aac	p.D280N	VWA1_ENST00000404702.3_Missense_Mutation_p.D68N|VWA1_ENST00000338660.5_3'UTR	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	280	Fibronectin type-III 1.					basement membrane		p.D280N(2)		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)		CACGGACTACGACGTGGCGCT	0.741000													4	8					0	0	0.009096	0	0
TMEM53	79639	broad.mit.edu	37	1	45120468	45120468	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:45120468G>C	ENST00000372237.3	-	3	760	c.597C>G	c.(595-597)ttC>ttG	p.F199L	TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.F169L|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	199						integral to membrane		p.F199L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCTGTCATAGAAGTGGGTGT	0.617000													10	41					0	0	0.069234	0	0
IL33	90865	broad.mit.edu	37	9	6252898	6252898	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:6252898C>A	ENST00000381434.3	+	4	389	c.376C>A	c.(376-378)Cta>Ata	p.L126I	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	126					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	p.L126I(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCTTGCTTCTCTAAGCACATA	0.318000													38	86					1.36161e-19	1.48745e-19	0.069456	1	0
C11orf73	51501	broad.mit.edu	37	11	86048472	86048472	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:86048472C>G	ENST00000533986.1	+	3	558	c.320C>G	c.(319-321)tCt>tGt	p.S107C	C11orf73_ENST00000278483.3_Missense_Mutation_p.S107C|C11orf73_ENST00000530208.1_3'UTR			Q53FT3	CK073_HUMAN	chromosome 11 open reading frame 73	107						cytoplasm		p.S107C(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				CGAACTCCATCTGTTGCTCAG	0.403000													51	272					0	0	0.048971	0	0
OR10G8	219869	broad.mit.edu	37	11	123900608	123900608	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:123900608C>T	ENST00000431524.1	+	1	312	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F93F(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTATCTCCTTCCACAGCTGCA	0.522000													9	134					0	0	0.069234	0	0
ZEB2	9839	broad.mit.edu	37	2	145157492	145157492	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:145157492C>T	ENST00000558170.2	-	8	2446	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E	ZEB2_ENST00000539609.3_Missense_Mutation_p.G397E|ZEB2_ENST00000409487.3_Missense_Mutation_p.G421E|ZEB2_ENST00000303660.4_Missense_Mutation_p.G421E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	421						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.G421E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTGGTGGCTCCAAGCCCACC	0.453000													17	99					0	0	0.028581	0	0
LATS1	9113	broad.mit.edu	37	6	150005361	150005361	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:150005361G>C	ENST00000543571.1	-	4	1411	c.864C>G	c.(862-864)atC>atG	p.I288M	LATS1_ENST00000253339.5_Missense_Mutation_p.I288M|LATS1_ENST00000392273.3_Missense_Mutation_p.I288M|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	288					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.I288M(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGACAGGAGAGATTCGGGAGA	0.517000													17	159					0	0	0.028581	0	0
RAI1	10743	broad.mit.edu	37	17	17701368	17701368	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17701368C>T	ENST00000353383.1	+	3	5575	c.5106C>T	c.(5104-5106)ctC>ctT	p.L1702L	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1702						cytoplasm|nucleus	zinc ion binding	p.L1702L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGGGGACCTCTGTGGGCCCT	0.592000													7	48					0	0	0.038147	0	0
TEFM	79736	broad.mit.edu	37	17	29227537	29227537	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:29227537A>G	ENST00000580840.1	-	3	575	c.539T>C	c.(538-540)aTt>aCt	p.I180T	TEFM_ENST00000581216.1_Missense_Mutation_p.I180T			Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	180					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding	p.I180T(1)									AGCCCAGGCAATTCTTCGAGT	0.343000													21	171					0	0	0.083992	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33391253	33391253	+	Splice_Site	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:33391253G>C	ENST00000418600.2	+	2	168		c.e2-1		SYNGAP1_ENST00000496374.1_Splice_Site|SYNGAP1_ENST00000293748.5_Splice_Site	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.?(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CTGTCCTCCAGATGTACGGGG	0.522000													63	185					0	0	0.048971	0	0
TEX30	93081	broad.mit.edu	37	13	103419691	103419691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:103419691C>A	ENST00000376019.1	-	3	1149	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*|TEX30_ENST00000376022.1_Intron|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376032.4_Nonsense_Mutation_p.E146*|TEX30_ENST00000376029.3_Intron			Q5JUR7	CM027_HUMAN	testis expressed 30	146								p.E105*(2)|p.E146*(2)		lung(1)|urinary_tract(1)	2						AAGAGGTCTTCATCTCTGAGT	0.408000													6	155					0.00307968	0.00319759	0.038147	1	0
COPS4	51138	broad.mit.edu	37	4	83996452	83996452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:83996452C>T	ENST00000264389.2	+	10	1225	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	COPS4_ENST00000503682.1_Nonsense_Mutation_p.R396*|COPS4_ENST00000511653.1_Missense_Mutation_p.T413M|COPS4_ENST00000509093.1_Silent_p.H335H	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	364					cullin deneddylation	cytoplasm|signalosome	protein binding	p.R364*(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				CCCCTTAGCACGAGAAGCCCT	0.363000													5	54					0	0	0.014758	0	0
SLC39A3	29985	broad.mit.edu	37	19	2737188	2737188	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:2737188G>C	ENST00000455372.2	-	2	273	c.68C>G	c.(67-69)tCc>tGc	p.S23C	SLC39A3_ENST00000545664.1_Missense_Mutation_p.S23C|SLC39A3_ENST00000269740.4_Missense_Mutation_p.S23C|AC006538.4_ENST00000586572.1_Missense_Mutation_p.S23C	NM_213568.1	NP_998733.1	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	23						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	p.S23F(1)|p.S23C(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGAGCAGGGAGCCGAGCAG	0.547000													3	27					0	0	0.004672	0	0
C8orf82	414919	broad.mit.edu	37	8	145753430	145753430	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:145753430C>G	ENST00000524821.1	-	2	398	c.183G>C	c.(181-183)aaG>aaC	p.K61N	C8orf82_ENST00000313465.5_Missense_Mutation_p.K61N			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	61								p.K61N(1)		endometrium(1)|urinary_tract(1)	2						TGATGAAATTCTTCATTTTGG	0.582000													12	61					0	0	0.020292	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	80					0	0	0.014758	0	0
TSC1	7248	broad.mit.edu	37	9	135786887	135786887	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:135786887G>A	ENST00000298552.3	-	10	1203	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.Q328*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.Q277*|TSC1_ENST00000403810.1_Nonsense_Mutation_p.Q328*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	328					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.Q328*(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCAGAGTCTGAGGTAGCTGC	0.502000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				36	72					0	0	0.069456	0	0
ABCC9	10060	broad.mit.edu	37	12	22015985	22015985	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:22015985C>T	ENST00000261200.4	-	18	2240	c.2241G>A	c.(2239-2241)agG>agA	p.R747R	ABCC9_ENST00000261201.4_Silent_p.R747R|ABCC9_ENST00000345162.2_Silent_p.R711R|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	747	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R747R(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTACCTGTTCCTACTGAAAA	0.323000													5	74					0	0	0.014758	0	0
ZNF330	27309	broad.mit.edu	37	4	142147922	142147922	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:142147922G>A	ENST00000262990.4	+	5	441	c.213G>A	c.(211-213)ggG>ggA	p.G71G	ZNF330_ENST00000421169.2_Splice_Site_p.G11G	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	71						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.G71G(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CTTCATTAGGGAAAACAAAGT	0.393000													24	109					0	0	0.091800	0	0
CDAN1	146059	broad.mit.edu	37	15	43025297	43025297	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:43025297G>A	ENST00000356231.3	-	9	1478	c.1455C>T	c.(1453-1455)atC>atT	p.I485I		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	485						integral to membrane	protein binding	p.I485I(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GCACCCACCTGATTCTGCTGC	0.552000													8	74					0	0	0.038147	0	0
PALB2	79728	broad.mit.edu	37	16	23640969	23640969	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:23640969C>T	ENST00000261584.4	-	5	2658	c.2506G>A	c.(2506-2508)Gtc>Atc	p.V836I		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	836					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	p.V836I(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		ACCTGTTCGACGGAATGTTTA	0.443000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					14	74					0	0	0.105934	0	0
ADCY9	115	broad.mit.edu	37	16	4016190	4016190	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:4016190C>G	ENST00000294016.3	-	11	4186	c.3648G>C	c.(3646-3648)ttG>ttC	p.L1216F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1216					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.L1216F(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCATCTTGCTCAAGACGCGGT	0.572000													10	140					0	0	0.080935	0	0
SYTL2	54843	broad.mit.edu	37	11	85447612	85447612	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:85447612G>A	ENST00000316356.4	-	6	1082	c.518C>T	c.(517-519)tCa>tTa	p.S173L	SYTL2_ENST00000389960.4_Missense_Mutation_p.S172L|SYTL2_ENST00000524452.1_Missense_Mutation_p.S172L|SYTL2_ENST00000528231.1_Missense_Mutation_p.S172L|SYTL2_ENST00000527523.1_Missense_Mutation_p.S124L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	172					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.S173L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTGTTGTGATGAGTGACCTTC	0.313000													4	70					0	0	0.014758	0	0
ELF4	2000	broad.mit.edu	37	X	129206253	129206253	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:129206253C>T	ENST00000308167.5	-	5	859	c.480G>A	c.(478-480)gaG>gaA	p.E160E	ELF4_ENST00000335997.7_Silent_p.E160E	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	160	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E160E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGAGGCCTTCTCCTCCAGAG	0.567000			T	ERG	AML								10	88					0	0	0.093190	0	0
LATS1	9113	broad.mit.edu	37	6	150005065	150005065	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:150005065G>A	ENST00000543571.1	-	4	1707	c.1160C>T	c.(1159-1161)tCt>tTt	p.S387F	LATS1_ENST00000253339.5_Missense_Mutation_p.S387F|LATS1_ENST00000392273.3_Missense_Mutation_p.S387F|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	387					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.S387F(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTGTAAAGCAGAAGGGCTTTG	0.453000													19	129					0	0	0.043863	0	0
TBC1D3F	84218	broad.mit.edu	37	17	36288269	36288269	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:36288269G>A	ENST00000539424.1	+	2	1780	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TBC1D3F_ENST00000505415.1_Missense_Mutation_p.E119K|TBC1D3F_ENST00000327454.6_Missense_Mutation_p.E119K|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.E119K			A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	119						intracellular	Rab GTPase activator activity	p.E119K(1)		liver(1)|pancreas(1)	2						GAACACTGAGGAAATGAAGTT	0.557000													19	678					0	0	0.043863	0	0
KIFAP3	22920	broad.mit.edu	37	1	169993598	169993598	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:169993598C>G	ENST00000367765.1	-	9	2362	c.861G>C	c.(859-861)ttG>ttC	p.L287F	KIFAP3_ENST00000540905.1_Missense_Mutation_p.L29F|KIFAP3_ENST00000361580.2_Missense_Mutation_p.L327F|KIFAP3_ENST00000538366.1_Missense_Mutation_p.L249F|KIFAP3_ENST00000367767.1_Missense_Mutation_p.L283F|RP11-332H17.1_ENST00000440321.1_RNA	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	327					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.L327F(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGTTTCTTCAAGAATGACA	0.323000													4	103					0	0	0.014758	0	0
USP13	8975	broad.mit.edu	37	3	179448467	179448467	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:179448467C>G	ENST00000263966.3	+	10	1695	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L	USP13_ENST00000496897.1_Silent_p.L343L|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	408					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L408L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AATCTGAACTCATTGAACAGG	0.468000													8	95					0	0	0.069234	0	0
FGD6	55785	broad.mit.edu	37	12	95604045	95604045	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:95604045C>T	ENST00000343958.4	-	2	1238	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	FGD6_ENST00000546711.1_Missense_Mutation_p.E339K|FGD6_ENST00000549499.1_Missense_Mutation_p.E339K	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	339					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.E339K(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCCGGTTCTTCAGTGCTTTCA	0.408000													19	235					0	0	0.062417	0	0
CEP350	9857	broad.mit.edu	37	1	179989859	179989859	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:179989859G>A	ENST00000367607.3	+	12	3368	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	984						centrosome|nucleus|spindle		p.E984K(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTCAGTCAGTGAAGGGCCTCT	0.428000													11	182					0	0	0.080935	0	0
FOXP1	27086	broad.mit.edu	37	3	71050197	71050197	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:71050197C>G	ENST00000318789.4	-	13	1513	c.988G>C	c.(988-990)Gag>Cag	p.E330Q	FOXP1_ENST00000493089.1_Missense_Mutation_p.E330Q|FOXP1_ENST00000475937.1_Missense_Mutation_p.E330Q|FOXP1_ENST00000484350.1_Missense_Mutation_p.E254Q|FOXP1_ENST00000491238.1_Missense_Mutation_p.E332Q|FOXP1_ENST00000498215.1_Missense_Mutation_p.E330Q|FOXP1_ENST00000468577.1_Missense_Mutation_p.E330Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	330					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.E330Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGCGCATGCTCACTGTTGAGA	0.353000			T	PAX5	ALL								9	123					0	0	0.069234	0	0
ZNF131	7690	broad.mit.edu	37	5	43161885	43161885	+	Silent	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:43161885A>G	ENST00000509634.1	+	5	1260	c.804A>G	c.(802-804)gcA>gcG	p.A268A	ZNF131_ENST00000509156.1_Silent_p.A302A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Silent_p.A268A|ZNF131_ENST00000306938.4_Silent_p.A268A|ZNF131_ENST00000399534.1_Silent_p.A302A			P52739	ZN131_HUMAN	zinc finger protein 131	302						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A268A(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAGAGAGCGCATGGAAACAGC	0.373000													21	65					0	0	0.055883	0	0
CDH15	1013	broad.mit.edu	37	16	89254631	89254631	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:89254631G>A	ENST00000289746.2	+	7	981	c.916G>A	c.(916-918)Gat>Aat	p.D306N		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	306	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.D306N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		AGGCGACCCCGATGGGCAGTT	0.647000													3	21					0	0	0.004672	0	0
DNAH11	8701	broad.mit.edu	37	7	21775305	21775305	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:21775305G>A	ENST00000328843.6	+	47	7540	c.7509G>A	c.(7507-7509)atG>atA	p.M2503I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M2496I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2503	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.M2503I(1)		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						GATATTTCATGGAGTTGTTGC	0.443000									Kartagener syndrome				5	36					0	0	0.014758	0	0
NUSAP1	51203	broad.mit.edu	37	15	41625174	41625174	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41625174G>C	ENST00000260359.6	+	1	283	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	NUSAP1_ENST00000414849.2_Missense_Mutation_p.E7Q|NUSAP1_ENST00000560747.1_Missense_Mutation_p.E7Q|NUSAP1_ENST00000450592.2_Missense_Mutation_p.E7Q|NUSAP1_ENST00000560177.1_Missense_Mutation_p.E7Q|NUSAP1_ENST00000450318.1_Missense_Mutation_p.E7Q|NUSAP1_ENST00000559596.1_Missense_Mutation_p.E7Q|NUSAP1_ENST00000558123.1_3'UTR	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	7					cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	p.E7K(1)|p.E7Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CCCCTCTCTAGAGGAGCTGGA	0.582000													6	21					0	0	0.029380	0	0
KIAA0232	9778	broad.mit.edu	37	4	6873346	6873346	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:6873346G>A	ENST00000307659.5	+	8	4302	c.3847G>A	c.(3847-3849)Gaa>Aaa	p.E1283K	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E1283K	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1283							ATP binding	p.E1283K(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TAGAAGTCAAGAAAAACAGAC	0.353000													15	107					0	0	0.024245	0	0
PDE4A	5141	broad.mit.edu	37	19	10568641	10568641	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:10568641C>A	ENST00000380702.2	+	9	898	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	PDE4A_ENST00000440014.2_Missense_Mutation_p.P261T|PDE4A_ENST00000352831.6_Missense_Mutation_p.P322T|PDE4A_ENST00000592685.1_Missense_Mutation_p.P300T|PDE4A_ENST00000344979.3_Missense_Mutation_p.P83T|PDE4A_ENST00000293683.5_Missense_Mutation_p.P296T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	322					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	p.P296T(1)|p.P83T(1)|p.P261T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTCCCAGCCGCCCCCGCCCCC	0.522000													6	44					0.0581538	0.0594432	0.058154	1	0
NF1	4763	broad.mit.edu	37	17	29576080	29576080	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:29576080C>G	ENST00000358273.4	+	30	4436	c.4053C>G	c.(4051-4053)atC>atG	p.I1351M	NF1_ENST00000356175.3_Missense_Mutation_p.I1351M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1351	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.I1351M(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCCATCATCAGTTCCTCCT	0.388000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			24	260					0	0	0.076483	0	0
TRA2B	6434	broad.mit.edu	37	3	185636158	185636158	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:185636158G>A	ENST00000453386.2	-	8	1126	c.851C>T	c.(850-852)tCa>tTa	p.S284L	TRA2B_ENST00000382191.4_Missense_Mutation_p.S184L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	284	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	p.S284L(1)		breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTTACGAGGTGAGTATGATCG	0.378000													8	167					0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179477688	179477688	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:179477688A>G	ENST00000589042.1	-	265	49984	c.49760T>C	c.(49759-49761)gTc>gCc	p.V16587A	TTN_ENST00000342175.6_Missense_Mutation_p.V7714A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V14946A|TTN_ENST00000342992.6_Missense_Mutation_p.V14019A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7647A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7522A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14946	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V14019A(2)|p.V7522A(1)|p.V7714A(1)|p.V7647A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTCAATGACATAAGACTC	0.478000													8	62					0	0	0.038147	0	0
CSMD3	114788	broad.mit.edu	37	8	114448989	114448989	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:114448989A>T	ENST00000297405.5	-	1	339	c.95T>A	c.(94-96)tTc>tAc	p.F32Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.F32Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.F32Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	32						integral to membrane|plasma membrane		p.F32Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCAGGATGAAGTCTAGGCG	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	178					0	0	0.021553	0	0
CKAP4	10970	broad.mit.edu	37	12	106632982	106632982	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:106632982G>A	ENST00000378026.4	-	2	1765	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	543						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction		p.V543V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACTTGGCTGACTGAGGCTT	0.527000													29	128					0	0	0.108266	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585469	43585469	+	RNA	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:43585469C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGGCTGGGTTCTCCTCCTATG	0.512000													5	62					0	0	0.029380	0	0
TDRP	157695	broad.mit.edu	37	8	442608	442608	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:442608C>T	ENST00000324079.6	-	3	589	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TDRP_ENST00000427263.2_Missense_Mutation_p.E117K|TDRP_ENST00000523656.1_Missense_Mutation_p.E117K					testis development related protein									p.E117K(1)									GATATGTCTTCAAGAGCAAGT	0.493000													7	63					0	0	0.029380	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889947	23889947	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:23889947G>C	ENST00000532292.1	-	1	1228	c.1134C>G	c.(1132-1134)ctC>ctG	p.L378L		NM_019066.4	NP_061939.3			MAGE-like 2									p.L378L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGCTTTCAGAGAGACCCAGGG	0.647000													4	20					0	0	0.009096	0	0
PURG	29942	broad.mit.edu	37	8	30889612	30889612	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:30889612C>T	ENST00000475541.1	-	1	1619	c.687G>A	c.(685-687)atG>atA	p.M229I	PURG_ENST00000339382.2_Missense_Mutation_p.M229I	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	229						nucleus	DNA binding	p.M229I(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GAAACTCAATCATTCCTTGTG	0.488000													15	135					0	0	0.024245	0	0
KLHDC2	23588	broad.mit.edu	37	14	50246473	50246473	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:50246473G>C	ENST00000298307.5	+	8	1583	c.722G>C	c.(721-723)aGa>aCa	p.R241T	KLHDC2_ENST00000557247.1_Missense_Mutation_p.R241T|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R241T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	241						nucleus	protein binding	p.R241T(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TAGGATGCTAGAATGAATGAT	0.318000													10	89					0	0	0.058154	0	0
RBM44	375316	broad.mit.edu	37	2	238726510	238726510	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:238726510G>C	ENST00000316997.4	+	3	1083	c.951G>C	c.(949-951)ttG>ttC	p.L317F	RBM44_ENST00000409864.1_Missense_Mutation_p.L317F|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	316							nucleotide binding|RNA binding	p.L317F(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GTGGTTCCTTGAGCCCTCAAA	0.318000													6	48					0	0	0.021553	0	0
AGAP3	116988	broad.mit.edu	37	7	150840866	150840866	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150840866C>G	ENST00000397238.2	+	18	2572	c.2572C>G	c.(2572-2574)Cca>Gca	p.P858A	AGAP3_ENST00000463381.1_Missense_Mutation_p.P527A	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	822					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.P858A(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGGCCTGACTCCACTGGCATA	0.617000													6	86					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179397871	179397871	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:179397871C>G	ENST00000589042.1	-	358	103695	c.103471G>C	c.(103471-103473)Gaa>Caa	p.E34491Q	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25618Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32850Q|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31923Q|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25551Q|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25426Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32850							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25551Q(1)|p.E25618Q(1)|p.E25426Q(1)|p.E31921Q(1)|p.E31923Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACACTTTCAGTTCCAGAA	0.433000													15	206					0	0	0.020292	0	0
ABCC11	85320	broad.mit.edu	37	16	48264436	48264436	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:48264436G>C	ENST00000394747.1	-	2	497	c.148C>G	c.(148-150)Cct>Gct	p.P50A	ABCC11_ENST00000394748.1_Missense_Mutation_p.P50A|ABCC11_ENST00000356608.2_Missense_Mutation_p.P50A|ABCC11_ENST00000353782.5_Missense_Mutation_p.P50A|ABCC11_ENST00000537808.1_Missense_Mutation_p.P50A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	50						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.P50A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGAGCCTCAGGATTTCTCTCT	0.498000													4	44					0	0	0.029380	0	0
ARID1A	8289	broad.mit.edu	37	1	27101309	27101309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:27101309G>T	ENST00000324856.7	+	18	4962	c.4591G>T	c.(4591-4593)Gaa>Taa	p.E1531*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1148*|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1531					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1531*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCGAACAGATGAAATGCTGCA	0.612000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								5	63					0.014758	0.0152543	0.014758	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43826585	43826585	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:43826585G>T	ENST00000389420.3	-	20	2749	c.2750C>A	c.(2749-2751)tCa>tAa	p.S917*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S917*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S71*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	917	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding	p.S917*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACATTGGGATGAACATTCACT	0.368000													10	187					0.000673444	0.000700807	0.069234	1	0
ZNF682	91120	broad.mit.edu	37	19	20117297	20117297	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:20117297C>T	ENST00000397165.2	-	4	1174	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	ZNF682_ENST00000358523.5_Silent_p.E306E|ZNF682_ENST00000597972.1_Silent_p.E344E|ZNF682_ENST00000397162.1_Silent_p.E306E|ZNF682_ENST00000595736.1_Silent_p.E262E|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E338E(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATAGGGTTTCTCTCCCGTAT	0.383000													23	114					0	0	0.091800	0	0
FOXO3	2309	broad.mit.edu	37	6	108985341	108985341	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:108985341C>T	ENST00000406360.1	+	2	1648	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	FOXO3_ENST00000540898.1_Silent_p.F215F|FOXO3_ENST00000343882.6_Silent_p.F435F	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	435					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.F435F(2)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GCACGGTGTTCGGACCTTCAT	0.572000													4	114					0	0	0.014758	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705008	52705008	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52705008C>G	ENST00000287727.3	+	4	2091	c.1919C>G	c.(1918-1920)tCt>tGt	p.S640C	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S640C|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S640C			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	640					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.S640C(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGAAACATCTCTAATGTCGAT	0.378000													25	113					0	0	0.091800	0	0
COPB1	1315	broad.mit.edu	37	11	14502617	14502617	+	Silent	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:14502617T>C	ENST00000249923.3	-	9	1284	c.984A>G	c.(982-984)gtA>gtG	p.V328V	COPB1_ENST00000439561.2_Silent_p.V328V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	328					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.V328V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTGTGCTCAATACTCTTAGGA	0.363000													19	141					0	0	0.049695	0	0
CECR2	27443	broad.mit.edu	37	22	18022144	18022144	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:18022144C>G	ENST00000400573.5	+	16	2253	c.2246C>G	c.(2245-2247)tCt>tGt	p.S749C	CECR2_ENST00000400585.2_Missense_Mutation_p.S608C|CECR2_ENST00000262608.8_Missense_Mutation_p.S750C			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.S749C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGAGTACACTCTGCCGTCTGG	0.582000													7	43					0	0	0.029380	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136594141	136594141	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:136594141C>T	ENST00000355849.5	+	6	1042	c.632C>T	c.(631-633)gCc>gTc	p.A211V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	211					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.A211V(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GGAGTTACAGCCCGGCCAGTT	0.502000													18	95					0	0	0.055883	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066317	128066317	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:128066317G>C	ENST00000409947.1	-	16	1760	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	MAP3K2_ENST00000344908.5_Nonsense_Mutation_p.S493*			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	493	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	p.S493*(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTTGCCTGTTGAATCTCGCAG	0.433000													13	146					0	0	0.105934	0	0
ZNF793	390927	broad.mit.edu	37	19	38028585	38028585	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:38028585G>C	ENST00000445217.1	+	4	1060	c.1025G>C	c.(1024-1026)aGa>aCa	p.R342T	ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000542455.1_Missense_Mutation_p.R342T|ZNF793_ENST00000587143.1_Missense_Mutation_p.R342T|ZNF793_ENST00000588578.1_3'UTR			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R342T(1)		kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCGTTGCAGAGAATGTGGA	0.453000													4	70					0	0	0.014758	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	134					0	0	0.029380	0	0
RAI1	10743	broad.mit.edu	37	17	17700285	17700285	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:17700285C>G	ENST00000353383.1	+	3	4492	c.4023C>G	c.(4021-4023)ctC>ctG	p.L1341L	RAI1_ENST00000261641.6_Silent_p.L1341L	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1341						cytoplasm|nucleus	zinc ion binding	p.L1341L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGCCCAGCCTCAAGAAGTTCG	0.632000													22	78					0	0	0.055883	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421722	134421722	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:134421722C>T	ENST00000370766.3	-	7	3589	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF75D_ENST00000370764.1_Missense_Mutation_p.E199K|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	294	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E294K(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GTTTGTATTTCTGATGTAGAA	0.373000													14	105					0	0	0.024245	0	0
TFE3	7030	broad.mit.edu	37	X	48895743	48895743	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:48895743G>A	ENST00000315869.7	-	4	1018	c.759C>T	c.(757-759)atC>atT	p.I253I	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	253					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.I253I(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCTGGACCCGATGGTGAGCA	0.602000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								3	24					0	0	0.004672	0	0
KLHL6	89857	broad.mit.edu	37	3	183217456	183217456	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:183217456C>G	ENST00000341319.3	-	4	1104	c.1069G>C	c.(1069-1071)Gag>Cag	p.E357Q		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	357								p.E357Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AGCTCATGCTCTGTTAGCGGG	0.552000													15	218					0	0	0.028581	0	0
MMP9	4318	broad.mit.edu	37	20	44640217	44640217	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:44640217C>G	ENST00000372330.3	+	6	847	c.828C>G	c.(826-828)ctC>ctG	p.L276L		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	276					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.L276L(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CCCCAGGACTCTACACCCAGG	0.577000											OREG0025989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	66					0	0	0.029380	0	0
ZMYND10	51364	broad.mit.edu	37	3	50379109	50379109	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:50379109C>T	ENST00000231749.3	-	11	2415	c.1143G>A	c.(1141-1143)ctG>ctA	p.L381L	ZMYND10_ENST00000490675.1_5'UTR|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Silent_p.L376L	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	381						cytoplasm	protein binding|zinc ion binding	p.L381L(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTAGCACATCCAGCCTGTAGG	0.612000										TSP Lung(30;0.18)			12	67					0	0	0.043863	0	0
PXK	54899	broad.mit.edu	37	3	58377546	58377546	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:58377546G>A	ENST00000463280.1	+	5	579	c.488G>A	c.(487-489)tGt>tAt	p.C163Y	PXK_ENST00000536660.1_Missense_Mutation_p.C59Y|PXK_ENST00000302779.5_Missense_Mutation_p.C179Y|PXK_ENST00000479241.1_Missense_Mutation_p.C179Y|PXK_ENST00000484288.1_Missense_Mutation_p.C196Y|PXK_ENST00000356151.2_Missense_Mutation_p.C196Y|PXK_ENST00000383715.4_Missense_Mutation_p.C179Y|PXK_ENST00000383716.3_Missense_Mutation_p.C163Y			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	196	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	p.C196Y(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATTTTCAGTGTCTAATCAAA	0.383000													20	233					0	0	0.069288	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940841	52940841	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940841G>C	ENST00000371544.3	-	13	2652	c.2390C>G	c.(2389-2391)tCt>tGt	p.S797C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S797C|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	797					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.S797C(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AAGAGATGAAGAGTCCTGTCC	0.358000													13	225					0	0	0.020292	0	0
RASGRP1	10125	broad.mit.edu	37	15	38808463	38808463	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:38808463G>C	ENST00000310803.5	-	6	787	c.610C>G	c.(610-612)Ctg>Gtg	p.L204V	RASGRP1_ENST00000558164.1_Missense_Mutation_p.L204V|RASGRP1_ENST00000561180.1_Missense_Mutation_p.L255V|RASGRP1_ENST00000539159.1_Missense_Mutation_p.L156V|RASGRP1_ENST00000559830.1_Missense_Mutation_p.L204V|RASGRP1_ENST00000450598.2_Missense_Mutation_p.L204V	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	204					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	p.L204V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTGGTTCCAGATGGTCAAAG	0.468000													4	98					0	0	0.009096	0	0
SGK223	157285	broad.mit.edu	37	8	8175847	8175847	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:8175847C>A	ENST00000520004.1	-	6	4302	c.4038G>T	c.(4036-4038)acG>acT	p.T1346T	SGK223_ENST00000330777.4_Silent_p.T1346T			Q86YV5	SG223_HUMAN		1346							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.T1346T(1)|p.T1348T(1)									AGTTGTGCAGCGTGCCGCACA	0.677000													5	97					1.23904e-05	1.31009e-05	0.014758	1	0
SPRED1	161742	broad.mit.edu	37	15	38591726	38591726	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:38591726G>A	ENST00000299084.4	+	2	1045	c.185G>A	c.(184-186)gGa>gAa	p.G62E	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	62	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding	p.G62E(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TTTATCCGTGGAGAGCGACTC	0.388000									Legius syndrome				7	94					0	0	0.029380	0	0
NIPBL	25836	broad.mit.edu	37	5	37045560	37045560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:37045560T>A	ENST00000282516.8	+	37	6858	c.6359T>A	c.(6358-6360)tTa>tAa	p.L2120*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.L2120*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2120					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.L2120*(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTTCAAAATTAAAAAGTCAA	0.303000													51	151					0	0	0.048971	0	0
GLS	2744	broad.mit.edu	37	2	191818302	191818302	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:191818302G>C	ENST00000320717.3	+	15	1920	c.1662G>C	c.(1660-1662)gtG>gtC	p.V554V	GLS_ENST00000409428.1_Silent_p.V59V	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	554					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	p.V554V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAAGTCAGTGATAAATCTTT	0.388000													4	310					0	0	0.009096	0	0
TANC1	85461	broad.mit.edu	37	2	160035372	160035372	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:160035372C>T	ENST00000263635.6	+	14	2445	c.2208C>T	c.(2206-2208)ctC>ctT	p.L736L	TANC1_ENST00000454300.1_Silent_p.L630L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	736						cell junction|postsynaptic density|postsynaptic membrane	binding	p.L736L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCTCTGAGCTCTATTTGCTTC	0.552000													29	268					0	0	0.037714	0	0
OR5K1	26339	broad.mit.edu	37	3	98188798	98188798	+	Silent	SNP	A	A	C	rs112214721		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:98188798A>C	ENST00000332650.5	+	1	475	c.378A>C	c.(376-378)atA>atC	p.I126I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I126I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTGGCCATATGCAACCCAC	0.468000													31	247					0	0	0.041601	0	0
THADA	63892	broad.mit.edu	37	2	43519295	43519295	+	Missense_Mutation	SNP	G	G	C	rs34600960		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:43519295G>C	ENST00000405006.4	-	33	5236	c.4885C>G	c.(4885-4887)Ctg>Gtg	p.L1629V	THADA_ENST00000415080.2_Missense_Mutation_p.L1310V|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.L1629V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1629							binding	p.L1629V(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTTGGGGTCAGATGGACACAG	0.488000													3	17					0	0	0.009096	0	0
SLC7A1	6541	broad.mit.edu	37	13	30106971	30106971	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:30106971G>C	ENST00000380752.5	-	4	905	c.519C>G	c.(517-519)ctC>ctG	p.L173L		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	173					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	p.L173L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGTCAAGATGAGAATTATGA	0.493000													7	100					0	0	0.058154	0	0
SFR1	119392	broad.mit.edu	37	10	105882813	105882813	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:105882813C>T	ENST00000336358.5	+	1	809	c.290C>T	c.(289-291)tCa>tTa	p.S97L	SFR1_ENST00000463224.1_3'UTR|SFR1_ENST00000369727.3_Missense_Mutation_p.S35L|SFR1_ENST00000369729.3_Missense_Mutation_p.S22L			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	35					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	p.S22L(1)									GCGAATCCATCATCTCCCTAT	0.398000													44	92					0	0	0.111260	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704876	52704876	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704876C>T	ENST00000287727.3	+	4	1959	c.1787C>T	c.(1786-1788)tCa>tTa	p.S596L	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S596L|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S596L			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	596					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.S596L(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AAGCCATTATCAGACCATTTA	0.378000													12	77					0	0	0.080935	0	0
PPBP	5473	broad.mit.edu	37	4	74853297	74853297	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:74853297G>A	ENST00000296028.3	-	2	314	c.221C>T	c.(220-222)cCc>cTc	p.P74L		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	74					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	p.P74L(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GATGTTTTTGGGATGAATTCC	0.428000													27	72					0	0	0.030593	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64554056	64554056	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:64554056G>A	ENST00000498707.1	-	29	4854	c.4512C>T	c.(4510-4512)ggC>ggT	p.G1504G	ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.G1476G|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1504	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G1504G(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GACTCCAAGCGCCAGCTTTCC	0.512000													4	100					0	0	0.009096	0	0
HP1BP3	50809	broad.mit.edu	37	1	21103139	21103139	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:21103139C>T	ENST00000312239.5	-	4	440	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HP1BP3_ENST00000375000.1_Missense_Mutation_p.E101K|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	101					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E101K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCTTCATTCTCAGGTTCCCCC	0.403000													65	147					0	0	0.048971	0	0
CLIC6	54102	broad.mit.edu	37	21	36088774	36088774	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:36088774G>A	ENST00000360731.3	+	7	2109	c.2109G>A	c.(2107-2109)atG>atA	p.M703I	CLIC6_ENST00000349499.2_Missense_Mutation_p.M685I			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	703	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.M685I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						CAAAAAGAATGAAATGAAGCT	0.373000													6	100					0	0	0.021553	0	0
CCDC9	26093	broad.mit.edu	37	19	47761897	47761897	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:47761897G>C	ENST00000221922.6	+	3	307	c.85G>C	c.(85-87)Gag>Cag	p.E29Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	29								p.E29Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGGAAGAATGAGGCCCTCAT	0.582000													3	74					0	0	0.009096	0	0
KMT2A	4297	broad.mit.edu	37	11	118374132	118374132	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:118374132G>C	ENST00000534358.1	+	27	7548	c.7525G>C	c.(7525-7527)Gaa>Caa	p.E2509Q	KMT2A_ENST00000389506.5_Missense_Mutation_p.E2506Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.E2468Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.E2509K(1)|p.E2506K(1)|p.E2509Q(1)|p.E2506Q(1)									CATGCAAGTAGAAGGATCTGC	0.448000													9	72					0	0	0.058154	0	0
NALCN	259232	broad.mit.edu	37	13	101944589	101944589	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:101944589C>T	ENST00000251127.6	-	8	1009	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A310T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	310						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.A310T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAAGCCAGGCGAGGAAGAAA	0.458000													10	38					0	0	0.080935	0	0
METTL15	196074	broad.mit.edu	37	11	28232683	28232683	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:28232683C>G	ENST00000342303.5	+	4	800	c.345C>G	c.(343-345)ctC>ctG	p.L115L	METTL15_ENST00000407364.3_Silent_p.L115L|METTL15_ENST00000303459.6_Silent_p.L115L|METTL15_ENST00000406787.3_Silent_p.L115L	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	115							methyltransferase activity	p.L115L(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						ATATTGTTCTCTATGCCTTGG	0.378000													6	103					0	0	0.021553	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535561	27535561	+	RNA	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:27535561C>T	ENST00000574842.1	+	0	255																											GAAGCTTCATCAGGAGGCCTG	0.488000													16	165					0	0	0.028581	0	0
FBXO42	54455	broad.mit.edu	37	1	16641903	16641903	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16641903G>A	ENST00000375592.3	-	2	227	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	4								p.S4F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACTGTCCGAGGAGCTGGCCAT	0.458000													10	65					0	0	0.080935	0	0
KLHL23	151230	broad.mit.edu	37	2	170597983	170597983	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:170597983C>A	ENST00000392647.2	+	3	1546	c.1302C>A	c.(1300-1302)gaC>gaA	p.D434E	KLHL23_ENST00000272797.4_Missense_Mutation_p.D434E|KLHL23_ENST00000602521.1_5'UTR	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	434								p.D434E(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						GCACCTATGACAAAGTTCAGA	0.438000													5	106					0.0215528	0.0221288	0.021553	1	0
OGN	4969	broad.mit.edu	37	9	95155527	95155527	+	Splice_Site	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:95155527C>T	ENST00000262551.4	-	4	689		c.e4-1		OGN_ENST00000375561.5_Splice_Site|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin							extracellular space|proteinaceous extracellular matrix	growth factor activity	p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						GTGGGCATTTCTAAATTGGGA	0.333000													6	43					0	0	0.029380	0	0
ATXN7	6314	broad.mit.edu	37	3	63975994	63975994	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:63975994G>A	ENST00000398590.3	+	10	2057	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	ATXN7_ENST00000295900.6_Missense_Mutation_p.E502K|ATXN7_ENST00000487717.1_Missense_Mutation_p.E502K|ATXN7_ENST00000538065.1_Missense_Mutation_p.E502K|ATXN7_ENST00000484332.1_Missense_Mutation_p.E357K	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	502					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.E502K(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TGACAAAGAAGAGTCTGTTGA	0.552000													5	103					0	0	0.021553	0	0
NRXN1	9378	broad.mit.edu	37	2	50779755	50779755	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:50779755G>A	ENST00000404971.1	-	10	3188	c.1849C>T	c.(1849-1851)Cat>Tat	p.H617Y	NRXN1_ENST00000406316.2_Missense_Mutation_p.H577Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.H577Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.H577Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.H569Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.H569Y|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	577	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.H618N(1)|p.H577Y(1)|p.H617Y(1)|p.H577N(1)|p.H618Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AAGTCCACATGATACCATTCT	0.458000													8	173					0	0	0.058154	0	0
VNN2	8875	broad.mit.edu	37	6	133070857	133070857	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:133070857G>A	ENST00000326499.6	-	6	1472	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	VNN2_ENST00000525270.1_Missense_Mutation_p.H397Y|VNN2_ENST00000525289.1_Missense_Mutation_p.H229Y	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	450					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	p.H450Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GGTGACAGATGAATTTCGGTA	0.378000													4	60					0	0	0.009096	0	0
PLSCR5	389158	broad.mit.edu	37	3	146311797	146311797	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:146311797C>T	ENST00000443512.1	-	4	1366	c.363G>A	c.(361-363)ctG>ctA	p.L121L	PLSCR5_ENST00000482567.1_Silent_p.L109L|PLSCR5_ENST00000492200.1_Silent_p.L121L	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	121								p.L121L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CTGTGATCCTCAGGGTGCAAG	0.453000													11	223					0	0	0.069234	0	0
TEX26	122046	broad.mit.edu	37	13	31543165	31543165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:31543165C>T	ENST00000380473.3	+	6	803	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	264								p.Q264*(1)									AGAGTACCTTCAGAGTCTTTC	0.368000													7	129					0	0	0.038147	0	0
C17orf47	284083	broad.mit.edu	37	17	56620137	56620137	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56620137C>G	ENST00000321691.3	-	1	1592	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	471								p.E471Q(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCAGATCCTCACAGAAAGGG	0.493000													30	462					0	0	0.037714	0	0
ZNF438	220929	broad.mit.edu	37	10	31138355	31138355	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:31138355C>A	ENST00000452305.1	-	8	1512	c.949G>T	c.(949-951)Gat>Tat	p.D317Y	ZNF438_ENST00000413025.1_Missense_Mutation_p.D327Y|ZNF438_ENST00000538351.2_Missense_Mutation_p.D278Y|ZNF438_ENST00000436087.2_Missense_Mutation_p.D327Y|ZNF438_ENST00000442986.1_Missense_Mutation_p.D327Y|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.D327Y|ZNF438_ENST00000331737.6_Missense_Mutation_p.D317Y|ZNF438_ENST00000444692.2_Missense_Mutation_p.D317Y	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D327Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTATCTTATCACAGTCGGCC	0.468000													11	167					0.00829132	0.00858943	0.069234	1	0
DHX29	54505	broad.mit.edu	37	5	54579357	54579357	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:54579357C>T	ENST00000251636.5	-	11	1787	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	547							ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.E547K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CTAACAGGTTCCAAATCTTCC	0.398000													16	224					0	0	0.024245	0	0
KPNA1	3836	broad.mit.edu	37	3	122186201	122186201	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:122186201C>T	ENST00000344337.6	-	3	381	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	69					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	p.E69K(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATCTGAGCCTCATGAAAGCCT	0.363000													8	95					0	0	0.038147	0	0
SCG3	29106	broad.mit.edu	37	15	51988109	51988109	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:51988109C>G	ENST00000220478.3	+	8	1309	c.906C>G	c.(904-906)atC>atG	p.I302M	SCG3_ENST00000542355.2_Missense_Mutation_p.I70M	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	302					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.I302M(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TGATTACTATCATGAAAACAC	0.333000													72	110					0	0	0.048971	0	0
ZNF236	7776	broad.mit.edu	37	18	74587572	74587572	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:74587572C>T	ENST00000253159.8	+	6	984	c.786C>T	c.(784-786)ttC>ttT	p.F262F	ZNF236_ENST00000320610.9_Silent_p.F264F	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	262					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F262F(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTGCCGCCTTCTCTCAGAAAG	0.532000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	137					0	0	0.058154	0	0
DCC	1630	broad.mit.edu	37	18	50592482	50592482	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:50592482G>A	ENST00000442544.2	+	7	1823	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.E58K|DCC_ENST00000412726.1_Missense_Mutation_p.E251K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	403	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.E403K(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTGTGGCTGAAAATGAGGC	0.438000													19	150					0	0	0.043863	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94915637	94915637	+	Splice_Site	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:94915637G>T	ENST00000289495.5	+	16	3711	c.3495G>T	c.(3493-3495)gaG>gaT	p.E1165D	PPP1R9A_ENST00000424654.1_Splice_Site_p.E1183D|PPP1R9A_ENST00000433881.1_Splice_Site_p.E959D|PPP1R9A_ENST00000456331.2_Splice_Site_p.E1183D|PPP1R9A_ENST00000340694.4_Splice_Site_p.E959D|PPP1R9A_ENST00000433360.1_Splice_Site_p.E1243D	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	959						cell junction|synapse|synaptosome	actin binding	p.E1183D(1)|p.E1243D(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CATCAGATGAGGTAATTCCAT	0.458000										HNSCC(28;0.073)			4	85					0.00024832	0.000260172	0.009096	1	0
BTN2A1	11120	broad.mit.edu	37	6	26468591	26468591	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:26468591G>A	ENST00000312541.5	+	8	1646	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	BTN2A1_ENST00000541522.1_Missense_Mutation_p.M405I|BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	466	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane		p.M466I(1)|p.M452I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCTACAACATGAGGGACAGAT	0.552000													5	163					0	0	0.021553	0	0
MYO6	4646	broad.mit.edu	37	6	76576333	76576333	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:76576333G>A	ENST00000369981.3	+	17	2044	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	MYO6_ENST00000369975.1_Missense_Mutation_p.E589K|MYO6_ENST00000369977.3_Missense_Mutation_p.E589K|MYO6_ENST00000369985.4_Missense_Mutation_p.E589K			Q9UM54	MYO6_HUMAN	myosin VI	589	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.E589K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGTGTGCTATGAAACAGTGAG	0.393000													8	62					0	0	0.038147	0	0
TRANK1	9881	broad.mit.edu	37	3	36874809	36874809	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:36874809C>T	ENST00000301807.6	-	21	6380	c.4483G>A	c.(4483-4485)Gaa>Aaa	p.E1495K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E1495K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E2045K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2045					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E1495K(1)|p.E1488K(1)|p.E2045K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGAGGATTTCCAAGCCCCCT	0.532000													6	91					0	0	0.029380	0	0
SYT7	9066	broad.mit.edu	37	11	61291406	61291406	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:61291406C>T	ENST00000263846.4	-	7	1127	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	SYT7_ENST00000542670.1_Missense_Mutation_p.R475Q|SYT7_ENST00000539008.1_Missense_Mutation_p.R550Q|SYT7_ENST00000542836.1_Missense_Mutation_p.R311Q|SYT7_ENST00000540677.1_Missense_Mutation_p.R342Q|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Missense_Mutation_p.R386Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	267						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.R267Q(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAGCTCCCCTCGGCTCCCCTG	0.607000													13	205					0	0	0.020292	0	0
PEX5L	51555	broad.mit.edu	37	3	179526147	179526147	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:179526147C>G	ENST00000467460.1	-	13	1761	c.1431G>C	c.(1429-1431)caG>caC	p.Q477H	PEX5L_ENST00000263962.8_Missense_Mutation_p.Q475H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q369H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q453H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q418H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q285H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q369H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q434H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q442H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	477					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	p.Q477H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTAGACCTGTCTGCAGGTCTG	0.443000													11	159					0	0	0.080935	0	0
CTNNA3	29119	broad.mit.edu	37	10	68040318	68040318	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:68040318C>T	ENST00000433211.2	-	13	1968	c.1794G>A	c.(1792-1794)ttG>ttA	p.L598L	CTNNA3_ENST00000373744.4_Silent_p.L598L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.L598L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAACACATTCAATGAGCTTT	0.343000													11	140					0	0	0.069234	0	0
TLR6	10333	broad.mit.edu	37	4	38831092	38831092	+	Translation_Start_Site	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:38831092C>T	ENST00000436693.2	-	2	122	c.3G>A	c.(1-3)atG>atA	p.M1I	TLR6_ENST00000381950.1_Start_Codon_SNP_p.M1I	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	1					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.M1I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTCTTTGGTCATGATGTTGC	0.343000													5	165					0	0	0.014758	0	0
DNAH5	1767	broad.mit.edu	37	5	13865914	13865914	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:13865914C>G	ENST00000265104.4	-	27	4322	c.4218G>C	c.(4216-4218)aaG>aaC	p.K1406N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1406	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1406N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGTTGCTTCTTTATTTCAA	0.343000									Kartagener syndrome				19	113					0	0	0.049695	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103086469	103086469	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:103086469A>C	ENST00000375735.2	+	55	8858	c.8714A>C	c.(8713-8715)aAt>aCt	p.N2905T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2905T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2905	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.N338T(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTAAACTAAATGAAGCTAAA	0.343000													3	19					0	0	0.004672	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704276	52704276	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52704276C>T	ENST00000287727.3	+	4	1359	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.S396F|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.S396F			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	396					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.S396F(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TTCTCTGAATCTCAGGACATG	0.368000													25	126					0	0	0.099896	0	0
CACNA1F	778	broad.mit.edu	37	X	49070628	49070628	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:49070628G>C	ENST00000376265.2	-	30	3793	c.3732C>G	c.(3730-3732)ttC>ttG	p.F1244L	CACNA1F_ENST00000376251.1_Missense_Mutation_p.F1179L|CACNA1F_ENST00000323022.5_Missense_Mutation_p.F1233L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1244					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.F1244L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTTGGGCTTGAAGGCGATGA	0.547000													6	55					0	0	0.021553	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977699	12977699	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:12977699C>T	ENST00000273221.4	-	3	1075	c.859G>A	c.(859-861)Ggc>Agc	p.G287S		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	287					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	p.G287S(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGTCCATGCCGTGCAGGGCT	0.662000													12	97					0	0	0.080935	0	0
KAT6B	23522	broad.mit.edu	37	10	76744917	76744917	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:76744917A>G	ENST00000287239.4	+	12	2942	c.2453A>G	c.(2452-2454)tAt>tGt	p.Y818C	KAT6B_ENST00000372714.1_Missense_Mutation_p.Y526C|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y635C|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y526C|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y526C	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	818	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.Y818C(1)									AAAACGTTGTATTATGATGTC	0.383000													16	101					0	0	0.028581	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	83					0	0	0.009096	0	0
MPO	4353	broad.mit.edu	37	17	56350157	56350157	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:56350157C>G	ENST00000340482.3	-	9	2016	c.1840G>C	c.(1840-1842)Gac>Cac	p.D614H	MPO_ENST00000225275.3_Missense_Mutation_p.D582H			P05164	PERM_HUMAN	myeloperoxidase	582					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.D582H(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCAGGCAGGTCCAGCCCAATC	0.617000													12	210					0	0	0.080935	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535663	27535663	+	RNA	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:27535663C>T	ENST00000574842.1	+	0	255																											TGAGCCTTCTCACATTGTTGT	0.498000													34	194					0	0	0.059317	0	0
CASC4	113201	broad.mit.edu	37	15	44695105	44695105	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:44695105G>C	ENST00000299957.6	+	9	1392	c.1093G>C	c.(1093-1095)Gaa>Caa	p.E365Q	CASC4_ENST00000345795.2_Intron|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_Intron	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	365						integral to membrane		p.E365Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGATGAAAATGAATCCCCTGT	0.453000													8	75					0	0	0.047766	0	0
PDE12	201626	broad.mit.edu	37	3	57543244	57543244	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:57543244G>A	ENST00000311180.8	+	1	1241	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	PDE12_ENST00000487257.1_Missense_Mutation_p.E380K	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	380							hydrolase activity	p.E380K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CAAGCAGCACGAAGGCCTGGC	0.537000													4	74					0	0	0.009096	0	0
MCU	90550	broad.mit.edu	37	10	74619017	74619017	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:74619017C>G	ENST00000536019.1	+	3	601	c.156C>G	c.(154-156)ctC>ctG	p.L52L	MCU_ENST00000357157.6_Silent_p.L101L|MCU_ENST00000373053.3_Silent_p.L101L	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	101					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	p.L101L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGTTCACACTCAAGCCTATCT	0.443000													10	194					0	0	0.058154	0	0
SUSD5	26032	broad.mit.edu	37	3	33194715	33194715	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:33194715G>C	ENST00000309558.3	-	5	1826	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	470					cell adhesion	integral to membrane	hyaluronic acid binding	p.S470*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGTAGAGTTGACTGGTACTT	0.517000													3	61					0	0	0.004672	0	0
IL20	50604	broad.mit.edu	37	1	207039849	207039849	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:207039849C>A	ENST00000367098.1	+	4	609	c.246C>A	c.(244-246)ctC>ctA	p.L82L	IL20_ENST00000367096.3_Silent_p.L82L|IL20_ENST00000391930.2_Silent_p.L82L			Q9NYY1	IL20_HUMAN	interleukin 20	82					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	p.L82L(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GATGCTGCCTCCTGCGCCATT	0.512000													30	541					3.90053e-15	4.2409e-15	0.050027	1	0
WHSC1	7468	broad.mit.edu	37	4	1980413	1980413	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:1980413C>T	ENST00000382895.3	+	24	4306	c.3875C>T	c.(3874-3876)tCg>tTg	p.S1292L	WHSC1_ENST00000508803.1_Missense_Mutation_p.S1292L|WHSC1_ENST00000382892.2_Missense_Mutation_p.S1292L|WHSC1_ENST00000382891.5_Missense_Mutation_p.S1292L|WHSC1_ENST00000382888.3_Missense_Mutation_p.S640L|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1292					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S1292L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGCAAACCTTCGACTTCATTT	0.542000			T	IGH@	MM								12	89					0	0	0.080935	0	0
COL5A1	1289	broad.mit.edu	37	9	137676852	137676852	+	Silent	SNP	C	C	T	rs144775947		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:137676852C>T	ENST00000371817.3	+	30	2916	c.2502C>T	c.(2500-2502)ccC>ccT	p.P834P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	834	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P834P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGGCCCACCCGGTCCCAGGG	0.617000													3	45					0	0	0.014758	0	0
GPR21	2844	broad.mit.edu	37	9	125797112	125797112	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:125797112C>T	ENST00000373642.1	+	1	307	c.267C>T	c.(265-267)ctC>ctT	p.L89L	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	89						integral to plasma membrane	G-protein coupled receptor activity	p.L89L(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						CTTTATCACTCCTCCATCACC	0.463000													36	44					0	0	0.059317	0	0
R3HDM1	23518	broad.mit.edu	37	2	136433011	136433011	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:136433011G>C	ENST00000264160.4	+	19	2527	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q720H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q664H|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q590H|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q591H	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	719							nucleic acid binding	p.Q719H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTGGAAATCAGATTCAAGGAG	0.423000													10	135					0	0	0.080935	0	0
PSMG1	8624	broad.mit.edu	37	21	40547517	40547517	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:40547517C>G	ENST00000331573.3	-	7	1331	c.866G>C	c.(865-867)tGa>tCa	p.*289S	PSMG1_ENST00000380900.2_Nonstop_Mutation_p.*268S	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	0					proteasome assembly	endoplasmic reticulum	protein binding	p.*289S(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TGTTTAAGATCATGTATAAAT	0.333000											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	77					0	0	0.009096	0	0
PRKD1	5587	broad.mit.edu	37	14	30105594	30105594	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:30105594C>A	ENST00000331968.5	-	7	1321	c.1092G>T	c.(1090-1092)atG>atT	p.M364I	PRKD1_ENST00000415220.2_Missense_Mutation_p.M372I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	364					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.M364I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATCTTGGACCATTGCTTCTT	0.517000													17	151					8.00594e-06	8.52364e-06	0.043863	1	0
MYO9B	4650	broad.mit.edu	37	19	17305659	17305659	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:17305659C>G	ENST00000595618.1	+	22	3575	c.3423C>G	c.(3421-3423)gtC>gtG	p.V1141V	MYO9B_ENST00000594824.1_Silent_p.V1141V|MYO9B_ENST00000397274.2_Silent_p.V1141V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1141	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	p.V1141V(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACGAGAAAGTCCCCAGCAGCC	0.607000													4	26					0	0	0.009096	0	0
TMC4	147798	broad.mit.edu	37	19	54667458	54667458	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:54667458G>A	ENST00000376591.4	-	8	1424	c.1293C>T	c.(1291-1293)ctC>ctT	p.L431L	TMC4_ENST00000301187.4_Silent_p.L425L	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	431						integral to membrane		p.L425L(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGAACCTGAGCAGGATAA	0.567000											OREG0003641	type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	74					0	0	0.021553	0	0
COL19A1	1310	broad.mit.edu	37	6	70639365	70639365	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:70639365C>G	ENST00000322773.4	+	6	541	c.439C>G	c.(439-441)Caa>Gaa	p.Q147E		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	147	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.Q147E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATTTATGTTTCAAGCCACAGA	0.338000													4	66					0	0	0.029380	0	0
PSG5	5673	broad.mit.edu	37	19	43680125	43680125	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:43680125G>A	ENST00000404580.1	-	3	694	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Silent_p.L202L|PSG5_ENST00000599812.1_Silent_p.L295L|PSG5_ENST00000407356.1_Silent_p.L202L|PSG5_ENST00000342951.6_Silent_p.L202L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	202	Ig-like C2-type 1.				female pregnancy	extracellular region		p.L202L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGGGTAGAATGAGGATCCTGT	0.507000													6	277					0	0	0.038147	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70065826	70065826	+	RNA	SNP	T	T	C	rs3169319	by1000genomes	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:70065826T>C	ENST00000531894.1	-	0	796					NR_003610.1													p.M209V(4)									GATCCAAACATAGTGTTACAG	0.453000													3	145					0	0	0.004672	0	0
MNDA	4332	broad.mit.edu	37	1	158813830	158813830	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:158813830G>A	ENST00000368141.4	+	4	749	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	163					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.G163E(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGTCCCTCAGGAGCCAGCACA	0.483000													10	143					0	0	0.080935	0	0
RNF220	55182	broad.mit.edu	37	1	45115332	45115332	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:45115332G>A	ENST00000355387.2	+	13	1895		c.e13-1		TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_Splice_Site|RNF220_ENST00000443020.2_Splice_Site|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000361799.2_Splice_Site|RNF220_ENST00000372247.2_Splice_Site|TMEM53_ENST00000372244.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.?(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCTTTTTACAGAATCACCGAA	0.507000													8	124					0	0	0.038147	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220601	130220601	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:130220601G>T	ENST00000276211.5	+	11	1793	c.1448G>T	c.(1447-1449)cGg>cTg	p.R483L	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R347L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R471L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R483L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTGAAGCCCGGGCTGCTGTC	0.512000													40	26					1.76056e-25	1.93242e-25	0.042209	1	0
TTC23	64927	broad.mit.edu	37	15	99759146	99759146	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:99759146C>G	ENST00000394132.2	-	7	1229	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	TTC23_ENST00000394135.3_Missense_Mutation_p.E138Q|TTC23_ENST00000558663.1_Missense_Mutation_p.E138Q|TTC23_ENST00000558613.1_Missense_Mutation_p.E138Q|TTC23_ENST00000394136.1_Missense_Mutation_p.E138Q|TTC23_ENST00000394129.2_Missense_Mutation_p.E138Q|TTC23_ENST00000394130.1_Missense_Mutation_p.E138Q|TTC23_ENST00000262074.4_Missense_Mutation_p.E138Q			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	138							binding	p.E138Q(1)		endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGGAAAAGCTCAATGGAAAAC	0.393000													19	216					0	0	0.043863	0	0
CDAN1	146059	broad.mit.edu	37	15	43025301	43025301	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:43025301C>T	ENST00000356231.3	-	9	1474	c.1451G>A	c.(1450-1452)aGa>aAa	p.R484K		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	484						integral to membrane	protein binding	p.R484K(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CCACCTGATTCTGCTGCCCAA	0.552000													8	76					0	0	0.038147	0	0
SALL2	6297	broad.mit.edu	37	14	21993519	21993519	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:21993519C>T	ENST00000327430.3	-	2	637	c.343G>A	c.(343-345)Gag>Aag	p.E115K	SALL2_ENST00000317492.5_Missense_Mutation_p.E115K|SALL2_ENST00000450879.2_Missense_Mutation_p.E113K|SALL2_ENST00000538754.1_Missense_Mutation_p.E113K	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	115							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E115K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCTCCTCTCTGGGCCCCAG	0.642000													5	74					0	0	0.014758	0	0
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:20048070G>C	ENST00000400230.2	-	6	420	c.376C>G	c.(376-378)Cga>Gga	p.R126G	TPTE2_ENST00000255310.6_Missense_Mutation_p.R89G|TPTE2_ENST00000382978.1_Missense_Mutation_p.R126G|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.R126G|TPTE2_ENST00000382977.4_Missense_Mutation_p.R126G|TPTE2_ENST00000390680.2_Missense_Mutation_p.R89G|TPTE2_ENST00000457266.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	126						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358000													9	76					0	0	0.047766	0	0
ZNF510	22869	broad.mit.edu	37	9	99522220	99522220	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:99522220C>G	ENST00000375231.1	-	6	1542	c.892G>C	c.(892-894)Gac>Cac	p.D298H	ZNF510_ENST00000223428.4_Missense_Mutation_p.D298H			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D298H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTCCTGTGGTCAAAGAGAGTT	0.358000													8	112					0	0	0.038147	0	0
ARID1A	8289	broad.mit.edu	37	1	27102121	27102121	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:27102121G>C	ENST00000324856.7	+	19	5418	c.5047G>C	c.(5047-5049)Gag>Cag	p.E1683Q	ARID1A_ENST00000374152.2_Missense_Mutation_p.E1300Q|ARID1A_ENST00000540690.1_Missense_Mutation_p.E11Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1466Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1683					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1683Q(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCCTGGCAGAGAGCACATG	0.522000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	27					0	0	0.029380	0	0
CEP85L	387119	broad.mit.edu	37	6	118791768	118791768	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:118791768G>C	ENST00000368491.3	-	11	2575	c.1954C>G	c.(1954-1956)Caa>Gaa	p.Q652E	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q655E	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	652						centrosome		p.Q652E(1)									ATCATCTTTTGAGTGGTCAGT	0.308000													5	118					0	0	0.029380	0	0
TRPV5	56302	broad.mit.edu	37	7	142605898	142605898	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:142605898C>T	ENST00000265310.1	-	15	2320	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	658					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.D658N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCTGGTCATCCTCCTTGTCT	0.532000													6	66					0	0	0.021553	0	0
SETD2	29072	broad.mit.edu	37	3	47158213	47158213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:47158213G>A	ENST00000409792.3	-	4	4528	c.4486C>T	c.(4486-4488)Cga>Tga	p.R1496*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1496	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R993*(1)|p.R1496*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CACTGCATTCGCTTAATATCT	0.313000			"""N, F, S, Mis"""		clear cell renal carcinoma								12	139					0	0	0.080935	0	0
SNX25	83891	broad.mit.edu	37	4	186278863	186278863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:186278863C>T	ENST00000504273.1	+	16	2425	c.2131C>T	c.(2131-2133)Cag>Tag	p.Q711*	SNX25_ENST00000264694.8_Nonsense_Mutation_p.Q711*|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	711					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.Q711*(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TGCCCTCGTTCAGGTCACTTT	0.368000													10	104					0	0	0.058154	0	0
CASP8	841	broad.mit.edu	37	2	202149756	202149756	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:202149756C>G	ENST00000358485.4	+	8	1393	c.1197C>G	c.(1195-1197)ttC>ttG	p.F399L	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.F256L|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.F325L|CASP8_ENST00000432109.2_Missense_Mutation_p.F340L|CASP8_ENST00000264275.5_Missense_Mutation_p.F357L	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	340					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.F357L(2)|p.F399L(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CATCTCAGTTCACTGGTTTGA	0.488000										HNSCC(4;0.00038)			4	218					0	0	0.009096	0	0
LTK	4058	broad.mit.edu	37	15	41805071	41805071	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41805071C>G	ENST00000263800.6	-	3	289	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	LTK_ENST00000453182.2_Missense_Mutation_p.E65Q|LTK_ENST00000355166.5_Missense_Mutation_p.E65Q|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	65					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E65Q(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAAGACCCCTCGGTGCCTGAG	0.652000										TSP Lung(18;0.14)			3	44					0	0	0.009096	0	0
SPATA21	374955	broad.mit.edu	37	1	16727277	16727277	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16727277C>T	ENST00000335496.1	-	11	1594	c.1112G>A	c.(1111-1113)aGc>aAc	p.S371N	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.S348N	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	371							calcium ion binding	p.S371N(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AACTTCTGAGCTCTCTTCTTG	0.592000													17	209					0	0	0.028581	0	0
FOXM1	2305	broad.mit.edu	37	12	2968590	2968590	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:2968590C>G	ENST00000342628.2	-	10	1733	c.1620G>C	c.(1618-1620)tgG>tgC	p.W540C	FOXM1_ENST00000361953.3_Missense_Mutation_p.W487C|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Missense_Mutation_p.W502C	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	502					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	p.W540C(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ACGAATCCTCCCAGGAGTGAG	0.547000													5	201					0	0	0.021553	0	0
HRH1	3269	broad.mit.edu	37	3	11301597	11301597	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:11301597G>A	ENST00000397056.1	+	3	1065	c.874G>A	c.(874-876)Gag>Aag	p.E292K	HRH1_ENST00000431010.2_Missense_Mutation_p.E292K|HRH1_ENST00000438284.2_Missense_Mutation_p.E292K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	292					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	p.E292K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTTCAGCCAAGAGGATGATAG	0.493000													8	127					0	0	0.038147	0	0
PLRG1	5356	broad.mit.edu	37	4	155458505	155458505	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:155458505G>C	ENST00000499023.2	-	14	1544	c.1418C>G	c.(1417-1419)tCt>tGt	p.S473C	PLRG1_ENST00000302078.5_Missense_Mutation_p.S464C|PLRG1_ENST00000393905.2_Missense_Mutation_p.S473C	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	473						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.S473C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TCGACTTTCAGACTGATCAAA	0.408000													15	41					0	0	0.024245	0	0
OR51B6	390058	broad.mit.edu	37	11	5372785	5372785	+	Silent	SNP	A	A	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:5372785A>C	ENST00000380219.1	+	1	48	c.48A>C	c.(46-48)ccA>ccC	p.P16P	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P16P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTTCCCAGGCATGGAGA	0.453000													6	39					0	0	0.047766	0	0
HMGB2	3148	broad.mit.edu	37	4	174254744	174254744	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:174254744G>A	ENST00000296503.5	-	2	930	c.57C>T	c.(55-57)ttC>ttT	p.F19F	HMGB2_ENST00000438704.2_Silent_p.F19F|HMGB2_ENST00000446922.2_Silent_p.F19F			P26583	HMGB2_HUMAN	high mobility group box 2	19					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	p.F19F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGGTCTGCACGAAGAAGGCGT	0.582000													7	70					0	0	0.029380	0	0
VWA9	81556	broad.mit.edu	37	15	65891286	65891286	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:65891286C>G	ENST00000395644.4	-	5	864	c.529G>C	c.(529-531)Gat>Cat	p.D177H	VWA9_ENST00000567744.1_Missense_Mutation_p.D213H|VWA9_ENST00000569491.1_Missense_Mutation_p.D128H|VWA9_ENST00000431261.2_Missense_Mutation_p.D98H|VWA9_ENST00000420799.2_Missense_Mutation_p.D120H|VWA9_ENST00000442903.3_Missense_Mutation_p.D141H|VWA9_ENST00000313182.2_Missense_Mutation_p.D177H					von Willebrand factor A domain containing 9									p.D177H(1)									TTGTTTAAATCTATGAGACGT	0.418000													11	123					0	0	0.093190	0	0
ASXL2	55252	broad.mit.edu	37	2	25990452	25990452	+	Splice_Site	SNP	T	T	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:25990452T>A	ENST00000435504.4	-	8	1068	c.775A>T	c.(775-777)Aga>Tga	p.R259*	ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Splice_Site_p.R231*|ASXL2_ENST00000404843.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.R259*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAACTTACTGGTATGGAGT	0.373000													28	73					0	0	0.108266	0	0
KLHL11	55175	broad.mit.edu	37	17	40011443	40011443	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40011443C>G	ENST00000319121.3	-	2	736	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	226	BACK.					extracellular region		p.D226H(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGTATCATATCAGCAGCCTTC	0.383000													44	162					0	0	0.048971	0	0
PMPCA	23203	broad.mit.edu	37	9	139313052	139313052	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:139313052G>A	ENST00000371717.3	+	9	1045	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	PMPCA_ENST00000399219.3_Missense_Mutation_p.G215R|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	346					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.G346R(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GATGATGGGCGGAGGTGGCTC	0.602000													3	45					0	0	0.014758	0	0
AKR1C4	1109	broad.mit.edu	37	10	5248277	5248277	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:5248277A>T	ENST00000380448.1	+	7	740	c.487A>T	c.(487-489)Atc>Ttc	p.I163F	AKR1C4_ENST00000263126.1_Missense_Mutation_p.I163F			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	163					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	p.I163F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GGCCAAGTCCATCGGGGTGTC	0.507000													11	126					0	0	0.069234	0	0
SPTB	6710	broad.mit.edu	37	14	65234536	65234536	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:65234536C>G	ENST00000389722.3	-	29	6117	c.6064G>C	c.(6064-6066)Gag>Cag	p.E2022Q	SPTB_ENST00000542895.1_Missense_Mutation_p.E2022Q|SPTB_ENST00000389721.5_Missense_Mutation_p.E2022Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E2022Q|SPTB_ENST00000556626.1_Missense_Mutation_p.E2022Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	2022					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.E2022Q(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCCACGCCTCAGCCACAGAG	0.607000													8	29					0	0	0.047766	0	0
ZNF441	126068	broad.mit.edu	37	19	11891441	11891441	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:11891441C>G	ENST00000357901.4	+	4	904	c.802C>G	c.(802-804)Caa>Gaa	p.Q268E	ZNF441_ENST00000454339.2_Missense_Mutation_p.Q201E	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q201E(1)|p.Q268E(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTTACACTCAACTATATGA	0.383000													4	117					0	0	0.009096	0	0
HNF4G	3174	broad.mit.edu	37	8	76471126	76471126	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:76471126A>G	ENST00000396423.2	+	8	1071	c.947A>G	c.(946-948)tAt>tGt	p.Y316C	HNF4G_ENST00000354370.1_Missense_Mutation_p.Y279C	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	279					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Y279C(1)|p.Y316C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GATCGGCAGTATGACTCCCGG	0.453000													35	89					0	0	0.059317	0	0
C2orf53	339779	broad.mit.edu	37	2	27360613	27360613	+	Silent	SNP	G	G	A	rs137967723	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27360613G>A	ENST00000335524.3	-	3	1110	c.585C>T	c.(583-585)tgC>tgT	p.C195C		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	195								p.C195C(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTTGGCACGCATCTCTCCA	0.657000													10	51					0	0	0.080935	0	0
PSMG1	8624	broad.mit.edu	37	21	40547542	40547542	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:40547542C>G	ENST00000331573.3	-	7	1306	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	PSMG1_ENST00000380900.2_Missense_Mutation_p.E260Q	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	281					proteasome assembly	endoplasmic reticulum	protein binding	p.E281Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				CTCTGAATCTCATTTGTTGTC	0.368000											OREG0026220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	84					0	0	0.014758	0	0
STK31	56164	broad.mit.edu	37	7	23810677	23810677	+	Silent	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:23810677G>T	ENST00000354639.3	+	14	2162	c.1698G>T	c.(1696-1698)ctG>ctT	p.L566L	STK31_ENST00000433467.2_Silent_p.L589L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.L589L|STK31_ENST00000428484.1_Silent_p.L566L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	589							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.L589L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTCAAGTACTGCAAAAGATTC	0.338000													62	140					2.3441e-25	2.56682e-25	0.048971	1	0
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P4P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741000													3	24					0	0	0.004672	0	0
STAB1	23166	broad.mit.edu	37	3	52547984	52547984	+	Missense_Mutation	SNP	G	G	T	rs149300853		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:52547984G>T	ENST00000321725.6	+	32	3510	c.3434G>T	c.(3433-3435)cGg>cTg	p.R1145L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1145	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1145L(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCCTCTTCCGGGAATTGCTG	0.652000													11	171					1.49906e-05	1.58139e-05	0.020292	1	0
VN1R4	317703	broad.mit.edu	37	19	53770061	53770061	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:53770061C>G	ENST00000311170.4	-	1	911	c.858G>C	c.(856-858)atG>atC	p.M286I		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	286					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.M286I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGTCACAGCTCATGAGAACAA	0.393000										HNSCC(26;0.072)			5	82					0	0	0.014758	0	0
NUP153	9972	broad.mit.edu	37	6	17669713	17669713	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:17669713G>T	ENST00000262077.2	-	6	916	c.917C>A	c.(916-918)tCa>tAa	p.S306*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.S306*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	306					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.S306*(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CCGAGCTGTTGAACTGGTCAC	0.373000													4	115					0.00024832	0.000260172	0.009096	1	0
CARD16	114769	broad.mit.edu	37	11	104915124	104915124	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:104915124G>A	ENST00000375706.2	-	2	286	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CARD16_ENST00000525374.1_Missense_Mutation_p.S90L|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.S90L|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.S90L(2)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CTTACCTGCTGAGAGTCCCAG	0.453000													50	138					0	0	0.048971	0	0
PARPBP	55010	broad.mit.edu	37	12	102572447	102572447	+	Silent	SNP	C	C	T	rs146074209	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:102572447C>T	ENST00000327680.2	+	9	1303	c.840C>T	c.(838-840)gaC>gaT	p.D280D	PARPBP_ENST00000541394.1_Silent_p.D438D|PARPBP_ENST00000358383.5_Silent_p.D361D|PARPBP_ENST00000392911.2_Silent_p.D280D|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	361					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.D361D(1)|p.D280D(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTCTTTTGGACGAAGAAGCAG	0.368000													4	87					0	0	0.014758	0	0
MYH2	4620	broad.mit.edu	37	17	10432249	10432249	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:10432249C>T	ENST00000245503.5	-	27	3886	c.3502G>A	c.(3502-3504)Gag>Aag	p.E1168K	MYH2_ENST00000397183.2_Missense_Mutation_p.E1168K|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1168					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1168K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGTTCATCTCAATCTGGGCT	0.612000													10	106					0	0	0.105934	0	0
FMN1	342184	broad.mit.edu	37	15	33359049	33359049	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:33359049G>C	ENST00000334528.9	-	1	1036	c.1037C>G	c.(1036-1038)tCt>tGt	p.S346C	FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.S346C	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	440	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.S346C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAGCAGCAGAGAGAGCTGCTC	0.557000													10	98					0	0	0.080935	0	0
FBN2	2201	broad.mit.edu	37	5	127609548	127609548	+	Silent	SNP	G	G	A	rs28763922	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:127609548G>A	ENST00000508053.1	-	67	8798	c.7824C>T	c.(7822-7824)acC>acT	p.T2608T	FBN2_ENST00000262464.4_Silent_p.T2608T			P35556	FBN2_HUMAN	fibrillin 2	2608	EGF-like 44; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.T2608T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTCAGTCCGGTGGCATCAA	0.393000													4	66					0	0	0.014758	0	0
SAMD4B	55095	broad.mit.edu	37	19	39868169	39868169	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:39868169G>A	ENST00000314471.6	+	10	2184	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	SAMD4B_ENST00000598913.1_Silent_p.L383L|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	383							protein binding	p.L383L(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGCAGGAGCTGCAGCAGATCA	0.627000													5	75					0	0	0.021553	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	136					0	0	0.029380	0	0
VAT1L	57687	broad.mit.edu	37	16	77859262	77859262	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:77859262C>T	ENST00000302536.2	+	3	636	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	161							oxidoreductase activity|zinc ion binding	p.F161F(2)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTGCTGCATTCCCCATGAACT	0.537000													4	39					0	0	0.009096	0	0
PRPF19	27339	broad.mit.edu	37	11	60671325	60671325	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:60671325C>T	ENST00000227524.4	-	2	233	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	10	U-box.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.E10K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TCCGGCACTTCGTTAGAGACT	0.507000													18	99					0	0	0.049695	0	0
LCK	3932	broad.mit.edu	37	1	32742252	32742252	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:32742252C>A	ENST00000333070.4	+	9	929	c.829C>A	c.(829-831)Cag>Aag	p.Q277K	LCK_ENST00000373564.3_Missense_Mutation_p.Q284K|LCK_ENST00000336890.5_Missense_Mutation_p.Q277K	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	277	Protein kinase.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	p.Q284K(1)|p.Q277K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GAGCCTGAAGCAGGGCAGCAT	0.637000			T	TRB@	T-ALL								16	58					2.23348e-06	2.38895e-06	0.028581	1	0
RAB7A	7879	broad.mit.edu	37	3	128516892	128516892	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:128516892G>C	ENST00000265062.3	+	3	406	c.160G>C	c.(160-162)Gac>Cac	p.D54H	RAB7A_ENST00000482525.1_Missense_Mutation_p.D54H|RAB7A_ENST00000485280.1_Missense_Mutation_p.D54H	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	54					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	p.D54H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		GATGGTGGATGACAGGCTAGT	0.428000													3	140					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215963529	215963529	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:215963529C>T	ENST00000366943.2	-	51	10440	c.10054G>A	c.(10054-10056)Gac>Aac	p.D3352N	USH2A_ENST00000307340.3_Missense_Mutation_p.D3352N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3352					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D3352N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGCACCGGGTCATTCTTTTTA	0.403000										HNSCC(13;0.011)			8	170					0	0	0.038147	0	0
HMCN1	83872	broad.mit.edu	37	1	186088322	186088322	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:186088322G>A	ENST00000271588.4	+	78	12077		c.e78-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCATTTTTAGGAGCAATTGA	0.373000													36	109					0	0	0.059317	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439547	150439547	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150439547C>G	ENST00000358647.3	+	3	687	c.320C>G	c.(319-321)tCt>tGt	p.S107C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5									p.S107C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTGCTCTCTGCCCCGGGG	0.582000													11	88					0	0	0.069234	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940613	52940613	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940613G>T	ENST00000371544.3	-	13	2880	c.2618C>A	c.(2617-2619)tCt>tAt	p.S873Y	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S873Y|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	873					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.S873Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCAGTTGCAAGAGGTAGCAGA	0.413000													10	72					1.58986e-06	1.70448e-06	0.069234	1	0
STX16	8675	broad.mit.edu	37	20	57251299	57251299	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:57251299C>T	ENST00000371141.4	+	9	1654	c.930C>T	c.(928-930)gtC>gtT	p.V310V	STX16_ENST00000355957.5_Silent_p.V293V|STX16_ENST00000371132.4_Silent_p.V289V|STX16_ENST00000361770.5_Silent_p.V293V|STX16_ENST00000361830.3_Silent_p.V310V|STX16_ENST00000358029.4_Silent_p.V306V|STX16_ENST00000359617.4_Silent_p.V257V|STX16-NPEPL1_ENST00000530122.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	310					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	p.V289V(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TATTATTTGTCATCATCATTG	0.448000													21	185					0	0	0.076483	0	0
FLNB	2317	broad.mit.edu	37	3	57994493	57994493	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:57994493C>G	ENST00000357272.4	+	1	367	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	FLNB_ENST00000429972.2_Missense_Mutation_p.Q68E|FLNB_ENST00000358537.3_Missense_Mutation_p.Q68E|FLNB_ENST00000295956.4_Missense_Mutation_p.Q68E|FLNB_ENST00000348383.5_Missense_Mutation_p.Q68E|FLNB_ENST00000490882.1_Missense_Mutation_p.Q68E			O75369	FLNB_HUMAN	filamin B, beta	68	Actin-binding.|CH 1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.Q68E(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAAGTACCATCAGCGGCCCAC	0.617000													5	124					0	0	0.021553	0	0
PUM2	23369	broad.mit.edu	37	2	20478508	20478508	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:20478508G>C	ENST00000361078.2	-	12	1815	c.1793C>G	c.(1792-1794)tCt>tGt	p.S598C	PUM2_ENST00000536417.1_Missense_Mutation_p.S542C|PUM2_ENST00000319801.5_Intron|PUM2_ENST00000403432.1_Missense_Mutation_p.S598C|PUM2_ENST00000338086.5_Missense_Mutation_p.S598C			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	598	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.S598C(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTACTAGATCTTTTGTA	0.438000													4	225					0	0	0.009096	0	0
LAMB3	3914	broad.mit.edu	37	1	209823311	209823311	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:209823311C>G	ENST00000391911.1	-	2	570	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	LAMB3_ENST00000367030.3_Missense_Mutation_p.E61Q|LAMB3_ENST00000356082.4_Missense_Mutation_p.E61Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	61	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.E61Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGGCCTACCTCGCCATACTGG	0.567000													3	55					0	0	0.004672	0	0
GOLGB1	2804	broad.mit.edu	37	3	121412961	121412961	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:121412961C>G	ENST00000393667.3	-	13	6519	c.6409G>C	c.(6409-6411)Gag>Cag	p.E2137Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2132Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2132					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E2132Q(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGTGCTTCTCTTCTGCCTGT	0.398000													72	577					0	0	0.048971	0	0
DNER	92737	broad.mit.edu	37	2	230312236	230312236	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:230312236C>T	ENST00000341772.4	-	8	1416	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	428	EGF-like 5.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.E428K(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACCTTTTCTTCACAAGCAGAT	0.483000													4	31					0	0	0.009096	0	0
MGA	23269	broad.mit.edu	37	15	41961828	41961828	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:41961828C>G	ENST00000219905.7	+	2	917	c.736C>G	c.(736-738)Cag>Gag	p.Q246E	MGA_ENST00000545763.1_Missense_Mutation_p.Q246E|MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Missense_Mutation_p.Q246E|MGA_ENST00000389936.4_Missense_Mutation_p.Q246E|MGA_ENST00000570161.1_Missense_Mutation_p.Q246E	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	246						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q246E(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCAGATTACTCAGCTGAAAAT	0.418000													30	32					0	0	0.034045	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634783	6634783	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:6634783G>A	ENST00000333172.6	+	3	784	c.591G>A	c.(589-591)gaG>gaA	p.E197E	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Silent_p.E197E	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	197					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.E197E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACCAGGTGGAGACCATGGTGC	0.587000													9	40					0	0	0.047766	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535087	110535087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:110535087C>T	ENST00000378402.5	+	75	12402	c.12298C>T	c.(12298-12300)Cag>Tag	p.Q4100*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4100					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.Q4104*(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCATTTCCTCAGCAGCCTTC	0.458000										HNSCC(38;0.096)			6	13					0	0	0.029380	0	0
BRCA2	675	broad.mit.edu	37	13	32914961	32914961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr13:32914961C>T	ENST00000544455.1	+	11	6696	c.6469C>T	c.(6469-6471)Caa>Taa	p.Q2157*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2157*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2157					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.Q2157*(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATATCTCTCTCAATTTCAACA	0.318000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			21	52					0	0	0.049695	0	0
UGCG	7357	broad.mit.edu	37	9	114691868	114691868	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:114691868G>A	ENST00000374279.3	+	6	1097	c.647G>A	c.(646-648)aGa>aAa	p.R216K	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	216					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	p.R216K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGTTTAATGAGAAAAGATGTG	0.393000													65	79					0	0	0.048971	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599168	136599168	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:136599168T>C	ENST00000531224.1	-	4	1103	c.851A>G	c.(850-852)tAc>tGc	p.Y284C	BCLAF1_ENST00000530767.1_Missense_Mutation_p.Y284C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Y282C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Y284C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Y282C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Y282C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	284					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.Y284C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAAGGACTGTATCGACTAGA	0.453000													9	86					0	0	0.047766	0	0
CELA3A	10136	broad.mit.edu	37	1	22336318	22336318	+	Missense_Mutation	SNP	C	C	G	rs148724731		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:22336318C>G	ENST00000290122.3	+	7	782	c.763C>G	c.(763-765)Cga>Gga	p.R255G		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A									p.R255G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTGTTCACTCGAGTCTCCGC	0.592000													11	55					0	0	0.093190	0	0
PRPF8	10594	broad.mit.edu	37	17	1582371	1582371	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:1582371G>A	ENST00000572621.1	-	10	1804	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L	PRPF8_ENST00000304992.6_Silent_p.L513L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	513						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.L513L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCAGGTAGTTGAGGTTTTTGC	0.542000													26	83					0	0	0.030593	0	0
EDC4	23644	broad.mit.edu	37	16	67909846	67909846	+	Splice_Site	SNP	A	A	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr16:67909846A>T	ENST00000358933.5	+	2	321		c.e2-1			NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTTGTCCCCAGGCCCCAGTG	0.557000													46	120					0	0	0.042209	0	0
IL27RA	9466	broad.mit.edu	37	19	14157122	14157122	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:14157122C>T	ENST00000263379.2	+	7	1050	c.925C>T	c.(925-927)Ctc>Ttc	p.L309F		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	309					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.L309F(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGGGAGCCTCTCACCAACCT	0.597000													4	209					0	0	0.014758	0	0
PARL	55486	broad.mit.edu	37	3	183585733	183585733	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:183585733G>T	ENST00000317096.4	-	2	301	c.241C>A	c.(241-243)Cct>Act	p.P81T	PARL_ENST00000435888.1_Missense_Mutation_p.P81T|PARL_ENST00000311101.5_Missense_Mutation_p.P81T	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	81					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.P81T(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCCACAGGAGGAATCAAAGCA	0.423000													7	236					0.0293803	0.0300985	0.029380	1	0
FST	10468	broad.mit.edu	37	5	52778823	52778823	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:52778823G>C	ENST00000396947.3	+	2	365	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	FST_ENST00000256759.3_Missense_Mutation_p.E67Q	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	67	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.E67Q(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTCGTGGACCGAGGAGGACGT	0.587000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	28					0	0	0.038147	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262231	39262231	+	Silent	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:39262231C>A	ENST00000391415.1	+	1	648	c.591C>A	c.(589-591)tcC>tcA	p.S197S		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	197						keratin filament		p.S185S(1)|p.S197S(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GTGTCATCTCCAGCTGCCCCC	0.632000													6	4					2.74318e-10	2.97554e-10	0.058154	1	0
SEC14L2	23541	broad.mit.edu	37	22	30806616	30806616	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:30806616C>G	ENST00000312932.9	+	8	872	c.612C>G	c.(610-612)ctC>ctG	p.L204L	SEC14L2_ENST00000403484.1_Silent_p.L130L|SEC14L2_ENST00000402592.3_Silent_p.L121L|RP4-539M6.19_ENST00000439838.1_Silent_p.L38L|SEC14L2_ENST00000405717.3_Silent_p.L204L	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	204	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	p.L204L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CCTATAACCTCATCAAACCCT	0.527000													3	133					0	0	0.009096	0	0
MLIP	90523	broad.mit.edu	37	6	54025594	54025594	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:54025594C>G	ENST00000514921.1	+	8	2576	c.2463C>G	c.(2461-2463)gtC>gtG	p.V821V	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000502396.1_Silent_p.V832V|MLIP_ENST00000370877.2_Silent_p.V193V|MLIP_ENST00000274897.5_Silent_p.V297V|MLIP_ENST00000358276.5_Intron	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	297						nuclear envelope|PML body	protein binding	p.V297V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CTGACACAGTCAAAGTATGTA	0.328000													7	85					0	0	0.047766	0	0
DPPA4	55211	broad.mit.edu	37	3	109050829	109050829	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:109050829C>T	ENST00000335658.6	-	3	282	c.228G>A	c.(226-228)caG>caA	p.Q76Q	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	76						nucleus	protein binding	p.Q76Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GTATCTTCTTCTGAGGTCTGG	0.458000													35	228					0	0	0.069456	0	0
PLEC	5339	broad.mit.edu	37	8	145013596	145013596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:145013596C>A	ENST00000345136.3	-	1	162	c.34G>T	c.(34-36)Gag>Tag	p.E12*	PLEC_ENST00000357649.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000398774.2_Intron	NM_201384.1	NP_958786.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E12*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCAGGCCCTCGGGCTGCGGC	0.687000													8	17					1.12685e-05	1.1942e-05	0.047766	1	0
CNOT6L	246175	broad.mit.edu	37	4	78663304	78663304	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:78663304T>C	ENST00000504123.1	-	8	993	c.863A>G	c.(862-864)aAa>aGa	p.K288R	CNOT6L_ENST00000264903.4_Missense_Mutation_p.K288R			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	288					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	p.K317R(1)|p.K288R(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CTTTTCTGTTTTGAAGAATAT	0.338000													6	31					0	0	0.029380	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141483	143141483	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:143141483C>T	ENST00000332690.1	+	1	938	c.938C>T	c.(937-939)tCa>tTa	p.S313L	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	313					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.S313L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CGTCGTTCCTCAAGGTGTGGG	0.502000													10	118					0	0	0.080935	0	0
BAG3	9531	broad.mit.edu	37	10	121431904	121431904	+	Silent	SNP	C	C	T	rs138078305	byFrequency	TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:121431904C>T	ENST00000369085.3	+	3	951	c.645C>T	c.(643-645)aaC>aaT	p.N215N		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	215					anti-apoptosis|apoptosis|protein folding	cytosol		p.N215N(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ACGAGCAGAACGTTACCCGGC	0.652000													22	70					0	0	0.055883	0	0
SND1	27044	broad.mit.edu	37	7	127341354	127341354	+	Nonsense_Mutation	SNP	C	C	G	rs34667910		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:127341354C>G	ENST00000354725.3	+	5	760	c.566C>G	c.(565-567)tCa>tGa	p.S189*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	189					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.S189*(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTTGTGGACTCACACCACCAG	0.483000													6	73					0	0	0.021553	0	0
ACOX2	8309	broad.mit.edu	37	3	58508267	58508267	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:58508267C>T	ENST00000302819.5	-	12	1879	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.E516K	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	530					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	p.E530K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TTCCAAGCCTCGTGCTGGTCA	0.532000													23	75					0	0	0.108266	0	0
NOC2L	26155	broad.mit.edu	37	1	880485	880485	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:880485C>T	ENST00000327044.6	-	18	2144	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	699	Asp/Glu-rich (acidic).					nucleolus	protein binding	p.D699N(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		tcctcttcatcgtcttccacc	0.607000													9	13					0	0	0.069234	0	0
SPATA16	83893	broad.mit.edu	37	3	172643146	172643146	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:172643146C>G	ENST00000351008.3	-	7	1401	c.1218G>C	c.(1216-1218)ccG>ccC	p.P406P		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	406					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.P406P(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGTGAATATCGGCAGCTTCC	0.373000													3	92					0	0	0.004672	0	0
CENPA	1058	broad.mit.edu	37	2	27016087	27016087	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27016087C>G	ENST00000335756.4	+	4	563	c.363C>G	c.(361-363)ctC>ctG	p.L121L	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Silent_p.L95L	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	121	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	p.L121L(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTTACTCTCTTCCCAAAGG	0.542000													56	310					0	0	0.048971	0	0
MMP27	64066	broad.mit.edu	37	11	102564639	102564639	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:102564639C>G	ENST00000260229.4	-	8	1282	c.1191G>C	c.(1189-1191)tgG>tgC	p.W397C		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	397	Hemopexin-like 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.W397C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		AAACTTACCTCCAGCACCAAA	0.353000													4	169					0	0	0.014758	0	0
SYTL5	94122	broad.mit.edu	37	X	37955435	37955435	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:37955435C>T	ENST00000357972.5	+	9	1556	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	SYTL5_ENST00000297875.2_Missense_Mutation_p.S337L|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.S337L			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	337					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.S337L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ACAGAAGACTCAGAGGATACT	0.418000													11	57					0	0	0.080935	0	0
NUTM1	256646	broad.mit.edu	37	15	34649515	34649515	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:34649515G>A	ENST00000537011.1	+	8	3688	c.3306G>A	c.(3304-3306)aaG>aaA	p.K1102K	NUTM1_ENST00000438749.3_Silent_p.K1092K|NUTM1_ENST00000333756.4_Silent_p.K1074K	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1									p.K1074K(1)									AGTCTGGGAAGCGAGCTCTAG	0.587000													4	55					0	0	0.009096	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164562	12164562	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:12164562C>T	ENST00000263932.2	+	4	617	c.395C>T	c.(394-396)cCg>cTg	p.P132L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P21L	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	132					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		p.P132L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGTCTGTCCGGCAGGGATG	0.577000													9	21					0	0	0.069234	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52940833	52940833	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52940833G>T	ENST00000371544.3	-	13	2660	c.2398C>A	c.(2398-2400)Ctt>Att	p.L800I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L800I|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	800					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	p.L800I(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTGGTAGAAAGAGATGAAGAG	0.363000													13	218					0.000308642	0.000322639	0.024245	1	0
ALOX5	240	broad.mit.edu	37	10	45907638	45907638	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:45907638G>A	ENST00000374391.2	+	4	484		c.e4-1		ALOX5_ENST00000542434.1_Splice_Site	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase						hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.?(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTCATGCTCAGATGGATGGAG	0.512000													23	66					0	0	0.062417	0	0
CHD4	1108	broad.mit.edu	37	12	6680126	6680126	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr12:6680126C>T	ENST00000309577.6	-	38	5877	c.5714G>A	c.(5713-5715)cGa>cAa	p.R1905Q	CHD4_ENST00000544484.1_Missense_Mutation_p.R1902Q|CHD4_ENST00000357008.2_Missense_Mutation_p.R1877Q|CHD4_ENST00000544040.1_Missense_Mutation_p.R1870Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1877	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.R1905Q(2)|p.R1877Q(2)		central_nervous_system(2)	2						TGGGGGAATTCGGGCAATGGT	0.537000													54	333					0	0	0.048971	0	0
EOGT	285203	broad.mit.edu	37	3	69027583	69027583	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:69027583G>A	ENST00000383701.3	-	17	2080	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	EOGT_ENST00000295571.5_Silent_p.Y362Y|EOGT_ENST00000540955.1_Silent_p.Y170Y|EOGT_ENST00000540764.1_Silent_p.Y345Y	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase									p.Y362Y(1)									CTTCACAGTTGTACCTAAGGA	0.453000													12	138					0	0	0.080935	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560932	32560932	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:32560932C>G	ENST00000345122.3	+	2	1372	c.1057C>G	c.(1057-1059)Cta>Gta	p.L353V	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.L353V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.L353V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.L353V|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	353					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.L353V(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTGCCAAATCTAGAAGAGAT	0.323000													18	173					0	0	0.033300	0	0
OR6K6	128371	broad.mit.edu	37	1	158724630	158724630	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:158724630C>G	ENST00000368144.2	+	1	121	c.25C>G	c.(25-27)Caa>Gaa	p.Q9E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q9E(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AGTGGGTAATCAACATTCCAA	0.393000													21	128					0	0	0.055883	0	0
CHAT	1103	broad.mit.edu	37	10	50857602	50857602	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:50857602C>T	ENST00000395562.2	+	11	1654	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	CHAT_ENST00000337653.2_Silent_p.L477L|CHAT_ENST00000339797.1_Silent_p.L359L|CHAT_ENST00000351556.3_Silent_p.L359L|CHAT_ENST00000395559.2_Silent_p.L359L|CHAT_ENST00000455728.2_Silent_p.L359L	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	477					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.L477L(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCAGCGAGCTCCCCGCCCCCC	0.617000													4	69					0	0	0.009096	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683215	140683215	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:140683215G>A	ENST00000239451.4	-	1	397	c.218C>T	c.(217-219)gCc>gTc	p.A73V		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	73					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.A73V(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGCGACGTAGGCCATAAGTGC	0.572000													5	78					0	0	0.014758	0	0
VCPKMT	79609	broad.mit.edu	37	14	50583166	50583166	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:50583166G>A	ENST00000395860.2	-	1	109	c.105C>T	c.(103-105)tcC>tcT	p.S35S	VCPKMT_ENST00000395859.2_Silent_p.S35S	NM_024558.2	NP_078834.2			valosin containing protein lysine (K) methyltransferase	35								p.S35S(1)									CCACGCCACCGGAGCTATACT	0.602000													5	18					0	0	0.014758	0	0
KAT2A	2648	broad.mit.edu	37	17	40271680	40271680	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:40271680C>G	ENST00000225916.5	-	5	809	c.756G>C	c.(754-756)caG>caC	p.Q252H		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	252					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.Q252H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGAACATCGTCTGCCGCTCCC	0.547000													19	63					0	0	0.062417	0	0
DOCK11	139818	broad.mit.edu	37	X	117788597	117788597	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chrX:117788597G>C	ENST00000276204.6	+	43	4802	c.4728G>C	c.(4726-4728)ttG>ttC	p.L1576F	DOCK11_ENST00000276202.7_Missense_Mutation_p.L1576F			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1576	DHR-2.				blood coagulation	cytosol	GTP binding	p.L1576F(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAAAGACTTGACCAAGAGAA	0.423000													25	50					0	0	0.099896	0	0
PTPRC	5788	broad.mit.edu	37	1	198701513	198701513	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:198701513C>T	ENST00000367376.2	+	19	2224	c.2053C>T	c.(2053-2055)Ctt>Ttt	p.L685F	PTPRC_ENST00000442510.2_Missense_Mutation_p.L687F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L526F|PTPRC_ENST00000352140.3_Missense_Mutation_p.L637F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L524F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	685	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.L685F(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGTTGACATTCTTCCTTGTGA	0.358000													6	72					0	0	0.021553	0	0
LRRN1	57633	broad.mit.edu	37	3	3886816	3886816	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:3886816C>T	ENST00000319331.3	+	2	1252	c.491C>T	c.(490-492)gCa>gTa	p.A164V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	164						integral to membrane		p.A164V(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATGCTTTTGCAGGCTTAAAA	0.393000													5	232					0	0	0.021553	0	0
NARF	26502	broad.mit.edu	37	17	80439027	80439027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:80439027C>T	ENST00000309794.11	+	7	907	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	NARF_ENST00000457415.3_Nonsense_Mutation_p.Q283*|NARF_ENST00000412079.2_Nonsense_Mutation_p.Q109*|NARF_ENST00000345415.7_Nonsense_Mutation_p.Q189*|NARF_ENST00000390006.4_Nonsense_Mutation_p.Q178*	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding	p.Q237*(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGGCTCTTCAGGAAAGCCT	0.577000													13	182					0	0	0.093190	0	0
ESCO2	157570	broad.mit.edu	37	8	27645505	27645505	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:27645505G>C	ENST00000305188.8	+	6	1355	c.1117G>C	c.(1117-1119)Gac>Cac	p.D373H	ESCO2_ENST00000397418.2_Missense_Mutation_p.D21H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	373					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.D373H(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AAAAACAAAAGACCAGCTCAT	0.383000									SC Phocomelia syndrome				13	107					0	0	0.093190	0	0
ADCK3	56997	broad.mit.edu	37	1	227171276	227171276	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:227171276C>G	ENST00000366779.1	+	14	3875	c.1104C>G	c.(1102-1104)atC>atG	p.I368M	ADCK3_ENST00000366778.1_Missense_Mutation_p.I316M|ADCK3_ENST00000366777.3_Missense_Mutation_p.I368M|ADCK3_ENST00000458507.2_Missense_Mutation_p.I89M|ADCK3_ENST00000433743.2_Missense_Mutation_p.I42M|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	368	Protein kinase.				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.I368M(1)|p.I89M(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCCAGAGCATCAACAGTGATG	0.622000													6	73					0	0	0.021553	0	0
LPIN1	23175	broad.mit.edu	37	2	11911647	11911647	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:11911647G>A	ENST00000256720.2	+	4	531	c.438G>A	c.(436-438)ccG>ccA	p.P146P	LPIN1_ENST00000396099.1_Silent_p.P152P|LPIN1_ENST00000425416.2_Silent_p.P152P|LPIN1_ENST00000396098.1_Silent_p.P152P|LPIN1_ENST00000449576.2_Silent_p.P195P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	146					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.P146P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCGAGACGCCGTCAAGCAGCT	0.537000													14	23					0	0	0.028581	0	0
ANXA11	311	broad.mit.edu	37	10	81929059	81929059	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:81929059C>T	ENST00000438331.1	-	6	709	c.227G>A	c.(226-228)gGg>gAg	p.G76E	ANXA11_ENST00000422982.3_Missense_Mutation_p.G76E|ANXA11_ENST00000265447.4_Missense_Mutation_p.G76E|ANXA11_ENST00000537102.1_Missense_Mutation_p.G43E|ANXA11_ENST00000535999.1_Missense_Mutation_p.G76E|ANXA11_ENST00000372231.3_Missense_Mutation_p.G76E|ANXA11_ENST00000360615.4_Missense_Mutation_p.G76E	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	76					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	p.G76E(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CCCAGGGGCCCCAGGGTACAG	0.652000													5	13					0	0	0.021553	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280503	32280503	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:32280503C>G	ENST00000360482.2	-	2	561	c.432G>C	c.(430-432)gaG>gaC	p.E144D	SPOCD1_ENST00000373648.2_Missense_Mutation_p.E144D|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000533231.1_Missense_Mutation_p.E144D	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	144					transcription, DNA-dependent			p.E144D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCAGAGCTCTCTCTGGGAGGC	0.592000													36	92					0	0	0.048971	0	0
BAZ1A	11177	broad.mit.edu	37	14	35228028	35228028	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:35228028C>T	ENST00000360310.1	-	25	4835	c.4268G>A	c.(4267-4269)cGa>cAa	p.R1423Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1391Q|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R1423Q	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1423					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.R1423fs*21(1)|p.R1423Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AGAACTCCTTCGACCCAGTGT	0.408000													7	73					0	0	0.029380	0	0
RNF213	57674	broad.mit.edu	37	17	78343329	78343329	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:78343329C>T	ENST00000582970.1	+	45	12326	c.12183C>T	c.(12181-12183)ttC>ttT	p.F4061F	RNF213_ENST00000508628.2_Silent_p.F4110F|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.F2134F	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.F2134F(1)|p.F4110F(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGCCCGCTTCCGGCAGATGT	0.493000													62	177					0	0	0.048971	0	0
POC5	134359	broad.mit.edu	37	5	74970317	74970317	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:74970317G>C	ENST00000428202.2	-	12	1860	c.1671C>G	c.(1669-1671)acC>acG	p.T557T	POC5_ENST00000514838.2_Silent_p.T529T|POC5_ENST00000510798.1_Silent_p.T381T|POC5_ENST00000380475.2_Silent_p.T381T|POC5_ENST00000446329.2_Silent_p.T532T	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	557					cell cycle	centriole		p.T531T(1)|p.T557T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGCTGATCTGGTTCCAAGTG	0.433000													43	185					0	0	0.104719	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74307742	74307742	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:74307742G>A	ENST00000446526.3	-	10	1484	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	PRPSAP1_ENST00000324684.4_Silent_p.L244L|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	318					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	p.L318L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GGACATTGCAGCTTCTGAACC	0.453000													19	102					0	0	0.049695	0	0
OPRK1	4986	broad.mit.edu	37	8	54147422	54147422	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:54147422G>A	ENST00000265572.3	-	3	804	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Silent_p.F80F|OPRK1_ENST00000520287.1_Silent_p.F169F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	169					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.F169F(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGGGTGTGCGGAAGTCCAAAG	0.512000													5	89					0	0	0.014758	0	0
TENM3	55714	broad.mit.edu	37	4	183675804	183675804	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:183675804G>C	ENST00000511685.1	+	22	4407	c.4284G>C	c.(4282-4284)cgG>cgC	p.R1428R	TENM3_ENST00000406950.2_Silent_p.R1428R|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3									p.R1428R(1)									AAATTAACCGGATAAGGCAGG	0.478000													3	36					0	0	0.004672	0	0
KATNAL2	83473	broad.mit.edu	37	18	44589673	44589673	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:44589673C>T	ENST00000245121.5	+	7	645	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	KATNAL2_ENST00000356157.7_Silent_p.L223L|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	223						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.L151L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GCTGAAACCTCTGAGTGCATT	0.468000													4	61					0	0	0.009096	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705108	52705108	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:52705108C>T	ENST00000287727.3	+	4	2191	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	ZFYVE9_ENST00000357206.2_Silent_p.L673L|ZFYVE9_ENST00000371591.1_Silent_p.L673L			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	673					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.L673L(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATAATGATCTCAGAGCTGGTC	0.468000													21	126					0	0	0.076483	0	0
TBC1D31	93594	broad.mit.edu	37	8	124095030	124095030	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr8:124095030G>C	ENST00000287380.1	+	3	403	c.313G>C	c.(313-315)Gat>Cat	p.D105H	TBC1D31_ENST00000522420.1_Intron|TBC1D31_ENST00000327098.5_Missense_Mutation_p.D105H|TBC1D31_ENST00000521676.1_Intron|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.D105H	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.D105H(1)									GGCATTAGCTGATTATTCTAT	0.348000													4	99					0	0	0.009096	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439620	150439620	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr7:150439620C>G	ENST00000358647.3	+	3	760	c.393C>G	c.(391-393)atC>atG	p.I131M	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5									p.I131M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTGGCCATCAGGAAGGTGA	0.592000													9	120					0	0	0.047766	0	0
WDHD1	11169	broad.mit.edu	37	14	55467688	55467688	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:55467688G>A	ENST00000360586.3	-	9	781	c.716C>T	c.(715-717)tCt>tTt	p.S239F	WDHD1_ENST00000420358.2_Missense_Mutation_p.S116F|WDHD1_ENST00000421192.1_Missense_Mutation_p.S116F	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	239						cytoplasm|nucleoplasm	DNA binding	p.S239F(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CCCACAGGGAGACCAGGTTAC	0.308000													21	166					0	0	0.049695	0	0
SUPT7L	9913	broad.mit.edu	37	2	27884232	27884232	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr2:27884232G>A	ENST00000337768.5	-	3	607	c.38C>T	c.(37-39)tCa>tTa	p.S13L	SUPT7L_ENST00000464789.2_Missense_Mutation_p.S11L|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000405491.1_Missense_Mutation_p.S11L|SUPT7L_ENST00000406540.1_Missense_Mutation_p.S11L	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	13					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.S13L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CTGGCTTGATGATATTGGTAT	0.448000													9	102					0	0	0.058154	0	0
FBLIM1	54751	broad.mit.edu	37	1	16111108	16111108	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:16111108C>G	ENST00000375766.3	+	9	1714	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	FBLIM1_ENST00000509138.1_3'UTR|FBLIM1_ENST00000400773.1_Silent_p.L261L|FBLIM1_ENST00000375771.1_Silent_p.L358L|FBLIM1_ENST00000332305.5_Silent_p.L261L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	358	LIM zinc-binding 3.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.L358L(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		ACAACCATCTCTTCTGCAAGC	0.637000													6	75					0	0	0.029380	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559494	44559494	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:44559494C>T	ENST00000332567.4	-	1	2494	c.2142G>A	c.(2140-2142)ctG>ctA	p.L714L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	714					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.L714L(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTGCTGCTCAGGCAGGGGT	0.647000													20	55					0	0	0.069288	0	0
G3BP1	10146	broad.mit.edu	37	5	151169904	151169904	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:151169904C>T	ENST00000394123.3	+	3	261	c.116C>T	c.(115-117)tCt>tTt	p.S39F	G3BP1_ENST00000356245.3_Missense_Mutation_p.S39F|G3BP1_ENST00000543466.1_5'UTR			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	39	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.S39F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAGAACTCTTCTTATGTCCAT	0.368000													5	50					0	0	0.014758	0	0
MPDZ	8777	broad.mit.edu	37	9	13113048	13113048	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:13113048A>G	ENST00000319217.7	-	42	5810	c.5563T>C	c.(5563-5565)Tct>Cct	p.S1855P	MPDZ_ENST00000381022.2_Missense_Mutation_p.S1826P|MPDZ_ENST00000538841.1_Missense_Mutation_p.S714P|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1793P|MPDZ_ENST00000381015.4_Missense_Mutation_p.S1855P|MPDZ_ENST00000546205.1_Missense_Mutation_p.S1869P|MPDZ_ENST00000447879.1_Missense_Mutation_p.S1822P|MPDZ_ENST00000541718.1_Missense_Mutation_p.S1826P|MPDZ_ENST00000541093.1_Missense_Mutation_p.S89P	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1855					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.S1826P(1)|p.S1827P(1)		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)		TGTATTTCAGATGCCACTGTA	0.323000													2	11					0	0	0.004672	0	0
COL20A1	57642	broad.mit.edu	37	20	61944555	61944555	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:61944555C>T	ENST00000422202.1	+	16	2252	c.2184C>T	c.(2182-2184)taC>taT	p.Y728Y	COL20A1_ENST00000326996.6_Silent_p.Y721Y|COL20A1_ENST00000435874.1_Silent_p.Y728Y|COL20A1_ENST00000358894.6_Silent_p.Y721Y			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	721	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity	p.Y721Y(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGGCCTACTACAGGGACGGGG	0.657000													3	32					0	0	0.009096	0	0
RGS6	9628	broad.mit.edu	37	14	72985157	72985157	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:72985157C>G	ENST00000553530.1	+	15	1397	c.1190C>G	c.(1189-1191)cCa>cGa	p.P397R	RGS6_ENST00000553525.1_Missense_Mutation_p.P397R|RGS6_ENST00000355512.6_Missense_Mutation_p.P397R|RGS6_ENST00000404301.2_Missense_Mutation_p.P397R|RGS6_ENST00000406236.4_Missense_Mutation_p.P397R|RGS6_ENST00000555571.1_Missense_Mutation_p.P397R|RGS6_ENST00000402788.2_Missense_Mutation_p.P397R|RGS6_ENST00000554782.1_Missense_Mutation_p.P258R|RGS6_ENST00000407322.4_Missense_Mutation_p.P397R|RGS6_ENST00000556437.1_Missense_Mutation_p.P397R|RGS6_ENST00000343854.6_Missense_Mutation_p.P360R|RGS6_ENST00000434263.2_Missense_Mutation_p.P328R	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	397	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.P397R(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCAGGGGCTCCAAGTGCAATC	0.468000													9	59					0	0	0.069234	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781390	128781390	+	Silent	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:128781390G>C	ENST00000529694.1	+	2	598	c.222G>C	c.(220-222)ctG>ctC	p.L74L	KCNJ5_ENST00000338350.4_Silent_p.L74L|KCNJ5_ENST00000533599.1_Silent_p.L74L	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	74					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L74L(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACCGGTACCTGAGTGACCTCT	0.577000													4	134					0	0	0.021553	0	0
GRXCR2	643226	broad.mit.edu	37	5	145239353	145239353	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:145239353C>T	ENST00000377976.1	-	3	689	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	230								p.L230L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CAGGGCACCTCAGGGCCCGAT	0.547000													7	66					0	0	0.029380	0	0
CCDC34	91057	broad.mit.edu	37	11	27384539	27384539	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:27384539G>C	ENST00000317945.6	-	1	242	c.203C>G	c.(202-204)tCt>tGt	p.S68C	CCDC34_ENST00000328697.6_Missense_Mutation_p.S68C	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	68								p.S68C(2)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GCCAAGGGGAGACAACAGCGA	0.637000													7	95					0	0	0.029380	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32917399	32917399	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:32917399C>A	ENST00000361627.3	+	5	1392	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.Q35K|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.Q35K|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.Q224K|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.Q224K	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	224	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.Q224K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GCTACGATTACAGGCTGCAGT	0.363000													53	68					5.82388e-19	6.34707e-19	0.048971	1	0
BCLAF1	9774	broad.mit.edu	37	6	136589449	136589449	+	Missense_Mutation	SNP	G	G	C	rs147719127		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:136589449G>C	ENST00000531224.1	-	10	2500	c.2248C>G	c.(2248-2250)Cga>Gga	p.R750G	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R577G|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R748G|BCLAF1_ENST00000031135.9_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R750G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R748G|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R748G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	750	Poly-Ser.				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R750G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GATGAAGATCGAGAATGATCT	0.338000													5	111					0	0	0.014758	0	0
DHX29	54505	broad.mit.edu	37	5	54579455	54579455	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:54579455C>G	ENST00000251636.5	-	11	1689	c.1541G>C	c.(1540-1542)aGa>aCa	p.R514T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	514							ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.R514T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AGAGTTTTCTCTCTTATTTTC	0.378000													21	165					0	0	0.055883	0	0
SLC35B1	10237	broad.mit.edu	37	17	47780327	47780327	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:47780327G>C	ENST00000240333.6	-	8	930	c.809C>G	c.(808-810)tCc>tGc	p.S270C	SLC35B1_ENST00000415270.2_Missense_Mutation_p.S307C			P78383	S35B1_HUMAN	solute carrier family 35, member B1	270						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	p.S270C(1)		endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGTGATGATGGAGCAGGTCAG	0.502000													8	127					0	0	0.047766	0	0
INSR	3643	broad.mit.edu	37	19	7174599	7174599	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:7174599C>T	ENST00000341500.5	-	4	1157	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	INSR_ENST00000302850.5_Missense_Mutation_p.G373E	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	373					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.G373E(2)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTCACTGCCTCCTCGAATGTT	0.602000													9	49					0	0	0.047766	0	0
BMP3	651	broad.mit.edu	37	4	81967324	81967324	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr4:81967324C>T	ENST00000282701.2	+	2	1069	c.749C>T	c.(748-750)tCt>tTt	p.S250F		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	250					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.S250F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCCGCCATTTCTGAGCCAGAA	0.473000													15	114					0	0	0.028581	0	0
OBP2A	29991	broad.mit.edu	37	9	138439763	138439763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr9:138439763C>T	ENST00000342114.4	+	3	232	c.190C>T	c.(190-192)Cga>Tga	p.R64*	OBP2A_ENST00000371776.1_Silent_p.D108D|OBP2A_ENST00000539850.1_Silent_p.D108D|OBP2A_ENST00000340780.3_Silent_p.D108D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	73					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.D108D(3)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCGGGACGGACGACTACGTCT	0.612000													3	21					0	0	0.004672	0	0
RIN3	79890	broad.mit.edu	37	14	93081784	93081784	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:93081784G>C	ENST00000216487.7	+	4	559	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	134	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.E134Q(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCTTGTGTTTGAGGACATCTT	0.522000													11	189					0	0	0.105934	0	0
ATXN7	6314	broad.mit.edu	37	3	63938123	63938123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:63938123C>T	ENST00000398590.3	+	5	1016	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q155*|ATXN7_ENST00000295900.6_Nonsense_Mutation_p.Q155*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q155*	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	155					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.Q155*(4)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGACTGTAATCAGGTTGTCAA	0.373000													14	175					0	0	0.020292	0	0
POLK	51426	broad.mit.edu	37	5	74869692	74869692	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:74869692G>C	ENST00000241436.4	+	5	710	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	POLK_ENST00000508526.1_Missense_Mutation_p.E180Q|POLK_ENST00000504026.1_Missense_Mutation_p.E180Q|POLK_ENST00000380481.3_Missense_Mutation_p.E90Q|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Missense_Mutation_p.E180Q|POLK_ENST00000515295.1_Missense_Mutation_p.E180Q	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	180	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.E180Q(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGTGAGTAAAGAGGTAAGTTA	0.458000								DNA polymerases (catalytic subunits)					4	69					0	0	0.009096	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24503595	24503595	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr6:24503595C>T	ENST00000357578.3	+	3	688	c.543C>T	c.(541-543)acC>acT	p.T181T	ALDH5A1_ENST00000546278.1_Silent_p.T93T|ALDH5A1_ENST00000491546.1_Silent_p.T153T|ALDH5A1_ENST00000348925.2_Silent_p.T181T	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	181					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.T181T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TTATCCACACCCCGGCAAAGG	0.572000													3	35					0	0	0.080935	0	0
SHANK2	22941	broad.mit.edu	37	11	70319029	70319029	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr11:70319029C>T	ENST00000338508.4	-	33	5497	c.5498G>A	c.(5497-5499)cGa>cAa	p.R1833Q	SHANK2_ENST00000409161.1_Missense_Mutation_p.R1236Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R1237Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R1453Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1453					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.R1237Q(1)|p.R1833Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTGCCCGACTCGAGTTACCCC	0.488000													74	180					0	0	0.048971	0	0
ELP2	55250	broad.mit.edu	37	18	33738801	33738801	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:33738801G>T	ENST00000358232.6	+	14	1531	c.1468G>T	c.(1468-1470)Gat>Tat	p.D490Y	ELP2_ENST00000542824.1_Missense_Mutation_p.D420Y|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.D485Y|ELP2_ENST00000442325.2_Missense_Mutation_p.D555Y|ELP2_ENST00000423854.2_Missense_Mutation_p.D420Y|ELP2_ENST00000351393.6_Missense_Mutation_p.D464Y	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	490					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		p.D490Y(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATTCTAGCAAGATAGTGATCT	0.308000													20	75					1.28384e-07	1.38283e-07	0.062417	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36230213	36230213	+	Splice_Site	SNP	C	C	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr14:36230213C>A	ENST00000258840.6	-	6	760		c.e6-1		RALGAPA1_ENST00000382366.3_Splice_Site|RALGAPA1_ENST00000389698.3_Splice_Site|RALGAPA1_ENST00000307138.6_Splice_Site	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.?(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCGCCTAATCTAAAATAAAA	0.323000													5	35					0.000602214	0.000628101	0.014758	1	0
AHCTF1	25909	broad.mit.edu	37	1	247053281	247053281	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:247053281C>G	ENST00000366508.1	-	17	2372	c.2236G>C	c.(2236-2238)Gag>Cag	p.E746Q	AHCTF1_ENST00000326225.3_Missense_Mutation_p.E720Q|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E711Q|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	711	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.E711Q(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATAAACGCTCAAACTTCTGT	0.338000													19	221					0	0	0.062417	0	0
UTP18	51096	broad.mit.edu	37	17	49374347	49374347	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:49374347C>G	ENST00000225298.7	+	13	1725	c.1668C>G	c.(1666-1668)ttC>ttG	p.F556L		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	556				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus		p.F556L(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ACTCAGACTTCTAAAGAGACT	0.373000													16	167					0	0	0.024245	0	0
FGD5	152273	broad.mit.edu	37	3	14861786	14861786	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:14861786G>C	ENST00000285046.5	+	1	1318	c.1208G>C	c.(1207-1209)gGa>gCa	p.G403A	FGD5_ENST00000543601.1_Missense_Mutation_p.G162A	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	403			G -> R (in dbSNP:rs7636593).		actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.G162A(1)|p.G403A(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTACAGGGTGGAGCGGCCGAG	0.632000													3	27					0	0	0.004672	0	0
POLG	5428	broad.mit.edu	37	15	89873444	89873444	+	Silent	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:89873444C>T	ENST00000268124.5	-	3	1056	c.723G>A	c.(721-723)ccG>ccA	p.P241P	POLG_ENST00000442287.2_Silent_p.P241P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	241					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.P241P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGAGGTCAGCCGGCGACAGCT	0.617000								DNA polymerases (catalytic subunits)					10	47					0	0	0.058154	0	0
COL7A1	1294	broad.mit.edu	37	3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr3:48609570C>T	ENST00000328333.8	-	90	7120	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2306Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2338	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2338Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGCGGCCCTGG	0.612000													7	30					0	0	0.047766	0	0
COG2	22796	broad.mit.edu	37	1	230795210	230795210	+	Splice_Site	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:230795210G>A	ENST00000366669.4	+	2	188	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	COG2_ENST00000535166.1_5'UTR|COG2_ENST00000534989.1_5'UTR|COG2_ENST00000366668.3_Splice_Site_p.E25K	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	25					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	p.E25K(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTTTTCAGGAAGATTTCGA	0.378000													10	103					0	0	0.058154	0	0
CLK3	1198	broad.mit.edu	37	15	74912488	74912488	+	Silent	SNP	G	G	A			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr15:74912488G>A	ENST00000395066.3	+	3	1196	c.735G>A	c.(733-735)gaG>gaA	p.E245E	CLK3_ENST00000345005.4_Silent_p.E97E|CLK3_ENST00000352989.5_Silent_p.E97E|CLK3_ENST00000348245.3_Silent_p.E97E	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	245	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E245E(1)|p.E97E(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GATCGCGGGAGAGGGGGCCAT	0.617000													51	75					0	0	0.048971	0	0
WDR70	55100	broad.mit.edu	37	5	37703084	37703084	+	Silent	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr5:37703084C>G	ENST00000265107.4	+	13	1467	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	437								p.L437L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGATAAGCTCATAGTCACTG	0.413000													8	130					0	0	0.038147	0	0
DSCAM	1826	broad.mit.edu	37	21	41427661	41427661	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:41427661C>G	ENST00000400454.1	-	29	5503	c.5026G>C	c.(5026-5028)Gag>Cag	p.E1676Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1676					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1676Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAATGGTCTCCATCGTGTCT	0.493000													20	68					0	0	0.049695	0	0
FMO3	2328	broad.mit.edu	37	1	171083188	171083188	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr1:171083188C>T	ENST00000367755.4	+	7	980	c.869C>T	c.(868-870)gCa>gTa	p.A290V	FMO3_ENST00000538429.1_Missense_Mutation_p.A227V|FMO3_ENST00000392085.2_Missense_Mutation_p.A290V|FMO3_ENST00000542847.1_Missense_Mutation_p.A270V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	290					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.A290V(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGCTCCCAGCAAGCATTCTG	0.433000													26	61					0	0	0.108266	0	0
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2																						GCTTTTGGGGAAAAAAAAAAG	0.542													2	4	---	---	---	---					
GRN	2896	broad.mit.edu	37	17	42427695	42427696	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:42427695_42427696insCC	ENST00000053867.3	+	5	511_512	c.449_450insCC	c.(448-453)tgccccfs	p.CP150fs	GRN_ENST00000589265.1_Frame_Shift_Ins_p.CP150fs	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	150					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGGGTGCTGCCCCATGCCCC	0.619													12	223	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433													6	13	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr18:112402_112405delAACC	ENST00000608049.1	+	0	389					NR_033770.1																						CCCTGCCCCGAACCACCCGACCCC	0.711													6	9	---	---	---	---					
MADCAM1	8174	broad.mit.edu	37	19	504758	504758	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr19:504758delG	ENST00000587541.1	+	3	1139	c.285delG	c.(283-285)gcgfs	p.A95fs	MADCAM1_ENST00000215637.3_Frame_Shift_Del_p.A314fs|MADCAM1_ENST00000382683.4_Frame_Shift_Del_p.A132fs|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Frame_Shift_Del_p.A227fs			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	314	Ig-like 1.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAACCTGCGGGTGACCAGC	0.672													15	113	---	---	---	---					
PCK1	5105	broad.mit.edu	37	20	56136548	56136549	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr20:56136548_56136549insC	ENST00000319441.4	+	2	245_246	c.81_82insC	c.(82-84)aggfs	p.R28fs	PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	28					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCCAGGCAGTGAGGGAGTTTCT	0.569													15	215	---	---	---	---					
CRYZL1	9946	broad.mit.edu	37	21	34994348	34994349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr21:34994348_34994349insT	ENST00000361534.2	-	5	381_382	c.242_243insA	c.(241-243)aagfs	p.K81fs	CRYZL1_ENST00000290244.5_Frame_Shift_Ins_p.K57fs|CRYZL1_ENST00000381540.3_Frame_Shift_Ins_p.K57fs|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000413017.2_Frame_Shift_Ins_p.K57fs|CRYZL1_ENST00000445393.1_Frame_Shift_Ins_p.K57fs|CRYZL1_ENST00000381554.3_Frame_Shift_Ins_p.K57fs			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	57					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GAAATAAATCCTTTTTCATCTT	0.327													31	230	---	---	---	---					
NAGA	4668	broad.mit.edu	37	22	42463826	42463827	+	In_Frame_Ins	INS	-	-	CAACTGGCATCGCGA			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:42463826_42463827insCAACTGGCATCGCGA	ENST00000396398.3	-	3	798_799	c.266_267insTCGCGATGCCAGTTG	c.(265-267)ggc>ggTCGCGATGCCAGTTGc	p.89_90insRDASC	NAGA_ENST00000403363.1_In_Frame_Ins_p.89_90insRDASC|NAGA_ENST00000402937.1_In_Frame_Ins_p.89_90insRDASC	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	89					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCATCAGGCGGCCACTGGCATC	0.614													8	185	---	---	---	---					
RRP7BP	91695	broad.mit.edu	37	22	42970861	42970862	+	RNA	DEL	GC	GC	-			TCGA-CF-A1HR-01A-11D-A13W-08	TCGA-CF-A1HR-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69acf4f1-063f-453d-b148-681518c0bc39	62d52ca4-cd68-4a07-87fb-57e5f2c09538	g.chr22:42970861_42970862delGC	ENST00000357802.2	-	0	784																											GGGTCAGACAGCGCGCCCCGGG	0.673													6	11	---	---	---	---