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
ZNF721	170960	broad.mit.edu	37	4	437398	437398	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:437398A>G	ENST00000338977.5	-	2	870	c.822T>C	c.(820-822)ttT>ttC	p.F274F	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Silent_p.F286F					zinc finger protein 721									p.F286F(1)|p.F56F(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGGAAATATTAAAGGCTTTAC	0.393000													13	67					0	0	0.016723	0	0
TM7SF3	51768	broad.mit.edu	37	12	27128447	27128447	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:27128447C>T	ENST00000343028.4	-	11	1657	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	478						integral to membrane|plasma membrane		p.V478M(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGAAAAGGCACATTTGTGAAA	0.433000													21	56					0	0	0.008871	0	0
SKP1	6500	broad.mit.edu	37	5	133502893	133502893	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:133502893G>C	ENST00000353411.6	-	3	322	c.139C>G	c.(139-141)Cta>Gta	p.L47V	SKP1_ENST00000522855.1_Missense_Mutation_p.L47V|SKP1_ENST00000522552.1_Missense_Mutation_p.L47V|SKP1_ENST00000521216.1_Missense_Mutation_p.L47V|SKP1_ENST00000517625.1_Missense_Mutation_p.L47V	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L47V(1)		large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATTTGGTAGAGGAACTGGG	0.303000													29	48					0	0	0.010818	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160266332	160266332	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:160266332G>T	ENST00000264431.4	+	18	3289	c.2870G>T	c.(2869-2871)cGt>cTt	p.R957L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	957					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.R945L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAGCGGGTACGTCGTAGTTCC	0.443000													98	108					8.84886e-50	1.13502e-49	0.014410	1	0
NEK10	152110	broad.mit.edu	37	3	27204078	27204078	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:27204078C>T	ENST00000429845.2	-	32	3246	c.2884G>A	c.(2884-2886)Gac>Aac	p.D962N	NEK10_ENST00000383771.4_Missense_Mutation_p.D274N|NEK10_ENST00000295720.6_Missense_Mutation_p.D274N|NEK10_ENST00000498182.1_Intron|NEK10_ENST00000383770.3_Intron|NEK10_ENST00000357467.2_Missense_Mutation_p.D359N			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	962							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D962N(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAAGCAGGTCAAGAGGCAGC	0.433000													6	56					0	0	0.021553	0	0
NEK10	152110	broad.mit.edu	37	3	27152782	27152782	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:27152782T>C	ENST00000429845.2	-	39	3862	c.3500A>G	c.(3499-3501)aAt>aGt	p.N1167S	NEK10_ENST00000383771.4_Missense_Mutation_p.N469S|NEK10_ENST00000295720.6_Missense_Mutation_p.N479S|NEK10_ENST00000383770.3_Missense_Mutation_p.N422S			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	1167							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N1120I(1)|p.N1167S(1)|p.N1120S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGTTGGGTGATTCTTGGTCCC	0.368000													5	54					0	0	0.014758	0	0
FUCA1	2517	broad.mit.edu	37	1	24194554	24194554	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:24194554C>G	ENST00000374479.3	-	1	230	c.223G>C	c.(223-225)Gag>Cag	p.E75Q		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	75					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	p.E75Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAGAACCACTCGCTGCCCCAG	0.687000													5	21					0	0	0.021553	0	0
CCND1	595	broad.mit.edu	37	11	69458699	69458699	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:69458699G>A	ENST00000227507.2	+	3	741	c.514G>A	c.(514-516)Gag>Aag	p.E172K	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	172					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.E172K(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCCAGAGGCGGAGGAGAACAA	0.592000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			26	36					0	0	0.021523	0	0
MYEF2	50804	broad.mit.edu	37	15	48446077	48446077	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:48446077G>A	ENST00000324324.7	-	10	1278	c.999C>T	c.(997-999)ggC>ggT	p.G333G	MYEF2_ENST00000267836.6_Silent_p.G333G	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	333	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	p.G333V(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CCATCCCAATGCCTCCAAGAC	0.388000													4	23					0	0	0.001984	0	0
SDS	10993	broad.mit.edu	37	12	113830941	113830941	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:113830941G>T	ENST00000257549.4	-	8	914	c.792C>A	c.(790-792)atC>atA	p.I264I		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	264					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	p.I264I(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTCCACCAGGATCTTCTCAT	0.632000													36	72					3.66082e-28	4.62534e-28	0.023175	1	0
SELE	6401	broad.mit.edu	37	1	169697307	169697307	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:169697307C>G	ENST00000333360.7	-	8	1310	c.1171G>C	c.(1171-1173)Ggg>Cgg	p.G391R	SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.G391R|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367775.1_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.G391R|SELE_ENST00000367776.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	391	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.G391R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CAGCTGGACCCATAACGGAAA	0.532000													29	143					0	0	0.009535	0	0
STX16	8675	broad.mit.edu	37	20	57243142	57243142	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr20:57243142G>A	ENST00000371141.4	+	4	1076	c.352G>A	c.(352-354)Gag>Aag	p.E118K	STX16_ENST00000359617.4_Missense_Mutation_p.E65K|STX16_ENST00000361830.3_Missense_Mutation_p.E118K|STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.E118K|STX16_ENST00000371132.4_Missense_Mutation_p.E97K|STX16_ENST00000355957.5_Missense_Mutation_p.E101K|STX16_ENST00000358029.4_Missense_Mutation_p.E114K|STX16_ENST00000361770.5_Missense_Mutation_p.E101K|STX16_ENST00000496003.1_3'UTR	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	118					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.E97K(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)			CAGCAGCGAAGAGGAACATGC	0.483000													4	63					0	0	0.021553	0	0
MARCH4	57574	broad.mit.edu	37	2	217234653	217234653	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:217234653G>A	ENST00000273067.4	-	1	2097	c.331C>T	c.(331-333)Cca>Tca	p.P111S		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	111	Pro-rich.					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.P111S(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAAGGTGGCAAGGGGGGT	0.672000													7	15					0	0	0.003080	0	0
PPARG	5468	broad.mit.edu	37	3	12393098	12393098	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:12393098G>A	ENST00000287820.6	+	1	128	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	PPARG_ENST00000397012.2_Intron|PPARG_ENST00000309576.6_Intron|PPARG_ENST00000397026.2_Intron|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397015.2_Intron|PPARG_ENST00000397010.2_Intron|PPARG_ENST00000539812.1_Intron	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	3					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.E3K(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGTTATGGGTGAAACTCTGGG	0.393000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						24	39					0	0	0.014323	0	0
KCNT2	343450	broad.mit.edu	37	1	196309587	196309587	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:196309587G>T	ENST00000367433.5	-	16	1768	c.1667C>A	c.(1666-1668)aCc>aAc	p.T556N	KCNT2_ENST00000367431.4_Missense_Mutation_p.T506N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.T556N|KCNT2_ENST00000451324.2_Missense_Mutation_p.T167N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	556						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.T556N(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTCTTCTTTGGTAATATTAAT	0.358000													5	136					1.23904e-05	1.3546e-05	0.014758	1	0
SLC26A7	115111	broad.mit.edu	37	8	92378836	92378836	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:92378836C>T	ENST00000276609.3	+	14	1756	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	SLC26A7_ENST00000523719.1_Missense_Mutation_p.S506L|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.S506L	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	506	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.S506L(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAAATTATCTCAATAAACAAC	0.328000													13	51					0	0	0.016723	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135758848	135758848	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:135758848T>C	ENST00000250617.6	-	18	3085	c.1880A>G	c.(1879-1881)aAg>aGg	p.K627R	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.K500R|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.K473R|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.K473R	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	627					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.K627R(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAGAAATTTCTTCATCGTTTT	0.338000													10	33					0	0	0.010729	0	0
CNGA2	1260	broad.mit.edu	37	X	150911915	150911915	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:150911915G>A	ENST00000329903.4	+	6	973	c.940G>A	c.(940-942)Gac>Aac	p.D314N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	314					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.D314N(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AAACATCACTGACCCTGAGTA	0.493000													19	105					0	0	0.007413	0	0
RFX5	5993	broad.mit.edu	37	1	151314991	151314991	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:151314991C>T	ENST00000290524.4	-	11	1700	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	RFX5_ENST00000452513.2_Missense_Mutation_p.E468K|RFX5_ENST00000452671.2_Missense_Mutation_p.E508K|RFX5_ENST00000368870.2_Missense_Mutation_p.E508K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	508						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E508K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTGCCTTCCCCTCCTGAG	0.577000													72	210					0	0	0.014410	0	0
LRRC40	55631	broad.mit.edu	37	1	70611554	70611554	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:70611554G>T	ENST00000370952.3	-	15	1817	c.1738C>A	c.(1738-1740)Cct>Act	p.P580T		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	580								p.P580T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GCTGCTCGAGGAACTCGGAAT	0.348000													9	60					2.74318e-10	3.15428e-10	0.006214	1	0
MNDA	4332	broad.mit.edu	37	1	158815572	158815572	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158815572T>C	ENST00000368141.4	+	5	1027	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	256	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.L256L(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)					CGACATCAACTTGAAAGAGAA	0.363000													6	59					0	0	0.021553	0	0
DOCK2	1794	broad.mit.edu	37	5	169508967	169508967	+	Silent	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:169508967C>A	ENST00000256935.8	+	51	5489	c.5409C>A	c.(5407-5409)gtC>gtA	p.V1803V	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.V1295V|DOCK2_ENST00000540750.1_Silent_p.V864V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1803					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.V1803V(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGAAGGTCAATCAGTTCT	0.512000													18	66					1.96292e-10	2.26326e-10	0.010504	1	0
GFRAL	389400	broad.mit.edu	37	6	55264023	55264023	+	Missense_Mutation	SNP	G	G	C	rs137898068		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:55264023G>C	ENST00000340465.2	+	7	1084	c.998G>C	c.(997-999)aGa>aCa	p.R333T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	333						integral to membrane	receptor activity	p.R333T(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGTATACAAGAAAACATGCA	0.274000													7	30					0	0	0.003080	0	0
VCAM1	7412	broad.mit.edu	37	1	101186146	101186146	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:101186146G>A	ENST00000294728.2	+	2	280	c.179G>A	c.(178-180)aGa>aAa	p.R60K	VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000347652.2_Missense_Mutation_p.R60K|VCAM1_ENST00000370115.1_Missense_Mutation_p.R60K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	60	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.R60K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTCTTGGAGAACCCAGATA	0.478000													22	55					0	0	0.010504	0	0
RBM19	9904	broad.mit.edu	37	12	114397877	114397877	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:114397877G>A	ENST00000545145.2	-	3	404	c.326C>T	c.(325-327)cCa>cTa	p.P109L	RBM19_ENST00000261741.5_Missense_Mutation_p.P109L|RBM19_ENST00000392561.3_Missense_Mutation_p.P109L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	109					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.P109L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTTAATTTCTGGAGTAGTAGA	0.532000													30	87					0	0	0.009535	0	0
KLF6	1316	broad.mit.edu	37	10	3822298	3822298	+	Splice_Site	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:3822298C>A	ENST00000497571.1	-	3	1060	c.800_splice	c.e3+1	p.R267_splice	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	267					B cell differentiation	nucleus	zinc ion binding	p.R267M(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AGGCACGTACCTGTCACAGTG	0.552000													12	33					1.5842e-08	1.78752e-08	0.016723	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140719744	140719744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:140719744C>A	ENST00000394576.2	+	1	1206	c.1206C>A	c.(1204-1206)taC>taA	p.Y402*	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.Y402*(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATTACTACCGACTGGTTA	0.463000													34	57					2.42023e-17	2.90979e-17	0.015359	1	0
TESC	54997	broad.mit.edu	37	12	117513112	117513112	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:117513112C>A	ENST00000335209.7	-	2	278	c.92G>T	c.(91-93)aGa>aTa	p.R31I	TESC_ENST00000392545.4_Missense_Mutation_p.R84I|TESC_ENST00000541210.1_Missense_Mutation_p.R31I			Q96BS2	TESC_HUMAN	tescalcin	31					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	p.R84I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CTGCTTAAATCTCCGATGGAG	0.498000													29	70					3.76114e-14	4.44594e-14	0.019004	1	0
MITF	4286	broad.mit.edu	37	3	69987181	69987181	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:69987181A>C	ENST00000352241.4	+	3	726	c.563A>C	c.(562-564)aAc>aCc	p.N188T	MITF_ENST00000328528.6_Missense_Mutation_p.N187T|MITF_ENST00000314557.6_Missense_Mutation_p.N81T|MITF_ENST00000394351.3_Missense_Mutation_p.N81T|MITF_ENST00000314589.5_Missense_Mutation_p.N172T|MITF_ENST00000394355.2_Missense_Mutation_p.N163T|MITF_ENST00000472437.1_Missense_Mutation_p.N136T|MITF_ENST00000531774.1_Intron|MITF_ENST00000394348.1_3'UTR|MITF_ENST00000448226.2_Missense_Mutation_p.N188T	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	188					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.N188T(1)|p.N81T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTACGCTTAACTCCAACTGT	0.493000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						11	42					0	0	0.016723	0	0
CEP76	79959	broad.mit.edu	37	18	12695285	12695285	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:12695285G>C	ENST00000262127.2	-	6	997	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E	CEP76_ENST00000423709.2_Missense_Mutation_p.Q183E|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	258					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	p.Q258E(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATAACGTTTGATTGAGTGGT	0.299000													4	18					0	0	0.009096	0	0
MDC1	9656	broad.mit.edu	37	6	30672360	30672360	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:30672360C>A	ENST00000376406.3	-	10	5247	c.4600G>T	c.(4600-4602)Gcc>Tcc	p.A1534S	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A1270S	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1534	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.A1534S(1)		breast(2)|kidney(1)|ovary(1)	4						AGCTCAGGGGCTGCGGGCACA	0.587000								Other conserved DNA damage response genes					64	299					1.42676e-28	1.80809e-28	0.014410	1	0
GRM1	2911	broad.mit.edu	37	6	146720735	146720735	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:146720735G>A	ENST00000392299.2	+	8	3030	c.2560G>A	c.(2560-2562)Gat>Aat	p.D854N	GRM1_ENST00000282753.1_Missense_Mutation_p.D854N|GRM1_ENST00000507907.1_Missense_Mutation_p.D854N|GRM1_ENST00000355289.4_Missense_Mutation_p.D854N|GRM1_ENST00000492807.2_Missense_Mutation_p.D854N|GRM1_ENST00000361719.2_Missense_Mutation_p.D854N			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	854					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.D854N(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CACCACCTCTGATGTTGTCCG	0.532000													10	54					0	0	0.006214	0	0
OR1C1	26188	broad.mit.edu	37	1	247921160	247921160	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:247921160A>G	ENST00000408896.2	-	1	822	c.549T>C	c.(547-549)ccT>ccC	p.P183P		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTGCAGGAGAGGATTGAGAT	0.468000													13	36					0	0	0.028581	0	0
BAG5	9529	broad.mit.edu	37	14	104026973	104026973	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:104026973C>T	ENST00000445922.2	-	2	775	c.529G>A	c.(529-531)Gag>Aag	p.E177K	RP11-894P9.2_ENST00000556332.1_RNA|BAG5_ENST00000299204.4_Missense_Mutation_p.E177K|BAG5_ENST00000337322.4_Missense_Mutation_p.E218K	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	177					apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding	p.E177K(1)|p.E177*(1)		endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TGTGCATCCTCGGAAAGCGGC	0.493000													22	84					0	0	0.014323	0	0
LRP1B	53353	broad.mit.edu	37	2	141081555	141081555	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:141081555G>C	ENST00000389484.3	-	81	13392	c.12421C>G	c.(12421-12423)Caa>Gaa	p.Q4141E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4141					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q4141E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAAATTTTTGAACTCGAAAT	0.308000										TSP Lung(27;0.18)			31	137					0	0	0.009535	0	0
ZBED4	9889	broad.mit.edu	37	22	50277565	50277565	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:50277565G>A	ENST00000216268.4	+	2	732	c.255G>A	c.(253-255)gcG>gcA	p.A85A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	85						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	p.A85A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACTATGGCGCGCTGTTCTCCC	0.627000													21	112					0	0	0.012319	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762928	24762928	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:24762928C>G	ENST00000376451.2	+	2	1032	c.772C>G	c.(772-774)Cta>Gta	p.L258V	KIAA1217_ENST00000396446.1_Missense_Mutation_p.L258V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L540V|KIAA1217_ENST00000376454.3_Missense_Mutation_p.L540V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.L258V|KIAA1217_ENST00000430453.2_Missense_Mutation_p.L461V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.L258V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L460V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L540V			Q5T5P2	SKT_HUMAN	KIAA1217	540					embryonic skeletal system development	cytoplasm		p.L540V(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGGCCCTCCTCTAATGGAGAA	0.552000													5	76					0	0	0.001984	0	0
GRK1	6011	broad.mit.edu	37	13	114322111	114322111	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:114322111G>A	ENST00000335678.6	+	1	642	c.410G>A	c.(409-411)gGg>gAg	p.G137E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	137	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	p.G137E(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTTAAGGAGGGGCCTGTGGAG	0.637000													4	11					0	0	0.009096	0	0
EYA3	2140	broad.mit.edu	37	1	28384528	28384528	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:28384528C>G	ENST00000373871.3	-	2	250	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	EYA3_ENST00000373863.3_Missense_Mutation_p.E4Q|EYA3_ENST00000373864.1_5'UTR|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000545175.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.E4Q|EYA3_ENST00000471498.1_5'UTR			Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	4					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	p.E4Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAATCTTGCTCTTCTTCCATG	0.313000													21	203					0	0	0.024334	0	0
TBC1D32	221322	broad.mit.edu	37	6	121402010	121402010	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:121402010C>T	ENST00000275159.6	-	33	3803	c.3804G>A	c.(3802-3804)gtG>gtA	p.V1268V	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Silent_p.V1227V					TBC1 domain family, member 32									p.V1227V(1)									AATAATCACTCACTCGAAACC	0.358000													33	46					0	0	0.012213	0	0
DACT1	51339	broad.mit.edu	37	14	59105173	59105173	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:59105173C>T	ENST00000395153.3	+	1	400	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	DACT1_ENST00000335867.4_Missense_Mutation_p.R85C|DACT1_ENST00000395151.3_Intron|DACT1_ENST00000556859.1_Intron|DACT1_ENST00000555845.1_Intron	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	85					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.R85C(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						cgctgcgccccgcgcTGGGGA	0.701000													6	6					0	0	0.001984	0	0
DNAH8	1769	broad.mit.edu	37	6	38747797	38747797	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:38747797C>T	ENST00000359357.3	+	13	1698	c.1444C>T	c.(1444-1446)Cgt>Tgt	p.R482C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R699C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R482C					dynein, axonemal, heavy chain 8									p.R482C(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACAATAGAGCGTATTCTTCA	0.323000													4	55					0	0	0.021553	0	0
TELO2	9894	broad.mit.edu	37	16	1555456	1555456	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:1555456G>T	ENST00000262319.6	+	16	2167	c.1888G>T	c.(1888-1890)Ggg>Tgg	p.G630W	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	630						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	p.G630W(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGGGTGCCTCGGGAGGACTCC	0.677000													23	19					7.41877e-09	8.39336e-09	0.012319	1	0
NBPF10	100132406	broad.mit.edu	37	1	145302756	145302756	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:145302756C>T	ENST00000342960.5	+	8	1229	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	NBPF10_ENST00000369338.1_Silent_p.L127L|NBPF10_ENST00000369339.2_Silent_p.L127L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	398								p.L398L(1)|p.L127L(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGCATCTCCAGGCCCTCC	0.552000													12	344					0	0	0.013537	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149214257	149214257	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:149214257C>A	ENST00000309241.5	+	6	1758	c.1726C>A	c.(1726-1728)Ctg>Atg	p.L576M	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.L576M|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.L512M|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.L537M	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	576					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.L576M(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GTGCCTCATGCTGGCCTTGTC	0.433000											OREG0016922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	77					2.7689e-08	3.10764e-08	0.001984	1	0
NAV2	89797	broad.mit.edu	37	11	19970312	19970312	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:19970312G>T	ENST00000396085.1	+	10	2692	c.2331G>T	c.(2329-2331)agG>agT	p.R777S	NAV2_ENST00000360655.4_Missense_Mutation_p.R713S|NAV2_ENST00000540292.1_Missense_Mutation_p.R731S|NAV2_ENST00000349880.4_Missense_Mutation_p.R777S|NAV2_ENST00000527559.2_Missense_Mutation_p.R729S|NAV2_ENST00000396087.3_Missense_Mutation_p.R800S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	800						nucleus	ATP binding|helicase activity	p.R800S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGACAGGGAGGCCCACACCTC	0.572000													11	60					3.07112e-06	3.37503e-06	0.010729	1	0
DOCK7	85440	broad.mit.edu	37	1	63113915	63113915	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:63113915C>G	ENST00000251157.5	-	6	627	c.594G>C	c.(592-594)ttG>ttC	p.L198F	DOCK7_ENST00000340370.5_Missense_Mutation_p.L198F|DOCK7_ENST00000404627.2_Missense_Mutation_p.L198F	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	198					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.L198F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GTGAATTTTTCAAGTCAAAGA	0.383000													42	66					0	0	0.010771	0	0
CNPY2	10330	broad.mit.edu	37	12	56708678	56708678	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:56708678C>A	ENST00000273308.4	-	3	701	c.161G>T	c.(160-162)gGa>gTa	p.G54V	CNPY2_ENST00000551720.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.G54V	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	54	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding	p.G54V(1)		large_intestine(2)|lung(2)	4						CCGGAAAGATCCCATCTGAAT	0.507000													46	87					1.19451e-25	1.50025e-25	0.014410	1	0
OR2D2	120776	broad.mit.edu	37	11	6913260	6913260	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:6913260C>A	ENST00000299459.2	-	1	570	c.472G>T	c.(472-474)Gta>Tta	p.V158L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V158L(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGTGTCTACCACAGACACC	0.498000													19	51					1.67942e-08	1.8899e-08	0.006122	1	0
DUSP19	142679	broad.mit.edu	37	2	183943759	183943759	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:183943759A>G	ENST00000354221.4	+	1	273	c.98A>G	c.(97-99)gAa>gGa	p.E33G	DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Missense_Mutation_p.E33G	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	33					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity	p.E33G(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						AAAATTATAGAAACATGGAAA	0.453000													18	35					0	0	0.010504	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115640	220115640	+	Missense_Mutation	SNP	G	G	A	rs147946711		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:220115640G>A	ENST00000392088.2	-	4	1291	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	TUBA4A_ENST00000248437.4_Missense_Mutation_p.P261S|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	261					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.P261S(1)|p.P246S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAGGGTAGGGCACCAGGTTG	0.562000													42	64					0	0	0.011902	0	0
MCTP2	55784	broad.mit.edu	37	15	94858848	94858848	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:94858848G>T	ENST00000357742.4	+	3	619	c.619G>T	c.(619-621)Gtt>Ttt	p.V207F	MCTP2_ENST00000543482.1_Missense_Mutation_p.V207F|MCTP2_ENST00000451018.3_Missense_Mutation_p.V207F|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	207	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.V207F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCGGAACCTGGTTGTCCGAGA	0.527000													14	32					6.31663e-08	7.0519e-08	0.024245	1	0
ATP8A2	51761	broad.mit.edu	37	13	26043143	26043143	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:26043143G>A	ENST00000381655.2	+	2	247	c.105G>A	c.(103-105)aaG>aaA	p.K35K	ATP8A2_ENST00000255283.8_5'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K35K(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGGGCTATAAGAAGGCAGAGG	0.582000													9	76					0	0	0.004482	0	0
CDK9	1025	broad.mit.edu	37	9	130551617	130551617	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:130551617A>C	ENST00000373265.2	+	7	1265	c.1265A>C	c.(1264-1266)gAc>gCc	p.D422A	CDK9_ENST00000373264.4_Missense_Mutation_p.D305A			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	305					cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.D305A(1)		lung(1)	1						CAGCGCATCGACAGCGATGAC	0.607000													6	26					0	0	0.001984	0	0
USP28	57646	broad.mit.edu	37	11	113675628	113675628	+	Silent	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:113675628C>A	ENST00000003302.4	-	20	2609	c.2541G>T	c.(2539-2541)ctG>ctT	p.L847L	USP28_ENST00000544967.1_Silent_p.L523L|USP28_ENST00000545540.1_Silent_p.L690L|USP28_ENST00000260188.5_Silent_p.L815L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	847					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L847L(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAAACTGTTCCAGAAGGGTTC	0.448000													25	53					1.64293e-13	1.92588e-13	0.018920	1	0
THADA	63892	broad.mit.edu	37	2	43519314	43519314	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:43519314C>G	ENST00000405006.4	-	33	5217	c.4866G>C	c.(4864-4866)caG>caC	p.Q1622H	THADA_ENST00000415080.2_Missense_Mutation_p.Q1303H|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.Q1622H	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1622							binding	p.Q1622H(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)				AGTGCTCCGTCTGGGGAAGCC	0.478000													7	23					0	0	0.004482	0	0
MCM3AP	8888	broad.mit.edu	37	21	47663461	47663461	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:47663461C>T	ENST00000397708.1	-	25	5468	c.5214G>A	c.(5212-5214)gaG>gaA	p.E1738E	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.E1738E			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1738					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.E1738E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCCATGGGATCTCCATGACCG	0.562000													7	108					0	0	0.003080	0	0
EMCN	51705	broad.mit.edu	37	4	101331503	101331503	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:101331503G>C	ENST00000296420.4	-	11	939	c.761C>G	c.(760-762)tCt>tGt	p.S254C	EMCN_ENST00000305864.3_Missense_Mutation_p.S171C|EMCN_ENST00000511970.1_Missense_Mutation_p.S241C	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	254						extracellular region|integral to membrane|plasma membrane		p.S254C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TCCTTGTGCAGAGTGCTCACC	0.378000													14	120					0	0	0.028581	0	0
PHF14	9678	broad.mit.edu	37	7	11068332	11068332	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:11068332C>T	ENST00000403050.3	+	7	1794	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	PHF14_ENST00000445996.2_Missense_Mutation_p.R163C	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	448							zinc ion binding	p.R448C(1)		NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGAAGACCCTCGCTTTGCTAG	0.433000													8	56					0	0	0.004482	0	0
SLC9C2	284525	broad.mit.edu	37	1	173472449	173472449	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:173472449G>A	ENST00000367714.3	-	27	3749	c.3327C>T	c.(3325-3327)gtC>gtT	p.V1109V	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1109					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.V1109V(1)									GTTGTTCAAAGACCGTGTTGA	0.294000													16	60					0	0	0.028581	0	0
C15orf43	145645	broad.mit.edu	37	15	45270711	45270711	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:45270711A>G	ENST00000340827.3	+	7	565	c.548A>G	c.(547-549)aAg>aGg	p.K183R		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	183								p.K183R(1)		NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GATGCCATGAAGAAATTCCTT	0.294000													24	78					0	0	0.024334	0	0
LARP4B	23185	broad.mit.edu	37	10	875438	875438	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:875438C>T	ENST00000316157.3	-	10	1052	c.1012G>A	c.(1012-1014)Gcg>Acg	p.A338T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	338							nucleotide binding|RNA binding	p.A338T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AACGACGTCGCGTAGCGCTGC	0.532000													5	52					0	0	0.014758	0	0
DRAM1	55332	broad.mit.edu	37	12	102302092	102302092	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:102302092C>T	ENST00000258534.8	+	4	910	c.471C>T	c.(469-471)tgC>tgT	p.C157C	DRAM1_ENST00000544152.1_Intron	NM_018370.2	NP_060840.2	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	157					apoptosis|autophagy	integral to membrane|lysosomal membrane		p.C51C(1)|p.C157C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12						TCTCGACATGCCACATACGGA	0.483000													4	164					0	0	0.009096	0	0
TFDP3	51270	broad.mit.edu	37	X	132351956	132351956	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:132351956A>T	ENST00000310125.4	-	1	420	c.332T>A	c.(331-333)cTg>cAg	p.L111Q		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	111						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L51Q(1)|p.L111Q(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AAGACGGCACAGGCCCATGCC	0.592000													63	33					0	0	0.014410	0	0
OR5C1	392391	broad.mit.edu	37	9	125551304	125551304	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:125551304C>T	ENST00000373680.2	+	1	155	c.93C>T	c.(91-93)ctC>ctT	p.L31L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L31L(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GTGTGGCCCTCTTCCTGACCT	0.612000													26	55					0	0	0.024334	0	0
LUZP1	7798	broad.mit.edu	37	1	23418835	23418835	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000314174.5_Silent_p.P640P|LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468000													5	261					0	0	0.014758	0	0
FBXL18	80028	broad.mit.edu	37	7	5540616	5540616	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:5540616G>A	ENST00000382368.3	-	3	1407	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	FBXL18_ENST00000453700.3_Silent_p.S428S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	428								p.S428S(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		cgcgcggcgcggAGTCAGCGA	0.736000													5	15					0	0	0.021553	0	0
PSG7	5676	broad.mit.edu	37	19	43430044	43430044	+	RNA	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:43430044G>C	ENST00000446844.3	-	0	1213				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CTTTTGTCCTGATAGCTGAAA	0.463000													102	252					0	0	0.014410	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762918	24762918	+	Silent	SNP	C	C	T	rs34150424		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:24762918C>T	ENST00000376451.2	+	2	1022	c.762C>T	c.(760-762)ctC>ctT	p.L254L	KIAA1217_ENST00000396446.1_Silent_p.L254L|KIAA1217_ENST00000376452.3_Silent_p.L536L|KIAA1217_ENST00000376454.3_Silent_p.L536L|KIAA1217_ENST00000396445.1_Silent_p.L254L|KIAA1217_ENST00000430453.2_Silent_p.L457L|KIAA1217_ENST00000307544.6_Silent_p.L254L|KIAA1217_ENST00000376462.1_Silent_p.L456L|KIAA1217_ENST00000458595.1_Silent_p.L536L			Q5T5P2	SKT_HUMAN	KIAA1217	536					embryonic skeletal system development	cytoplasm		p.L536L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTGTAGACCTCGGCCCTCCTC	0.557000													7	78					0	0	0.004482	0	0
ZNF283	284349	broad.mit.edu	37	19	44351997	44351997	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:44351997G>T	ENST00000324461.7	+	7	1541	c.1244G>T	c.(1243-1245)gGa>gTa	p.G415V	ZNF283_ENST00000588797.1_Missense_Mutation_p.G276V	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G415V(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TTTAATTGCGGATCAAGTCTT	0.388000													45	104					1.7489e-18	2.13924e-18	0.011902	1	0
NDST3	9348	broad.mit.edu	37	4	118975516	118975516	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:118975516G>A	ENST00000296499.5	+	2	854	c.451G>A	c.(451-453)Gat>Aat	p.D151N	NDST3_ENST00000433996.2_Missense_Mutation_p.D151N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	151	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.D151N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGCCTTCTAGATAAATACTG	0.338000													8	52					0	0	0.006214	0	0
LPHN3	23284	broad.mit.edu	37	4	62599069	62599069	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:62599069A>T	ENST00000512091.1	+	7	1739	c.992A>T	c.(991-993)gAc>gTc	p.D331V	LPHN3_ENST00000514591.1_Missense_Mutation_p.D331V|LPHN3_ENST00000507164.1_Missense_Mutation_p.D399V|LPHN3_ENST00000506746.1_Missense_Mutation_p.D399V|LPHN3_ENST00000506700.1_Missense_Mutation_p.D331V|LPHN3_ENST00000511324.1_Missense_Mutation_p.D399V|LPHN3_ENST00000504896.1_Missense_Mutation_p.D331V|LPHN3_ENST00000508946.1_Missense_Mutation_p.D331V|LPHN3_ENST00000514157.1_Missense_Mutation_p.D331V|LPHN3_ENST00000514996.1_Missense_Mutation_p.D331V|LPHN3_ENST00000506720.1_Missense_Mutation_p.D399V|LPHN3_ENST00000545650.1_Missense_Mutation_p.D331V|LPHN3_ENST00000508693.1_Missense_Mutation_p.D399V|LPHN3_ENST00000507625.1_Missense_Mutation_p.D399V|LPHN3_ENST00000509896.1_Missense_Mutation_p.D399V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	331	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.D331V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGGATGATGACAATGAGGCT	0.378000													6	54					0	0	0.021553	0	0
CLCA4	22802	broad.mit.edu	37	1	87031004	87031004	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:87031004G>A	ENST00000370563.3	+	5	647	c.605G>A	c.(604-606)gGa>gAa	p.G202E	CLCA4_ENST00000263723.5_Intron	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	202						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.G202E(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAGTGTCAAGGAGGCAGCTGT	0.358000													4	87					0	0	0.009096	0	0
CIITA	4261	broad.mit.edu	37	16	10996625	10996625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:10996625G>T	ENST00000324288.8	+	8	872	c.739G>T	c.(739-741)Gga>Tga	p.G247*	CIITA_ENST00000381835.5_Nonsense_Mutation_p.G198*|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	247					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.G247*(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCTGAGGCTGGAACAGGGGT	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								26	45					1.85244e-09	2.10143e-09	0.018920	1	0
KHDRBS3	10656	broad.mit.edu	37	8	136554916	136554916	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:136554916T>G	ENST00000355849.5	+	3	637	c.227T>G	c.(226-228)cTt>cGt	p.L76R	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	76	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.L77fs*49(1)|p.L76R(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)			GTGGGGAAACTTTTGGGTCCA	0.373000													10	103					0	0	0.008291	0	0
RBBP6	5930	broad.mit.edu	37	16	24582309	24582309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:24582309G>T	ENST00000319715.4	+	18	4354	c.3922G>T	c.(3922-3924)Gaa>Taa	p.E1308*	RBBP6_ENST00000381039.3_Nonsense_Mutation_p.E468*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.E1274*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1308					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E1308*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGCGCCAGCTGAAGATGTTAT	0.378000													7	47					0.00198382	0.00213021	0.001984	1	0
SUN3	256979	broad.mit.edu	37	7	48035654	48035654	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:48035654C>T	ENST00000453192.2	-	8	874	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	SUN3_ENST00000297325.4_Missense_Mutation_p.E223K|SUN3_ENST00000395572.2_Missense_Mutation_p.E223K|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000412142.1_Missense_Mutation_p.E123K			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	223	SUN.					integral to membrane		p.E223K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGAGGCATTTCATGATTTAGG	0.284000													20	131					0	0	0.012319	0	0
OLIG3	167826	broad.mit.edu	37	6	137815158	137815158	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:137815158C>T	ENST00000367734.2	-	1	373	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.K50K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		CCCCGGGCATCTTCTGCATCA	0.612000													4	148					0	0	0.014758	0	0
BRINP3	339479	broad.mit.edu	37	1	190424018	190424018	+	Translation_Start_Site	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:190424018C>G	ENST00000367462.3	-	2	234	c.3G>C	c.(1-3)atG>atC	p.M1I	FAM5C_ENST00000534846.1_5'UTR|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		1						extracellular region		p.M1I(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTCGCCATATCATGCTTCCAC	0.463000													10	34					0	0	0.008291	0	0
LOC440040	440040	broad.mit.edu	37	11	49597836	49597836	+	RNA	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:49597836A>G	ENST00000527477.1	+	0	440																											TACTTTTGAAAGAAGATGTCC	0.478000													7	41					0	0	0.008291	0	0
PLA2R1	22925	broad.mit.edu	37	2	160884750	160884750	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:160884750G>A	ENST00000283243.7	-	6	1284	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y	PLA2R1_ENST00000392771.1_Missense_Mutation_p.H360Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	360					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.H360Y(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGATCAATGTGGTTTAGATAT	0.343000													8	105					0	0	0.004482	0	0
SCCPDH	51097	broad.mit.edu	37	1	246922379	246922379	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:246922379C>G	ENST00000366510.3	+	7	1115	c.739C>G	c.(739-741)Cct>Gct	p.P247A		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	247						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	p.P247A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TTATTCCATTCCTTTTATGGG	0.363000													41	172					0	0	0.011902	0	0
TTN	7273	broad.mit.edu	37	2	179438325	179438325	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179438325T>G	ENST00000589042.1	-	326	72758	c.72534A>C	c.(72532-72534)caA>caC	p.Q24178H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q15113H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q22537H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q21610H|TTN_ENST00000342175.6_Missense_Mutation_p.Q15305H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q15238H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22537	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q15113H(2)|p.Q15305H(1)|p.Q21608H(1)|p.Q15238H(1)|p.Q21610H(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)			GCTTTGTTACTTGGACTTCTG	0.423000													9	515					0	0	0.004482	0	0
GJD2	57369	broad.mit.edu	37	15	35044898	35044898	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:35044898C>G	ENST00000290374.4	-	2	1223	c.747G>C	c.(745-747)gaG>gaC	p.E249D		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	249					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.E249D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AGACAGTCTTCTCAGTTGGCC	0.493000													21	51					0	0	0.008871	0	0
OARD1	221443	broad.mit.edu	37	6	41036604	41036604	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:41036604C>T	ENST00000479950.1	-	5	645	c.332G>A	c.(331-333)gGa>gAa	p.G111E	OARD1_ENST00000480585.1_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.G111E|OARD1_ENST00000486443.1_Missense_Mutation_p.G72E|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000464633.1_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.G111E|OARD1_ENST00000468811.1_Missense_Mutation_p.G111E|OARD1_ENST00000482515.1_Intron					O-acyl-ADP-ribose deacylase 1									p.G111V(2)|p.G111E(1)									GTCAGTGACTCCATTCTTCAG	0.408000													9	63					0	0	0.006214	0	0
PRKDC	5591	broad.mit.edu	37	8	48805717	48805717	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:48805717C>G	ENST00000314191.2	-	32	3883	c.3827G>C	c.(3826-3828)gGa>gCa	p.G1276A	PRKDC_ENST00000338368.3_Missense_Mutation_p.G1276A|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1277					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.G1276A(1)|p.G1277R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGGAGCGCTCCTACAGTTCT	0.607000								Non-homologous end-joining					4	24					0	0	0.014758	0	0
OR10R2	343406	broad.mit.edu	37	1	158450025	158450025	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158450025C>T	ENST00000368152.1	+	1	358	c.358C>T	c.(358-360)Caa>Taa	p.Q120*	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q120*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTGTGCTCTTCAAATGTTCTT	0.453000													121	354					0	0	0.014410	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821683	5821683	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:5821683C>A	ENST00000381095.3	-	5	1663	c.1036G>T	c.(1036-1038)Ggc>Tgc	p.G346C	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G346C|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G346C|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G346C|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G366C	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	346					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.G346C(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGACGTCGCCGTCGATCACC	0.582000													37	19					1.00001e-27	1.25971e-27	0.009718	1	0
HOXD3	3232	broad.mit.edu	37	2	177034065	177034065	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:177034065C>A	ENST00000468418.3	+	3	2313	c.223C>A	c.(223-225)Cct>Act	p.P75T	HOXD3_ENST00000249440.3_Missense_Mutation_p.P75T|HOXD3_ENST00000410016.1_Missense_Mutation_p.P75T			P31249	HXD3_HUMAN	homeobox D3	75					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P75T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GAGCTCTGCCCCTCTGAGAGC	0.667000													25	58					5.35356e-11	6.2066e-11	0.016522	1	0
SHROOM3	57619	broad.mit.edu	37	4	77660856	77660856	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:77660856G>A	ENST00000296043.6	+	5	2483	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	510					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.K509K(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CATGCAACAAGATGGCTACCA	0.547000													15	109					0	0	0.004990	0	0
FAM86B3P	286042	broad.mit.edu	37	8	8095839	8095839	+	RNA	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:8095839C>G	ENST00000523017.1	-	0	608																											CAGAGAAGAGCAGACACTGCC	0.602000													3	47					0	0	0.004672	0	0
ENOX1	55068	broad.mit.edu	37	13	43788178	43788178	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:43788178G>A	ENST00000261488.6	-	17	2457	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M	ENOX1_ENST00000412891.1_Missense_Mutation_p.T627M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	627					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.T627M(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTTTTCCAGCGTGGCTCCCAC	0.438000													33	79					0	0	0.012213	0	0
TTN	7273	broad.mit.edu	37	2	179579143	179579143	+	Silent	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179579143A>C	ENST00000589042.1	-	91	26582	c.26358T>G	c.(26356-26358)tcT>tcG	p.S8786S	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.S8469S|TTN_ENST00000342992.6_Silent_p.S7542S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8469	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S7542S(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)			TTTCTGAATAAGAAATCCATA	0.413000													9	83					0	0	0.006214	0	0
BARD1	580	broad.mit.edu	37	2	215646023	215646023	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:215646023G>A	ENST00000260947.4	-	4	709	c.575C>T	c.(574-576)tCt>tTt	p.S192F	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.S48F	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	192					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.S192F(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCCCTCTCAGAAACATCTGC	0.383000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				42	112					0	0	0.011902	0	0
SUPT6H	6830	broad.mit.edu	37	17	27008931	27008931	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:27008931G>A	ENST00000314616.6	+	13	1813	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	SUPT6H_ENST00000347486.4_Silent_p.Q510Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	510					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.Q510Q(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)					ATGAGGAGCAGAGGGGGCCTG	0.517000													5	32					0	0	0.014758	0	0
IKZF1	10320	broad.mit.edu	37	7	50455159	50455159	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:50455159C>G	ENST00000331340.3	+	6	861	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.L149V|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.L149V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	236					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.L236V(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCCGGGCACACTGTACCCAGG	0.582000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	15					0	0	0.006214	0	0
CCDC135	84229	broad.mit.edu	37	16	57765098	57765098	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:57765098G>T	ENST00000360716.3	+	19	2774	c.2553G>T	c.(2551-2553)ctG>ctT	p.L851L	CCDC135_ENST00000336825.8_Silent_p.L786L|CCDC135_ENST00000394337.4_Silent_p.L851L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	851						cytoplasm		p.L851L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGCCCCACTGAAGTACCTGG	0.572000													24	46					1.38267e-23	1.7212e-23	0.027356	1	0
OR2T2	401992	broad.mit.edu	37	1	248616758	248616758	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:248616758G>A	ENST00000342927.3	+	1	682	c.660G>A	c.(658-660)acG>acA	p.T220T		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T220T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCCTACACGCACATCCTCC	0.527000													31	17					0	0	0.007291	0	0
POLG	5428	broad.mit.edu	37	15	89862318	89862318	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:89862318C>G	ENST00000268124.5	-	20	3450	c.3117G>C	c.(3115-3117)aaG>aaC	p.K1039N	POLG_ENST00000442287.2_Missense_Mutation_p.K1039N	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1039					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.K1039N(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)			CCTCCCACTTCTTCCACTGTG	0.502000								DNA polymerases (catalytic subunits)					27	70					0	0	0.007291	0	0
SHPRH	257218	broad.mit.edu	37	6	146264343	146264343	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:146264343G>T	ENST00000367503.3	-	9	2572	c.2174C>A	c.(2173-2175)tCc>tAc	p.S725Y	SHPRH_ENST00000367505.2_Missense_Mutation_p.S725Y|SHPRH_ENST00000275233.7_Missense_Mutation_p.S725Y|SHPRH_ENST00000438092.2_Missense_Mutation_p.S725Y	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	725	Helicase ATP-binding; second part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.S725Y(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTGACAGATGGAACTTGGAGA	0.473000													8	94					0.00307968	0.00329854	0.003080	1	0
POLQ	10721	broad.mit.edu	37	3	121230866	121230866	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:121230866G>A	ENST00000264233.5	-	10	1607	c.1479C>T	c.(1477-1479)atC>atT	p.I493I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	493	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.I628I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TACAAATTAAGATACTCTCGC	0.378000								DNA polymerases (catalytic subunits)					10	46					0	0	0.006214	0	0
CDH8	1006	broad.mit.edu	37	16	61859003	61859003	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:61859003C>A	ENST00000577390.1	-	5	1702	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	CDH8_ENST00000577730.1_Missense_Mutation_p.G250C|CDH8_ENST00000299345.6_Missense_Mutation_p.G250C|CDH8_ENST00000584337.1_Missense_Mutation_p.G250C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	250	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G250C(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GAGTGTCCACCCATATCTTTG	0.448000													43	60					3.05275e-18	3.72329e-18	0.013114	1	0
DPEP1	1800	broad.mit.edu	37	16	89703660	89703660	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:89703660C>T	ENST00000393092.3	+	7	931	c.640C>T	c.(640-642)Cac>Tac	p.H214Y	DPEP1_ENST00000261615.4_Missense_Mutation_p.H214Y|DPEP1_ENST00000421184.1_Missense_Mutation_p.H214Y	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	214					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.H214Y(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CGACTTGGCTCACGTGTCTGT	0.662000													8	41					0	0	0.003080	0	0
SLC22A18	5002	broad.mit.edu	37	11	2929522	2929522	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:2929522C>T	ENST00000380574.1	+	3	635	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SLC22A18_ENST00000449793.2_Silent_p.F68F|SLC22A18_ENST00000312221.5_Silent_p.F68F|SLC22A18_ENST00000347936.2_Silent_p.F68F			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	68					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding	p.F68F(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAACCACCTTCGGGGTGCTGC	0.627000													7	46					0	0	0.008291	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773660	35773660	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:35773660C>T	ENST00000360215.1	+	1	590	c.213C>T	c.(211-213)aaC>aaT	p.N71N	LHFPL5_ENST00000373853.1_Silent_p.N71N	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	71						integral to membrane		p.N71N(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCGTGGGTAACGTGCTGTCCT	0.587000													37	179					0	0	0.019004	0	0
SCN3A	6328	broad.mit.edu	37	2	165947525	165947525	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:165947525C>A	ENST00000360093.3	-	28	5629	c.5138G>T	c.(5137-5139)gGa>gTa	p.G1713V	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1713V|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1664V|SCN3A_ENST00000540861.1_Missense_Mutation_p.G196V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1713						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G1664V(1)|p.G1713V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGCTAGCAATCCATCCCAGCC	0.468000													75	169					1.51875e-23	1.88504e-23	0.014410	1	0
PAPPA	5069	broad.mit.edu	37	9	118949434	118949434	+	Splice_Site	SNP	G	G	A	rs138083509		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:118949434G>A	ENST00000328252.3	+	2	786	c.415_splice	c.e2-1	p.G139_splice		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	139					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.G139G(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCCACATAGGGCTGTATGACA	0.408000													10	60					0	0	0.010729	0	0
DUSP27	92235	broad.mit.edu	37	1	167097297	167097297	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:167097297A>G	ENST00000361200.2	+	6	3095	c.2929A>G	c.(2929-2931)Agt>Ggt	p.S977G	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S977G|DUSP27_ENST00000443333.1_Missense_Mutation_p.S977G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	977	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.S977G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TAAATCCTCCAGTTACAAGTT	0.498000													20	75					0	0	0.008871	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774545	98774545	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:98774545C>G	ENST00000407474.3	+	4	1169	c.656C>G	c.(655-657)tCt>tGt	p.S219C				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0	Helicase ATP-binding.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	p.S219C(1)									TTTAACTCGTCTTCTGTAAAC	0.299000													3	19					0	0	0.004672	0	0
TRPS1	7227	broad.mit.edu	37	8	116599829	116599829	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:116599829C>T	ENST00000395715.3	-	5	2676	c.2099G>A	c.(2098-2100)aGa>aAa	p.R700K	TRPS1_ENST00000519674.1_Missense_Mutation_p.R687K|TRPS1_ENST00000520276.1_Missense_Mutation_p.R691K|TRPS1_ENST00000220888.5_Missense_Mutation_p.R687K|TRPS1_ENST00000519076.1_Missense_Mutation_p.R441K	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	687	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R700K(1)|p.R687K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCTGTGTGCTCTCCTGGAGAA	0.448000									Langer-Giedion syndrome				36	99					0	0	0.027894	0	0
SENP7	57337	broad.mit.edu	37	3	101060619	101060619	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:101060619G>A	ENST00000394095.2	-	15	2164	c.2111C>T	c.(2110-2112)tCa>tTa	p.S704L	SENP7_ENST00000314261.7_Missense_Mutation_p.S638L|SENP7_ENST00000394094.2_Missense_Mutation_p.S639L|SENP7_ENST00000358203.3_Missense_Mutation_p.S540L|SENP7_ENST00000348610.3_Missense_Mutation_p.S671L|SENP7_ENST00000394091.1_Missense_Mutation_p.S540L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	704					proteolysis	nucleus	cysteine-type peptidase activity	p.S704L(1)|p.S638L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCTGTGTTTGAGGGCTGACA	0.418000													4	43					0	0	0.009096	0	0
LY75	4065	broad.mit.edu	37	2	160661621	160661621	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:160661621G>A	ENST00000263636.4	-	35	5130	c.5103C>T	c.(5101-5103)ttC>ttT	p.F1701F	LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75-CD302_ENST00000504764.1_Intron|LY75_ENST00000554112.1_Intron	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.F1701F(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GAACTGATGAGAAACCCGCCA	0.408000													19	50					0	0	0.008871	0	0
CCNB3	85417	broad.mit.edu	37	X	50053789	50053789	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:50053789T>G	ENST00000376042.1	+	6	2918	c.2620T>G	c.(2620-2622)Ttt>Gtt	p.F874V	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.F874V			Q8WWL7	CCNB3_HUMAN	cyclin B3	874					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.F874V(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GGAGGCCCTCTTTAAGCGACA	0.512000													17	28					0	0	0.006122	0	0
RPL5	6125	broad.mit.edu	37	1	93306114	93306114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:93306114G>T	ENST00000370321.3	+	7	802	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	238					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	p.E238*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TCAGATGGAGGAGATGTATAA	0.363000													34	99					6.53348e-20	8.03827e-20	0.017118	1	0
BAG1	573	broad.mit.edu	37	9	33264328	33264328	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:33264328C>T	ENST00000472232.3	-	1	431	c.345G>A	c.(343-345)gaG>gaA	p.E115E	BAG1_ENST00000379704.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	BCL2-associated athanogene	115	7 X 6 AA tandem repeat of E-E-X(4).				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	p.E115E(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCCGATTCATCTCTTCGCCCT	0.647000													26	16					0	0	0.024334	0	0
MYSM1	114803	broad.mit.edu	37	1	59139252	59139252	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:59139252G>A	ENST00000472487.1	-	11	1604	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	522					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T522M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TACCTCAAACGTTTGTCCTTC	0.383000													4	69					0	0	0.014758	0	0
PRSS55	203074	broad.mit.edu	37	8	10387085	10387085	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:10387085G>C	ENST00000328655.3	+	2	263	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.E75Q	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	75	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.E75Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GATGGAGGCGGAGGTGGGTGA	0.512000													84	227					0	0	0.014410	0	0
BCMO1	53630	broad.mit.edu	37	16	81324006	81324006	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:81324006C>T	ENST00000258168.2	+	11	1929	c.1468C>T	c.(1468-1470)Ctc>Ttc	p.L490F	BCMO1_ENST00000425577.2_Missense_Mutation_p.L421F	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	490					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	p.L490F(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GCCTTTTCTGCTCATTCTGGA	0.433000													37	73					0	0	0.007835	0	0
ACOX2	8309	broad.mit.edu	37	3	58508312	58508312	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:58508312C>A	ENST00000302819.5	-	12	1834	c.1543G>T	c.(1543-1545)Gtg>Ttg	p.V515L	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.V501L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	515					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.V515L(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)		AAATGCTGCACTGAGTCCTTT	0.527000													15	62					3.27435e-08	3.66519e-08	0.020292	1	0
DGKI	9162	broad.mit.edu	37	7	137282598	137282598	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:137282598C>T	ENST00000453654.1	-	12	945	c.406G>A	c.(406-408)Gga>Aga	p.G136R	DGKI_ENST00000424189.2_Missense_Mutation_p.G436R|DGKI_ENST00000288490.5_Missense_Mutation_p.G436R|DGKI_ENST00000446122.1_Missense_Mutation_p.G436R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	436					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.G436R(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCTACCGTTCCATCCCCACCA	0.393000													8	27					0	0	0.004482	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802437	185802437	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:185802437C>T	ENST00000302277.6	+	4	2908	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	772						intracellular	zinc ion binding	p.R772C(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTATCGAAAACGTAGACAACA	0.343000													29	75					0	0	0.009535	0	0
GCNT4	51301	broad.mit.edu	37	5	74325767	74325767	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:74325767T>C	ENST00000322348.4	-	1	957	c.96A>G	c.(94-96)ctA>ctG	p.L32L		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	32					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.L32L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GTCTCACATTTAGAAGCTTTA	0.363000													61	210					0	0	0.014410	0	0
RTCA	8634	broad.mit.edu	37	1	100757055	100757055	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:100757055C>T	ENST00000370128.4	+	11	1265	c.1096C>T	c.(1096-1098)Cta>Tta	p.L366L	RTCA_ENST00000260563.4_Silent_p.L379L	NM_003729.3	NP_003720.1	O00442	RTC1_HUMAN	RNA 3'-terminal phosphate cyclase	366					RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	p.L366L(1)									AAATCCAAATCTATAGAGTAT	0.303000													8	252					0	0	0.003080	0	0
PXDNL	137902	broad.mit.edu	37	8	52321922	52321922	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:52321922C>A	ENST00000356297.4	-	17	2362	c.2262G>T	c.(2260-2262)caG>caT	p.Q754H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q754H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	754					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.Q754H(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGTAGGCTGGCTGCAGCAGGC	0.751000													5	10					5.9392e-07	6.57833e-07	0.021553	1	0
GABRG2	2566	broad.mit.edu	37	5	161580236	161580236	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:161580236A>C	ENST00000356592.3	+	10	1750	c.1290A>C	c.(1288-1290)gaA>gaC	p.E430D	GABRG2_ENST00000414552.2_Missense_Mutation_p.E470D|GABRG2_ENST00000393933.4_Missense_Mutation_p.E327D|GABRG2_ENST00000361925.4_Missense_Mutation_p.E422D	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	422	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.E430D(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCTGTTTTGAAGATTGTCGAA	0.468000													25	155					0	0	0.018920	0	0
CYLC2	1539	broad.mit.edu	37	9	105767260	105767260	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:105767260A>C	ENST00000374798.3	+	5	417	c.347A>C	c.(346-348)aAg>aCg	p.K116T	CYLC2_ENST00000487798.1_Missense_Mutation_p.K116T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	116	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.K116T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GAAATTGGTAAGAAAGGTGAA	0.294000													5	54					0	0	0.003080	0	0
OR5T1	390155	broad.mit.edu	37	11	56043714	56043714	+	Silent	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:56043714T>A	ENST00000313033.2	+	1	686	c.600T>A	c.(598-600)tcT>tcA	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398000													19	242					0	0	0.008871	0	0
TUBA1A	7846	broad.mit.edu	37	12	49578828	49578828	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:49578828C>G	ENST00000301071.7	-	4	1665	c.1321G>C	c.(1321-1323)Gaa>Caa	p.E441Q	TUBA1A_ENST00000295766.5_Missense_Mutation_p.E441Q|TUBA1A_ENST00000550767.1_Missense_Mutation_p.E406Q	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	441					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E441Q(1)		stomach(1)|upper_aerodigestive_tract(1)	2						CCCTCTCCTTCAACAGAATCC	0.463000													11	242					0	0	0.010729	0	0
ECHDC1	55862	broad.mit.edu	37	6	127636021	127636021	+	Missense_Mutation	SNP	G	G	A	rs146146402		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:127636021G>A	ENST00000531967.1	-	5	958	c.455C>T	c.(454-456)gCg>gTg	p.A152V	ECHDC1_ENST00000430841.2_Missense_Mutation_p.A146V|ECHDC1_ENST00000528402.1_Silent_p.C53C|ECHDC1_ENST00000368289.2_Silent_p.C128C|ECHDC1_ENST00000474289.2_Missense_Mutation_p.A146V|ECHDC1_ENST00000454859.3_Missense_Mutation_p.A146V|ECHDC1_ENST00000454591.2_Missense_Mutation_p.A71V|ECHDC1_ENST00000309620.9_Missense_Mutation_p.A129V|ECHDC1_ENST00000368291.2_Silent_p.C128C	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	152							catalytic activity	p.C128C(1)|p.A152V(1)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TTGAACCAGCGCAACACTTAT	0.289000													9	67					0	0	0.010729	0	0
MX2	4600	broad.mit.edu	37	21	42748999	42748999	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:42748999G>T	ENST00000330714.3	+	2	350	c.166G>T	c.(166-168)Gct>Tct	p.A56S	MX2_ENST00000543692.1_Missense_Mutation_p.A56S	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	56					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.A56S(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGAGAAGGACGCTGCTTTCCT	0.527000													43	96					3.61848e-18	4.40057e-18	0.007835	1	0
USP53	54532	broad.mit.edu	37	4	120213799	120213799	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:120213799C>G	ENST00000450251.1	+	15	3199	c.2655C>G	c.(2653-2655)atC>atG	p.I885M	USP53_ENST00000274030.6_Missense_Mutation_p.I885M			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	885					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.I884M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AACAAAATATCATGGATCAAT	0.408000													10	42					0	0	0.008291	0	0
ZNF532	55205	broad.mit.edu	37	18	56648817	56648817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:56648817G>T	ENST00000336078.4	+	10	4155	c.3379G>T	c.(3379-3381)Gag>Tag	p.E1127*	ZNF532_ENST00000591230.1_Nonsense_Mutation_p.E1127*|ZNF532_ENST00000589288.1_Nonsense_Mutation_p.E1127*|ZNF532_ENST00000591808.1_Nonsense_Mutation_p.E1127*|ZNF532_ENST00000591083.1_Nonsense_Mutation_p.E1127*|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E1127*(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCCACCAATGAGGAGGAAAC	0.418000													32	45					8.16721e-17	9.76363e-17	0.010818	1	0
ZNF35	7584	broad.mit.edu	37	3	44701145	44701145	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:44701145C>T	ENST00000396056.2	+	4	1525	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Silent_p.L270L|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	430				Missing (in Ref. 1; CAA30268).	cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L430L(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TCAGTCAGCTCTCTTGCCTTA	0.443000													19	74					0	0	0.008871	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752734	49752734	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:49752734G>C	ENST00000492622.2	+	14	1866	c.1561G>C	c.(1561-1563)Gaa>Caa	p.E521Q	FNDC3A_ENST00000541916.1_Missense_Mutation_p.E521Q|FNDC3A_ENST00000398316.3_Missense_Mutation_p.E465Q	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	521	Fibronectin type-III 3.					Golgi membrane|integral to membrane		p.E521Q(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATATGATGGAGAAGATCTTGC	0.323000													30	77					0	0	0.012213	0	0
MALAT1	378938	broad.mit.edu	37	11	65273372	65273372	+	RNA	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:65273372G>C	ENST00000534336.1	+	0	8140					NR_002819.2																						TTGAGTGGCTGAGAGGGCTTT	0.428000													7	90					0	0	0.001984	0	0
MUC7	4589	broad.mit.edu	37	4	71347020	71347020	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:71347020G>C	ENST00000413702.1	+	4	847	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	MUC7_ENST00000304887.5_Missense_Mutation_p.E187Q|MUC7_ENST00000456088.1_Missense_Mutation_p.E187Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	187	Thr-rich.					extracellular region	protein binding	p.E187Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGCTCCACCAGAGACCACAGC	0.587000													21	122					0	0	0.012319	0	0
ZP3	7784	broad.mit.edu	37	7	76058924	76058924	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:76058924G>C	ENST00000336517.4	+	3	598	c.252G>C	c.(250-252)gaG>gaC	p.E84D	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000394857.3_Missense_Mutation_p.E135D	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	135	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	p.E84D(1)|p.E135D(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ACCGCGCAGAGATTCCCATCG	0.622000													25	26					0	0	0.021523	0	0
AHCTF1	25909	broad.mit.edu	37	1	247068858	247068858	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:247068858T>C	ENST00000366508.1	-	6	1107	c.971A>G	c.(970-972)cAg>cGg	p.Q324R	AHCTF1_ENST00000391829.2_Missense_Mutation_p.Q289R|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Q298R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	289	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.Q289R(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)			TTGTGTAGACTGAACAGCCCA	0.408000													29	73					0	0	0.012213	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966042	88966042	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:88966042C>G	ENST00000333190.4	+	4	4355	c.3746C>G	c.(3745-3747)tCg>tGg	p.S1249W		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1249						intracellular	zinc ion binding	p.S1249W(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTTCATTTTCGACTCTGACT	0.458000										HNSCC(36;0.09)			9	158					0	0	0.008291	0	0
RSF1	51773	broad.mit.edu	37	11	77388035	77388035	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:77388035C>T	ENST00000308488.6	-	13	3445	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	RSF1_ENST00000360355.2_Missense_Mutation_p.R1017Q|RSF1_ENST00000480887.1_Missense_Mutation_p.R796Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1048					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.R1048Q(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATCTTTTCCTCGGCCAACTCC	0.418000													7	117					0	0	0.003080	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612013	120612013	+	Missense_Mutation	SNP	G	G	A	rs150390977	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:120612013G>A	ENST00000256646.2	-	1	227	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	3					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.A3V(3)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGCGCAGGGCGGGCATCTT	0.746000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	15					0	0	0.009096	0	0
HEATR2	54919	broad.mit.edu	37	7	808794	808794	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:808794G>A	ENST00000403952.3	+	1	683	c.10G>A	c.(10-12)Ggc>Agc	p.G4S	HEATR2_ENST00000313147.5_Intron|HEATR2_ENST00000297440.6_Intron			Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	0							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GATGACTGGCGGCGCCAGGGA	0.622000													6	13					0	0	0.001984	0	0
FHIT	2272	broad.mit.edu	37	3	59737985	59737985	+	Silent	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:59737985T>A	ENST00000468189.1	-	9	781	c.411A>T	c.(409-411)gcA>gcT	p.A137A	FHIT_ENST00000476844.1_Silent_p.A137A|FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000341848.4_Silent_p.A137A|FHIT_ENST00000492590.1_Silent_p.A137A			P49789	FHIT_HUMAN	fragile histidine triad	137					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	p.A137A(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CTGCGGCTTCTGCTGCCATTT	0.517000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				6	77					0	0	0.004482	0	0
UBE2L3	7332	broad.mit.edu	37	22	21921998	21921998	+	Translation_Start_Site	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:21921998G>A	ENST00000342192.4	+	0	163				UBE2L3_ENST00000458578.2_Intron	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3						cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					GGCCGGCCGCGATGCATTCTG	0.697000													6	12					0	0	0.001984	0	0
AR	367	broad.mit.edu	37	X	66863122	66863122	+	Silent	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:66863122T>G	ENST00000374690.3	+	2	2165	c.1641T>G	c.(1639-1641)gtT>gtG	p.V547V	AR_ENST00000504326.1_Silent_p.V547V|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.V547V|AR_ENST00000396043.2_Silent_p.V15V	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	546	Modulating.		L -> F (in PAIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.V357V(1)|p.V547V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GGGACCATGTTTTGCCCATTG	0.473000									Androgen Insensitivity Syndrome				12	67					0	0	0.020292	0	0
ADAM7	8756	broad.mit.edu	37	8	24324370	24324370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:24324370G>T	ENST00000175238.6	+	6	531	c.448G>T	c.(448-450)Gag>Tag	p.E150*	ADAM7_ENST00000380789.1_Nonsense_Mutation_p.E150*|ADAM7_ENST00000441335.2_Nonsense_Mutation_p.E150*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	150					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E150*(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ATACTCAGATGAGGGAGAACA	0.393000													49	107					2.43468e-25	3.03975e-25	0.014410	1	0
ABCC11	85320	broad.mit.edu	37	16	48201504	48201504	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:48201504A>T	ENST00000394747.1	-	28	4308	c.3959T>A	c.(3958-3960)aTc>aAc	p.I1320N	ABCC11_ENST00000356608.2_Missense_Mutation_p.I1320N|ABCC11_ENST00000394748.1_Missense_Mutation_p.I1320N|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.I1282N	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1320	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.I1320N(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)				GGCTTCACGGATTGTGCGCTG	0.532000													46	98					0	0	0.014410	0	0
TRO	7216	broad.mit.edu	37	X	54949381	54949381	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:54949381C>T	ENST00000173898.7	+	3	528	c.416C>T	c.(415-417)gCc>gTc	p.A139V	TRO_ENST00000319167.8_Missense_Mutation_p.A139V|TRO_ENST00000484031.1_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.A139V|TRO_ENST00000375041.2_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	139					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.A139V(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCTAAGAAAGCCAACAAGATG	0.517000													17	13					0	0	0.006122	0	0
POTEE	445582	broad.mit.edu	37	2	131976395	131976395	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:131976395G>A	ENST00000356920.5	+	1	514	c.420G>A	c.(418-420)ctG>ctA	p.L140L	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.L140L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	140							ATP binding	p.L140L(2)									GAGAAGATCTGGACAAGCTCC	0.577000													6	139					0	0	0.016723	0	0
PRDM2	7799	broad.mit.edu	37	1	14108929	14108929	+	Missense_Mutation	SNP	C	C	T	rs144820187	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:14108929C>T	ENST00000235372.7	+	8	5495	c.4639C>T	c.(4639-4641)Ccc>Tcc	p.P1547S	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P1346S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P1346S|PRDM2_ENST00000311066.5_Missense_Mutation_p.P1547S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1547						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1547S(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGTCCCACTTCCCTCCTCATC	0.547000													6	91					0	0	0.021553	0	0
SLC7A5	8140	broad.mit.edu	37	16	87866630	87866630	+	Splice_Site	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:87866630G>C	ENST00000261622.4	-	10	1535	c.1468_splice	c.e10-1	p.F490_splice	SLC7A5_ENST00000565644.1_Splice_Site_p.F224_splice	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	490					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	p.F490L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CGGTCGTGGAGACTGTCAGGA	0.657000													30	125					0	0	0.007291	0	0
SPEF2	79925	broad.mit.edu	37	5	35771819	35771819	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:35771819G>T	ENST00000440995.2	+	27	3895	c.3895G>T	c.(3895-3897)Gag>Tag	p.E1299*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.E1304*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1304					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.E1304*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTCAAAAAGGAGCCACCCAA	0.403000													18	52					3.41278e-10	3.89242e-10	0.004990	1	0
SUN3	256979	broad.mit.edu	37	7	48033980	48033980	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:48033980C>G	ENST00000453192.2	-	9	1000	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	SUN3_ENST00000297325.4_Missense_Mutation_p.E265Q|SUN3_ENST00000395572.2_Missense_Mutation_p.E265Q|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000412142.1_Missense_Mutation_p.E165Q			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	265	SUN.					integral to membrane		p.E265Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGATGTGCTCCATGGTAACA	0.458000													26	193					0	0	0.027356	0	0
IP6K2	51447	broad.mit.edu	37	3	48725789	48725789	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:48725789C>T	ENST00000328631.5	-	6	1421	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	400					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.E400K(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCTGGCCCTCATGCACCACG	0.557000													26	40					0	0	0.009535	0	0
XYLB	9942	broad.mit.edu	37	3	38401862	38401862	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:38401862G>C	ENST00000207870.3	+	3	263	c.173G>C	c.(172-174)gGg>gCg	p.G58A	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	58					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	p.G58A(1)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CACAAGGATGGGCTGACGGTC	0.532000													36	90					0	0	0.008740	0	0
DOK2	9046	broad.mit.edu	37	8	21768239	21768239	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:21768239C>T	ENST00000276420.4	-	4	821	c.563G>A	c.(562-564)gGg>gAg	p.G188E	DOK2_ENST00000544659.1_Missense_Mutation_p.G34E	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	188	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G188*(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CAGCTGGGTCCCTGGCTCGGG	0.632000													15	32					0	0	0.008871	0	0
LOC349160	349160	broad.mit.edu	37	7	136848884	136848884	+	RNA	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:136848884A>C	ENST00000439694.1	-	0	164				AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000598184.1_RNA																							CTGTTGGTCAAACTGTACAGG	0.517000													3	39					0	0	0.004672	0	0
ABCC5	10057	broad.mit.edu	37	3	183639187	183639187	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:183639187C>T	ENST00000334444.6	-	30	4455	c.4215G>A	c.(4213-4215)gtG>gtA	p.V1405V	ABCC5_ENST00000265586.6_Silent_p.V1362V	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1405	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.V1405V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAACTCCACCACCTGCAAAA	0.557000													10	39					0	0	0.008291	0	0
CCDC60	160777	broad.mit.edu	37	12	119909847	119909847	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:119909847G>C	ENST00000327554.2	+	3	684	c.219G>C	c.(217-219)ctG>ctC	p.L73L	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	73								p.L73L(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TTGCTATTCTGAGGGAAGAGA	0.463000													50	105					0	0	0.014410	0	0
ZC3H10	84872	broad.mit.edu	37	12	56514975	56514975	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:56514975G>A	ENST00000257940.2	+	3	905	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	210							nucleic acid binding|zinc ion binding	p.R210Q(2)		breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCAAAACGCCGGCGAGGTGGA	0.557000													4	68					0	0	0.009096	0	0
ATP2B1	490	broad.mit.edu	37	12	89992965	89992965	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:89992965C>T	ENST00000428670.3	-	20	3736	c.3280G>A	c.(3280-3282)Gat>Aat	p.D1094N	ATP2B1_ENST00000348959.3_Missense_Mutation_p.D1058N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.D1094N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.D1094N|ATP2B1_ENST00000393164.2_Missense_Mutation_p.D837N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1094					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.D1094N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCAGCGTGATCAATCTCTTCA	0.453000													30	102					0	0	0.007291	0	0
MAVS	57506	broad.mit.edu	37	20	3838387	3838387	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr20:3838387G>A	ENST00000428216.2	+	3	351	c.223G>A	c.(223-225)Gca>Aca	p.A75T	MAVS_ENST00000416600.2_Intron|MAVS_ENST00000358134.6_Missense_Mutation_p.A75T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	75	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	p.A75T(1)		autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CTTCATTGCGGCACTGAGGGG	0.632000													4	145					0	0	0.009096	0	0
NALCN	259232	broad.mit.edu	37	13	101910917	101910917	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:101910917C>A	ENST00000251127.6	-	11	1224	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.M381I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	381						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.M381I(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)					CGGATGACCGCATCATTTTCT	0.463000													4	47					0.00909568	0.00971741	0.009096	1	0
CDH6	1004	broad.mit.edu	37	5	31316422	31316422	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:31316422G>T	ENST00000265071.2	+	9	1763	c.1498G>T	c.(1498-1500)Gca>Tca	p.A500S	CDH6_ENST00000514738.1_Missense_Mutation_p.A445S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	500	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.A500S(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGTGAAAAAGCAAAGGCAGA	0.343000													25	33					1.1804e-14	1.40318e-14	0.021523	1	0
OSBPL8	114882	broad.mit.edu	37	12	76763494	76763494	+	Missense_Mutation	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:76763494T>A	ENST00000261183.3	-	20	2642	c.2163A>T	c.(2161-2163)aaA>aaT	p.K721N	OSBPL8_ENST00000393250.4_Missense_Mutation_p.K679N|OSBPL8_ENST00000393249.2_Missense_Mutation_p.K679N	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	721					lipid transport		lipid binding	p.K721N(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CATTTTTTGTTTTCCGATCCC	0.388000													13	78					0	0	0.024245	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14987175	14987175	+	Translation_Start_Site	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:14987175G>C	ENST00000453695.2	-	0	259				DCLRE1C_ENST00000378289.4_Missense_Mutation_p.L59V|DCLRE1C_ENST00000378258.1_De_novo_Start_OutOfFrame|DCLRE1C_ENST00000378246.2_De_novo_Start_InFrame|DCLRE1C_ENST00000357717.2_Intron|DCLRE1C_ENST00000378249.1_De_novo_Start_InFrame|DCLRE1C_ENST00000378255.1_De_novo_Start_InFrame|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.L59V|DCLRE1C_ENST00000378254.1_De_novo_Start_OutOfFrame|DCLRE1C_ENST00000396817.2_De_novo_Start_InFrame	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C						DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	p.L59V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GAACAGTATAGATAAACCTTC	0.303000								Non-homologous end-joining					23	27					0	0	0.006320	0	0
POLR3C	10623	broad.mit.edu	37	1	145598609	145598609	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:145598609C>T	ENST00000334163.3	-	8	1044	c.884G>A	c.(883-885)aGa>aAa	p.R295K	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.R295K	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	295					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.R295K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			AGGTAGGGATCTGAAGATCTA	0.408000													42	139					0	0	0.009718	0	0
XIRP2	129446	broad.mit.edu	37	2	168096470	168096470	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:168096470G>A	ENST00000409195.1	+	6	1053	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	XIRP2_ENST00000409043.1_Missense_Mutation_p.E322K|XIRP2_ENST00000295237.9_Missense_Mutation_p.E322K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E100K|XIRP2_ENST00000409756.2_Missense_Mutation_p.E322K|XIRP2_ENST00000420519.1_Missense_Mutation_p.E355K|XIRP2_ENST00000409605.1_Missense_Mutation_p.E100K|XIRP2_ENST00000409728.1_Missense_Mutation_p.E355K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	147					actin cytoskeleton organization	cell junction	actin binding	p.E322K(1)|p.E355K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCATGGAACAGAAATGGTAAC	0.378000													7	62					0	0	0.001984	0	0
MTMR11	10903	broad.mit.edu	37	1	149901597	149901597	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:149901597G>A	ENST00000439741.2	-	16	2109	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P548L|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	620	Myotubularin phosphatase.						phosphatase activity	p.P620L(1)|p.P548L(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)			CAGCAGCCCTGGAGGTAAAGG	0.587000													35	170					0	0	0.013726	0	0
RIT2	6014	broad.mit.edu	37	18	40323480	40323480	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:40323480T>G	ENST00000326695.5	-	5	803	c.632A>C	c.(631-633)aAg>aCg	p.K211T	RIT2_ENST00000589109.1_3'UTR|RIT2_ENST00000590910.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	211					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.K211T(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCTCTCTTCTTCTTCAAAGA	0.388000													15	108					0	0	0.024245	0	0
IRGC	56269	broad.mit.edu	37	19	44223520	44223520	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:44223520C>T	ENST00000244314.5	+	2	1009	c.810C>T	c.(808-810)acC>acT	p.T270T		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	270						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.T270T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCCTCAAGACCGCCCTGGTGT	0.657000													6	49					0	0	0.003080	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64747409	64747409	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:64747409G>A	ENST00000536360.1	-	7	1779	c.966C>T	c.(964-966)ctC>ctT	p.L322L				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L322L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGAAGCTATCGAGGGACTTGT	0.413000													28	50					0	0	0.006320	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													3	104					0	0	0.009096	0	0
SALL1	6299	broad.mit.edu	37	16	51174300	51174300	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:51174300T>G	ENST00000440970.1	-	2	1973	c.1542A>C	c.(1540-1542)gaA>gaC	p.E514D	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E611D|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	611					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E611D(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCCTTCGGCTTCCTCTGGGA	0.622000													4	41					0	0	0.014758	0	0
FCER1A	2205	broad.mit.edu	37	1	159277622	159277622	+	Nonsense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:159277622C>G	ENST00000368115.1	+	6	773	c.674C>G	c.(673-675)tCa>tGa	p.S225*	FCER1A_ENST00000368114.1_Nonsense_Mutation_p.S192*	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	225						integral to plasma membrane		p.S225*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTATTTATCTCAACTCAGCAG	0.438000													30	80					0	0	0.008361	0	0
IFT88	8100	broad.mit.edu	37	13	21265279	21265279	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:21265279G>C	ENST00000319980.6	+	28	2794	c.2467G>C	c.(2467-2469)Gat>Cat	p.D823H	IFT88_ENST00000382778.4_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.D814H|IFT88_ENST00000537103.1_Missense_Mutation_p.D795H	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	823					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.D823H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGATTTTGCTGATGAAGAATT	0.373000													29	61					0	0	0.027356	0	0
SYCP1	6847	broad.mit.edu	37	1	115456644	115456644	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:115456644C>G	ENST00000369522.3	+	20	1936	c.1696C>G	c.(1696-1698)Caa>Gaa	p.Q566E	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q566E	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	566					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.Q566E(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAATCTTCAAGAAACAGA	0.239000													18	36					0	0	0.007413	0	0
ASTN1	460	broad.mit.edu	37	1	176853571	176853571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:176853571C>A	ENST00000367654.2	-	19	3167	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*	ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E1044*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E1044*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E1044*			O14525	ASTN1_HUMAN	astrotactin 1	1052	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E1044*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGAGTGTTCCCACTCCAGG	0.537000													16	106					3.41278e-10	3.89242e-10	0.004990	1	0
DOCK2	1794	broad.mit.edu	37	5	169111353	169111353	+	Splice_Site	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:169111353A>C	ENST00000256935.8	+	8	840	c.761_splice	c.e8+1	p.S254_splice		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	254					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S254R(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACGGTCATAAGGTAGGTGTG	0.488000													9	132					0	0	0.004482	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996548	39996548	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:39996548C>T	ENST00000336649.4	+	5	372	c.372C>T	c.(370-372)atC>atT	p.I124I	CACNA1I_ENST00000407673.1_Silent_p.I124I|CACNA1I_ENST00000404898.1_Silent_p.I124I|CACNA1I_ENST00000402142.3_Silent_p.I124I|CACNA1I_ENST00000401624.1_Silent_p.I124I|CACNA1I_ENST00000400164.3_Silent_p.I124I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	124					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	p.I124I(2)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATCTTTATCTTCTTTGCCA	0.557000													7	51					0	0	0.004482	0	0
OR5L2	26338	broad.mit.edu	37	11	55594902	55594902	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:55594902G>A	ENST00000378397.1	+	1	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTCCTTTGTAGATTTCTGCTA	0.463000										HNSCC(27;0.073)			91	194					0	0	0.014410	0	0
ARSJ	79642	broad.mit.edu	37	4	114824400	114824400	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:114824400C>A	ENST00000315366.7	-	2	1696	c.830G>T	c.(829-831)aGg>aTg	p.R277M	ARSJ_ENST00000541197.1_Missense_Mutation_p.R277M	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	277						extracellular region	arylsulfatase activity|metal ion binding	p.R277K(1)|p.R277M(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCGAAATACCTGCCAGGAGC	0.423000													16	74					2.35188e-11	2.7417e-11	0.006122	1	0
NR2F1	7025	broad.mit.edu	37	5	92929473	92929473	+	Silent	SNP	C	C	T	rs138827038	byFrequency	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:92929473C>T	ENST00000327111.3	+	3	2884	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	399					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.I399I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AAACCCCCATCGAAACTCTCA	0.572000													23	95					0	0	0.018920	0	0
TPH1	7166	broad.mit.edu	37	11	18057575	18057575	+	Missense_Mutation	SNP	G	G	C	rs146455709	byFrequency	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:18057575G>C	ENST00000250018.2	-	2	794	c.232C>G	c.(232-234)Cat>Gat	p.H78D	TPH1_ENST00000341556.2_Missense_Mutation_p.H78D	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	78	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.H78D(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCAGCAGATGAAAAATATCA	0.323000													4	76					0	0	0.014758	0	0
AMPD2	271	broad.mit.edu	37	1	110172893	110172893	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:110172893C>T	ENST00000256578.3	+	16	2544	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528667.1_Silent_p.I728I|AMPD2_ENST00000528454.1_Silent_p.I610I|AMPD2_ENST00000342115.4_Silent_p.I647I|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.I653I|AMPD2_ENST00000393688.3_Silent_p.I609I	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	728					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.I728I(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGCCCAGATCGGCATCGCCA	0.652000													65	129					0	0	0.014410	0	0
BBS9	27241	broad.mit.edu	37	7	33427662	33427662	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:33427662G>A	ENST00000242067.6	+	19	2542	c.2021G>A	c.(2020-2022)cGg>cAg	p.R674Q	BBS9_ENST00000396127.2_Missense_Mutation_p.R639Q|BBS9_ENST00000355070.2_Missense_Mutation_p.R669Q|BBS9_ENST00000354265.4_Missense_Mutation_p.R639Q|BBS9_ENST00000350941.3_Missense_Mutation_p.R634Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	674					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R674L(2)|p.R674Q(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTACAATTTCGGGCCATTCAA	0.403000									Bardet-Biedl syndrome				22	278					0	0	0.016522	0	0
KDM5C	8242	broad.mit.edu	37	X	53223699	53223699	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:53223699G>C	ENST00000452825.3	-	21	3991	c.3459C>G	c.(3457-3459)ctC>ctG	p.L1153L	KDM5C_ENST00000375383.3_Silent_p.L1179L|KDM5C_ENST00000375401.3_Silent_p.L1220L|KDM5C_ENST00000404049.3_Silent_p.L1219L|KDM5C_ENST00000375379.3_Silent_p.L1220L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1220					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.L1153L(1)|p.L1220L(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCGGAGAGCTGAGGAGGCGAG	0.632000			"""N, F, S"""		clear cell renal carcinoma								5	5					0	0	0.021553	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431286	117431286	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:117431286G>A	ENST00000160373.3	-	4	2055	c.1964C>T	c.(1963-1965)tCc>tTc	p.S655F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	655								p.S655F(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AATGACAAGGGAACTGTCTGA	0.577000													6	65					0	0	0.021553	0	0
LAMA3	3909	broad.mit.edu	37	18	21526203	21526203	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:21526203C>T	ENST00000313654.9	+	70	9547	c.9306C>T	c.(9304-9306)atC>atT	p.I3102I	LAMA3_ENST00000399516.3_Silent_p.I3046I|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.I1437I|LAMA3_ENST00000269217.6_Silent_p.I1493I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3102	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.I1493I(1)|p.I3102I(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATCAGCATCAGAGCGCCAG	0.502000													11	73					0	0	0.010729	0	0
SMARCA4	6597	broad.mit.edu	37	19	11168983	11168983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:11168983G>T	ENST00000358026.2	+	32	4857	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1462*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1460*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1462*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.E1493*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1493*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1463*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1459*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1463*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1493	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.E1525*(1)|p.E1493*(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCGCGAAAGGAGCTGCCCGA	0.637000			"""F, N, Mis"""		NSCLC								13	15					0.000219431	0.000239277	0.020292	1	0
GK	2710	broad.mit.edu	37	X	30739036	30739036	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:30739036C>T	ENST00000378943.3	+	17	1586	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	RP11-242C19.2_ENST00000497961.1_RNA|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Silent_p.V469V|GK_ENST00000378946.3_Silent_p.V475V|GK_ENST00000427190.1_Silent_p.V270V	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	475					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.V469V(1)		central_nervous_system(1)|large_intestine(3)	4						CAGAAGGAGTCGGCGTATGGA	0.522000													13	8					0	0	0.020292	0	0
THBS4	7060	broad.mit.edu	37	5	79378926	79378926	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:79378926G>A	ENST00000350881.2	+	22	3038	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	THBS4_ENST00000511733.1_Missense_Mutation_p.E859K|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	950					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.E950K(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGACTTCCAAGAGTTTCAAAC	0.502000											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	134					0	0	0.009718	0	0
EPHB3	2049	broad.mit.edu	37	3	184297342	184297342	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:184297342G>C	ENST00000330394.2	+	10	2331	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	627						integral to plasma membrane	ATP binding|ephrin receptor activity	p.E627Q(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTTTGCCAAGGAGATCGACGT	0.557000													5	57					0	0	0.014758	0	0
C1orf63	57035	broad.mit.edu	37	1	25573111	25573111	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:25573111G>C	ENST00000243189.7	-	2	620	c.344C>G	c.(343-345)tCc>tGc	p.S115C	C1orf63_ENST00000417642.2_Missense_Mutation_p.S108C|C1orf63_ENST00000431849.2_Missense_Mutation_p.S115C	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	115	Arg-rich.							p.S115C(1)		breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGCTACGGGACCGGGACCG	0.677000													27	64					0	0	0.024334	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011473	46011473	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:46011473C>A	ENST00000400368.1	-	1	913	c.893G>T	c.(892-894)tGc>tTc	p.C298F	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	298	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.C298F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGAGGGTCTGCAGCAGGAGGC	0.677000													54	75					6.3237e-29	8.03796e-29	0.014410	1	0
LEFTY2	7044	broad.mit.edu	37	1	226125264	226125264	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:226125264C>A	ENST00000366820.5	-	4	1326	c.978G>T	c.(976-978)atG>atT	p.M326I	LEFTY2_ENST00000420304.2_Missense_Mutation_p.M292I	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	326					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	p.M326I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGCTGACGATCATGGGCAGCG	0.662000													15	49					1.3612e-06	1.49981e-06	0.024245	1	0
AGXT2	64902	broad.mit.edu	37	5	35010148	35010148	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:35010148C>T	ENST00000231420.6	-	12	1495	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	432					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.R432Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACCTTTGCCTCGGACGTCTCC	0.448000													17	76					0	0	0.028581	0	0
GPC3	2719	broad.mit.edu	37	X	133087112	133087112	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:133087112T>C	ENST00000370818.3	-	2	747	c.302A>G	c.(301-303)aAg>aGg	p.K101R	GPC3_ENST00000394299.2_Missense_Mutation_p.K101R|GPC3_ENST00000543339.1_Intron	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	101						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	p.K101R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AATTAAGAACTTGAGCTCCAT	0.433000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				23	111					0	0	0.014323	0	0
SLC9B1	150159	broad.mit.edu	37	4	103806449	103806449	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:103806449C>T	ENST00000394789.3	-	12	1490	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	CISD2_ENST00000273986.4_Silent_p.L60L|CISD2_ENST00000503643.1_Silent_p.L70L	NM_001100874.2	NP_001094344.1	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	0						integral to membrane	solute:hydrogen antiporter activity	p.L60L(1)									GTCCATTCCTCCCGAAGAAGA	0.373000													22	92					0	0	0.016522	0	0
MUC2	4583	broad.mit.edu	37	11	1096391	1096391	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:1096391G>A	ENST00000441003.2	+	34	6443	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D	MUC2_ENST00000361558.6_Missense_Mutation_p.G277D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4501						inner mucus layer|outer mucus layer	protein binding	p.G2139D(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCTACCAGGGCAACTGCACC	0.602000													3	55					0	0	0.004672	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551822	100551822	+	RNA	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:100551822G>A	ENST00000397112.4	-	0	1633					NR_036632.1													p.Q11*(1)		large_intestine(1)|lung(3)	4						GGCATGGGCTGAGGCACCTCC	0.642000													10	32					0	0	0.006214	0	0
CARD9	64170	broad.mit.edu	37	9	139265114	139265114	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:139265114C>T	ENST00000371732.5	-	5	832	c.667G>A	c.(667-669)Gac>Aac	p.D223N	CARD9_ENST00000371734.3_Missense_Mutation_p.D223N|CARD9_ENST00000315908.7_Missense_Mutation_p.D223N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	223					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.D223N(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ACCTTGCAGTCGTCCTCGGCC	0.657000													5	39					0	0	0.021553	0	0
ASXL3	80816	broad.mit.edu	37	18	31323324	31323324	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:31323324A>T	ENST00000269197.5	+	12	3512	c.3512A>T	c.(3511-3513)aAg>aTg	p.K1171M		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.K1171M(1)|p.K878M(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTAGCAACAAGTCTGCCCAC	0.458000													5	36					0	0	0.014758	0	0
CCDC25	55246	broad.mit.edu	37	8	27598009	27598009	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:27598009C>A	ENST00000356537.4	-	8	670	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Nonsense_Mutation_p.E125*|CCDC25_ENST00000522915.1_Nonsense_Mutation_p.E125*	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	193								p.E193*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GACATATTTTCAACTTTCATT	0.318000													64	145					3.07281e-33	3.92948e-33	0.014410	1	0
KIF2B	84643	broad.mit.edu	37	17	51901606	51901606	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:51901606G>T	ENST00000268919.4	+	1	1368	c.1212G>T	c.(1210-1212)gtG>gtT	p.V404V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	404	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V404V(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAACCTGGTGGAAATAGGGA	0.522000													26	60					4.59853e-10	5.23067e-10	0.027356	1	0
DNAL1	83544	broad.mit.edu	37	14	74154042	74154042	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:74154042G>A	ENST00000311089.3	+	5	266	c.6G>A	c.(4-6)aaG>aaA	p.K2K	DNAL1_ENST00000554871.1_Silent_p.K76K|DNAL1_ENST00000554339.1_Silent_p.K28K|DNAL1_ENST00000553645.1_Silent_p.K115K|DNAL1_ENST00000540526.1_Silent_p.K76K			Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1	115								p.K115K(2)		kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		ACATAATGAAGAAATTGAAGA	0.388000													17	35					0	0	0.028581	0	0
KANSL1	284058	broad.mit.edu	37	17	44117133	44117133	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:44117133C>T	ENST00000262419.6	-	8	2608	c.2138G>A	c.(2137-2139)gGc>gAc	p.G713D	KANSL1_ENST00000574590.1_Missense_Mutation_p.G713D|KANSL1_ENST00000572904.1_Missense_Mutation_p.G713D|KANSL1_ENST00000432791.1_Missense_Mutation_p.G713D|KANSL1_ENST00000393476.3_Missense_Mutation_p.G70D|KANSL1_ENST00000575318.1_Missense_Mutation_p.G713D	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	713						MLL1 complex	protein binding	p.G713D(1)									TGGCAGACTGCCCGGCATGGG	0.502000													5	124					0	0	0.014758	0	0
KCTD8	386617	broad.mit.edu	37	4	44449818	44449818	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:44449818G>A	ENST00000360029.3	-	1	1006	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	241						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I241I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGCCAGCGCGATGCGCCCGC	0.667000										HNSCC(17;0.042)			3	11					0	0	0.004672	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974056	46974056	+	Silent	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:46974056C>G	ENST00000313683.10	-	2	542	c.237G>C	c.(235-237)ctG>ctC	p.L79L	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Silent_p.L79L	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	79								p.L79L(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ggatggtgctcagattcacac	0.507000													8	20					0	0	0.003080	0	0
PRRX1	5396	broad.mit.edu	37	1	170695456	170695456	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:170695456C>T	ENST00000239461.6	+	3	826	c.513C>T	c.(511-513)gaC>gaT	p.D171D	PRRX1_ENST00000367760.3_Silent_p.D171D|PRRX1_ENST00000497230.2_Silent_p.D171D|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D171D(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTCAGGAGACGTGACTGCTG	0.557000													10	52					0	0	0.006214	0	0
OR2M4	26245	broad.mit.edu	37	1	248402282	248402282	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:248402282T>G	ENST00000306687.1	+	1	52	c.52T>G	c.(52-54)Ttc>Gtc	p.F18V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F18V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGGGAATCTTCAATCACAG	0.438000													15	177					0	0	0.007413	0	0
RNF121	55298	broad.mit.edu	37	11	71701662	71701662	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:71701662A>G	ENST00000361756.3	+	6	887	c.526A>G	c.(526-528)Atg>Gtg	p.M176V	RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Missense_Mutation_p.M144V|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Missense_Mutation_p.M144V|RNF121_ENST00000545854.1_Missense_Mutation_p.M95V	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	176						integral to membrane	zinc ion binding	p.M176V(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGAAGATGCCATGGACTTTGG	0.473000													53	119					0	0	0.014410	0	0
RGS6	9628	broad.mit.edu	37	14	72945014	72945014	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:72945014G>C	ENST00000553530.1	+	12	1038	c.831G>C	c.(829-831)ttG>ttC	p.L277F	RGS6_ENST00000402788.2_Missense_Mutation_p.L277F|RGS6_ENST00000554782.1_Missense_Mutation_p.L138F|RGS6_ENST00000434263.2_Missense_Mutation_p.L208F|RGS6_ENST00000555571.1_Missense_Mutation_p.L277F|RGS6_ENST00000343854.6_Missense_Mutation_p.L277F|RGS6_ENST00000556437.1_Missense_Mutation_p.L277F|RGS6_ENST00000355512.6_Missense_Mutation_p.L277F|RGS6_ENST00000407322.4_Missense_Mutation_p.L277F|RGS6_ENST00000553525.1_Missense_Mutation_p.L277F|RGS6_ENST00000404301.2_Missense_Mutation_p.L277F|RGS6_ENST00000406236.4_Missense_Mutation_p.L277F	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	277	G protein gamma.				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.L277F(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)		GACATTGTTTGAAAATGTCCA	0.338000													6	34					0	0	0.021553	0	0
CELSR3	1951	broad.mit.edu	37	3	48696534	48696534	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:48696534G>C	ENST00000544264.1	-	1	3814	c.3534C>G	c.(3532-3534)aaC>aaG	p.N1178K	CELSR3_ENST00000164024.4_Missense_Mutation_p.N1178K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1178	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.N1178K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGATACATAGTTGTTGAAGA	0.547000													4	69					0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179604934	179604934	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179604934T>C	ENST00000589042.1	-	48	13250	c.13026A>G	c.(13024-13026)aaA>aaG	p.K4342K	TTN_ENST00000460472.2_Silent_p.K3979K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.K4025K|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.K4171K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K4104K|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4025	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K4104K(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)			AATGCTCTTCTTTGAGCAGTA	0.473000													4	156					0	0	0.009096	0	0
CUBN	8029	broad.mit.edu	37	10	16994356	16994356	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:16994356C>T	ENST00000377833.4	-	33	4953	c.4888G>A	c.(4888-4890)Gat>Aat	p.D1630N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1630	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.D1630N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACAGTATCAAATGAGCTG	0.433000													21	106					0	0	0.010504	0	0
COL4A5	1287	broad.mit.edu	37	X	107840675	107840675	+	Silent	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:107840675T>G	ENST00000328300.6	+	24	1900	c.1656T>G	c.(1654-1656)acT>acG	p.T552T	COL4A5_ENST00000361603.2_Silent_p.T552T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	552	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.T552T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATATCCTCACTTTTCCAGGAA	0.512000									Alport syndrome with Diffuse Leiomyomatosis				17	52					0	0	0.004990	0	0
LRRK1	79705	broad.mit.edu	37	15	101593183	101593183	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:101593183G>A	ENST00000284395.5	+	26	4137	c.3737G>A	c.(3736-3738)gGc>gAc	p.G1246D	LRRK1_ENST00000388948.3_Missense_Mutation_p.G1249D|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1249	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1249D(1)|p.G1261D(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCGTCCTGGGCCAGGGCGGC	0.632000													25	44					0	0	0.006320	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868936	31868936	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:31868936G>A	ENST00000375527.2	-	2	322	c.147C>T	c.(145-147)gtC>gtT	p.V49V	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	49	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V49V(1)		endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CGGCCAAGATGACCTTGTGGC	0.632000													5	34					0	0	0.021553	0	0
RIMS2	9699	broad.mit.edu	37	8	104709462	104709462	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:104709462T>C	ENST00000406091.3	+	2	325	c.325T>C	c.(325-327)Tca>Cca	p.S109P		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	140	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S109P(1)|p.S145P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCATAACTGTTCATATTGCCA	0.438000										HNSCC(12;0.0054)			3	132					0	0	0.009096	0	0
MYOZ1	58529	broad.mit.edu	37	10	75391780	75391780	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:75391780G>C	ENST00000359322.4	-	6	1172	c.808C>G	c.(808-810)Cga>Gga	p.R270G		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	270					myofibril assembly	nucleus|pseudopodium	FATZ binding	p.R270G(1)		central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					ATAGGGGTTCGATTGAAAGAA	0.537000													21	33					0	0	0.010504	0	0
KEAP1	9817	broad.mit.edu	37	19	10602775	10602775	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:10602775A>G	ENST00000171111.5	-	3	1350	c.803T>C	c.(802-804)cTg>cCg	p.L268P	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.L268P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	268	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.L268P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CACGGCCCGCAGCAGCGCCTG	0.627000													9	33					0	0	0.008291	0	0
SPTA1	6708	broad.mit.edu	37	1	158596652	158596652	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158596652G>T	ENST00000368148.3	-	41	5990	c.5810C>A	c.(5809-5811)gCt>gAt	p.A1937D	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1934D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1937					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A1937D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACCACATCAGCCTTCCAGTT	0.463000													15	274					1.3612e-06	1.49981e-06	0.024245	1	0
GLTSCR2	29997	broad.mit.edu	37	19	48255844	48255844	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:48255844C>G	ENST00000246802.5	+	6	783	c.745C>G	c.(745-747)Cca>Gca	p.P249A	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	249						nucleolus		p.P249A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCTACAATCCATCCTTTGA	0.652000													6	22					0	0	0.001984	0	0
IGFL2	147920	broad.mit.edu	37	19	46663876	46663876	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:46663876G>T	ENST00000434646.2	+	4	403	c.112G>T	c.(112-114)Gct>Tct	p.A38S	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.A27S	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	27						extracellular region	protein binding	p.A38S(1)		cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCCAGCTCCCGCTGGCTCAGA	0.572000													74	85					1.62783e-20	2.0086e-20	0.014410	1	0
NRXN3	9369	broad.mit.edu	37	14	79175708	79175708	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:79175708A>C	ENST00000554719.1	+	4	742	c.251A>C	c.(250-252)tAc>tCc	p.Y84S	NRXN3_ENST00000335750.5_Missense_Mutation_p.Y84S|RP11-232C2.2_ENST00000555680.1_RNA	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.Y84S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCAGAGGCTTACATCAGCTTG	0.502000													3	71					0	0	0.004672	0	0
PPP3CC	5533	broad.mit.edu	37	8	22368701	22368701	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:22368701G>A	ENST00000240139.5	+	5	914	c.587G>A	c.(586-588)gGa>gAa	p.G196E	PPP3CC_ENST00000518852.1_Missense_Mutation_p.G196E|PPP3CC_ENST00000289963.8_Missense_Mutation_p.G196E|PPP3CC_ENST00000397775.3_Missense_Mutation_p.G196E	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	196					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity	p.G196E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTGTACATGGAGGAATGTCA	0.363000													8	102					0	0	0.003080	0	0
RYR2	6262	broad.mit.edu	37	1	237947171	237947171	+	Missense_Mutation	SNP	G	G	C	rs41267517		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:237947171G>C	ENST00000366574.2	+	90	12476	c.12159G>C	c.(12157-12159)gaG>gaC	p.E4053D	RYR2_ENST00000542537.1_Missense_Mutation_p.E4037D|RYR2_ENST00000360064.6_Missense_Mutation_p.E4059D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4053	EF-hand.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E4051D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCGATGGAGAGCCATAAGC	0.448000													4	40					0	0	0.009096	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886265	88886265	+	Translation_Start_Site	SNP	T	T	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:88886265T>A	ENST00000319675.3	-	0	31					NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2											breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAAGTACCGCTTCTTTACAAG	0.582000													8	7					0	0	0.003080	0	0
OR52R1	119695	broad.mit.edu	37	11	4825130	4825130	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:4825130G>T	ENST00000380382.1	-	1	717	c.718C>A	c.(718-720)Ccc>Acc	p.P240T	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.P161T|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P160T(1)|p.P240T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGCAGAAGGGGCTCACCCAC	0.562000													18	62					3.41278e-10	3.89242e-10	0.004990	1	0
GRIA1	2890	broad.mit.edu	37	5	152870470	152870470	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:152870470T>C	ENST00000285900.5	+	1	365	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L	GRIA1_ENST00000340592.5_Missense_Mutation_p.F8L|GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.F8L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	8					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.F8L(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTTTGCCTTCTTCTGCACCGG	0.502000													13	338					0	0	0.016723	0	0
USH2A	7399	broad.mit.edu	37	1	216371906	216371906	+	Missense_Mutation	SNP	G	G	C	rs150978513	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:216371906G>C	ENST00000366943.2	-	18	4218	c.3832C>G	c.(3832-3834)Cta>Gta	p.L1278V	USH2A_ENST00000366942.3_Missense_Mutation_p.L1278V|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.L1278V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1278	Fibronectin type-III 3.				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.L1278V(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)		CTCATGTATAGTTCATATCTT	0.388000										HNSCC(13;0.011)			13	50					0	0	0.028581	0	0
RNASE10	338879	broad.mit.edu	37	14	20978765	20978765	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:20978765G>T	ENST00000430083.1	+	2	623	c.219G>T	c.(217-219)tgG>tgT	p.W73C	RNASE10_ENST00000328444.5_Missense_Mutation_p.W45C			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	45						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.W45C(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		ATGAATTTTGGTCCAGTGACT	0.552000													57	85					6.75472e-32	8.61176e-32	0.014410	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73075516	73075516	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:73075516G>C	ENST00000263674.3	+	18	5771	c.5421G>C	c.(5419-5421)caG>caC	p.Q1807H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1807					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.Q1807H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGGACCCCCAGAACTTCAAAT	0.532000													25	86					0	0	0.018920	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069903	29069903	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:29069903C>T	ENST00000373812.3	+	4	1483	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S374F|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S324F|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	374					humoral immune response			p.S374F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGGACAGTCTCAGGCTGGT	0.527000													37	78					0	0	0.017118	0	0
ATP8A2	51761	broad.mit.edu	37	13	26436463	26436463	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:26436463A>C	ENST00000381655.2	+	33	3242	c.3100A>C	c.(3100-3102)Agc>Cgc	p.S1034R	ATP8A2_ENST00000255283.8_Missense_Mutation_p.S969R|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	994					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S1034R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGTCTGGGGAAGCATGCTGAC	0.527000													10	84					0	0	0.010729	0	0
DDI1	414301	broad.mit.edu	37	11	103908057	103908057	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:103908057A>C	ENST00000302259.3	+	1	750	c.507A>C	c.(505-507)gaA>gaC	p.E169D	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	169					proteolysis		aspartic-type endopeptidase activity	p.E169D(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTTGGCGGAAGCCCTGCTCA	0.602000													6	67					0	0	0.021553	0	0
ATP11C	286410	broad.mit.edu	37	X	138857035	138857035	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chrX:138857035T>G	ENST00000370557.1	-	19	3057	c.2030A>C	c.(2029-2031)aAg>aCg	p.K677T	ATP11C_ENST00000361648.2_Missense_Mutation_p.K680T|ATP11C_ENST00000370543.1_Missense_Mutation_p.K680T|ATP11C_ENST00000359686.2_Missense_Mutation_p.K680T|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.K680T			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	680					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K680T(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTCTCCATCTTGTCCCCAGT	0.483000													10	59					0	0	0.006214	0	0
OR2T10	127069	broad.mit.edu	37	1	248756476	248756476	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:248756476G>A	ENST00000330500.2	-	1	624	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F198F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAAGTACATGAAAATCTTGT	0.448000													20	92					0	0	0.007413	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558341	106558341	+	Silent	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:106558341A>C	ENST00000526355.1	-	8	2601	c.2133T>G	c.(2131-2133)tcT>tcG	p.S711S	GUCY1A2_ENST00000347596.2_Silent_p.S732S|GUCY1A2_ENST00000282249.2_Silent_p.S742S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	711					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S711S(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTCGACGAAGAAAGAGAAG	0.478000													14	214					0	0	0.020292	0	0
STK31	56164	broad.mit.edu	37	7	23830456	23830456	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:23830456C>T	ENST00000354639.3	+	22	3046	c.2582C>T	c.(2581-2583)tCg>tTg	p.S861L	STK31_ENST00000428484.1_Missense_Mutation_p.S861L|STK31_ENST00000355870.3_Missense_Mutation_p.S884L|STK31_ENST00000433467.2_Missense_Mutation_p.S884L|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	884	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			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						CAGCGAGCCTCGGTGAACATG	0.398000													7	73					0	0	0.004482	0	0
FZD7	8324	broad.mit.edu	37	2	202899457	202899457	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:202899457C>T	ENST00000286201.1	+	1	148	c.87C>T	c.(85-87)ggC>ggT	p.G29G		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	29					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.G29G(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TGTCCGCGGGCGCCGGGGCGC	0.731000													28	36					0	0	0.024334	0	0
ABCA4	24	broad.mit.edu	37	1	94508894	94508894	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:94508894G>C	ENST00000370225.3	-	21	3274	c.3188C>G	c.(3187-3189)tCa>tGa	p.S1063*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1063	ABC transporter 1.		S -> P (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S1063*(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGAGCACCTGATAGGTCCTG	0.592000													10	60					0	0	0.008291	0	0
COL11A1	1301	broad.mit.edu	37	1	103462666	103462666	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:103462666T>C	ENST00000358392.2	-	26	2564	c.2247A>G	c.(2245-2247)aaA>aaG	p.K749K	COL11A1_ENST00000370096.3_Silent_p.K737K|COL11A1_ENST00000512756.1_Silent_p.K621K|COL11A1_ENST00000353414.4_Silent_p.K698K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	737	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.K737K(1)|p.K749K(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACTGGCCTTCTTTCCCAGGAT	0.328000													7	445					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179579856	179579856	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:179579856C>T	ENST00000589042.1	-	90	26281	c.26057G>A	c.(26056-26058)gGc>gAc	p.G8686D	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8369D|TTN_ENST00000342992.6_Missense_Mutation_p.G7442D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8369	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7442D(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)			GTACTTCTTGCCGCTCCTAAG	0.443000													5	362					0	0	0.021553	0	0
TLR4	7099	broad.mit.edu	37	9	120476748	120476748	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:120476748A>G	ENST00000355622.6	+	3	2443	c.2342A>G	c.(2341-2343)cAg>cGg	p.Q781R	TLR4_ENST00000394487.4_Missense_Mutation_p.Q741R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	781	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.Q781R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGCTCAGGCAGCAGGTGGAG	0.537000													7	60					0	0	0.001984	0	0
CNTLN	54875	broad.mit.edu	37	9	17409351	17409351	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:17409351G>C	ENST00000380647.3	+	16	2760	c.2676G>C	c.(2674-2676)caG>caC	p.Q892H	CNTLN_ENST00000262360.5_Missense_Mutation_p.Q892H|CNTLN_ENST00000425824.1_Missense_Mutation_p.Q892H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	892						centriole|membrane	two-component sensor activity	p.Q892H(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAACATCCCAGAAAATAAGTC	0.343000													55	65					0	0	0.014410	0	0
MYEF2	50804	broad.mit.edu	37	15	48446078	48446078	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:48446078C>A	ENST00000324324.7	-	10	1277	c.998G>T	c.(997-999)gGc>gTc	p.G333V	MYEF2_ENST00000267836.6_Missense_Mutation_p.G333V	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	333	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	p.G333V(1)		endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CATCCCAATGCCTCCAAGACC	0.388000													4	23					0.00116845	0.00125787	0.021553	1	0
TENM2	57451	broad.mit.edu	37	5	167420063	167420063	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:167420063G>A	ENST00000519204.1	+	4	817	c.699G>A	c.(697-699)agG>agA	p.R233R	TENM2_ENST00000545108.1_Silent_p.R354R|TENM2_ENST00000518659.1_Silent_p.R354R|TENM2_ENST00000520394.1_Silent_p.R163R|TENM2_ENST00000403607.2_Silent_p.R187R					teneurin transmembrane protein 2									p.R233R(1)|p.R354R(1)|p.R187R(1)									TGCTGCCCAGGAATACTTTCT	0.602000													17	66					0	0	0.028581	0	0
DOK2	9046	broad.mit.edu	37	8	21768240	21768240	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:21768240C>A	ENST00000276420.4	-	4	820	c.562G>T	c.(562-564)Ggg>Tgg	p.G188W	DOK2_ENST00000544659.1_Missense_Mutation_p.G34W	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	188	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G188*(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AGCTGGGTCCCTGGCTCGGGC	0.632000													14	32					8.00594e-06	8.77534e-06	0.007413	1	0
DCLK1	9201	broad.mit.edu	37	13	36379850	36379850	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:36379850G>A	ENST00000255448.4	-	15	2141	c.1930C>T	c.(1930-1932)Cat>Tat	p.H644Y	DCLK1_ENST00000360631.3_Missense_Mutation_p.H644Y|DCLK1_ENST00000379893.1_Missense_Mutation_p.H337Y	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	644	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.H644Y(2)|p.H337Y(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACCCAGGGATGCTCAAGTACT	0.408000													53	119					0	0	0.014410	0	0
MTR	4548	broad.mit.edu	37	1	237057846	237057846	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:237057846C>T	ENST00000366577.5	+	30	3788	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.R1081W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1132	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.R1132W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCTGGGGGACCGGCTGGCAGA	0.612000													10	82					0	0	0.006214	0	0
PARD3B	117583	broad.mit.edu	37	2	206036935	206036935	+	Splice_Site	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:206036935G>A	ENST00000406610.2	+	12	1828	c.1620_splice	c.e12-1	p.D541_splice	PARD3B_ENST00000351153.1_Splice_Site_p.D541_splice|PARD3B_ENST00000358768.2_Splice_Site_p.D479_splice|PARD3B_ENST00000462231.1_Splice_Site_p.D541_splice|PARD3B_ENST00000349953.3_Splice_Site_p.D541_splice	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	541	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction		p.D480N(1)|p.D479N(1)|p.D541N(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCTGCCTTAGGATGGTCGTCT	0.398000													13	75					0	0	0.020292	0	0
KNDC1	85442	broad.mit.edu	37	10	135038376	135038376	+	Missense_Mutation	SNP	G	G	A	rs141333921		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:135038376G>A	ENST00000304613.3	+	30	5253	c.5232G>A	c.(5230-5232)atG>atA	p.M1744I	KNDC1_ENST00000368572.2_Missense_Mutation_p.M1746I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1744					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.M1744I(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TACGGAGGATGAAGGCTACAT	0.612000													3	19					0	0	0.004672	0	0
AFP	174	broad.mit.edu	37	4	74308075	74308075	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:74308075C>G	ENST00000395792.2	+	5	645	c.545C>G	c.(544-546)gCt>gGt	p.A182G	AFP_ENST00000226359.2_Missense_Mutation_p.A182G	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	182	Albumin 1.				transport		metal ion binding	p.A182G(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCTTTGGGCTGCTCGCTAT	0.378000									Alpha-Fetoprotein, Hereditary Persistence of				22	38					0	0	0.014323	0	0
NSMAF	8439	broad.mit.edu	37	8	59512531	59512531	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:59512531C>T	ENST00000038176.3	-	17	1542	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E475K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	444	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.E475K(1)|p.E444K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CTGCTTACCTCTTTAAAATCC	0.333000													9	66					0	0	0.008291	0	0
IFT81	28981	broad.mit.edu	37	12	110618328	110618328	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:110618328G>A	ENST00000242591.5	+	12	1796	c.1290G>A	c.(1288-1290)agG>agA	p.R430R	IFT81_ENST00000552912.1_Silent_p.R430R	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	430					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.R430R(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TTTTGCAGAGGACTGAAGAAC	0.343000													10	50					0	0	0.013537	0	0
CSMD3	114788	broad.mit.edu	37	8	113316974	113316974	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:113316974T>C	ENST00000297405.5	-	52	8486	c.8242A>G	c.(8242-8244)Aga>Gga	p.R2748G	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2678G|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2708G|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2748	Sushi 16.					integral to membrane|plasma membrane		p.R2748G(1)|p.R2708G(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						CTTTCATTTCTCCAACTCCAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	65					0	0	0.021553	0	0
ACAN	176	broad.mit.edu	37	15	89399981	89399981	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:89399981G>C	ENST00000439576.2	+	12	4539	c.4165G>C	c.(4165-4167)Gag>Cag	p.E1389Q	ACAN_ENST00000559004.1_Missense_Mutation_p.E1389Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E1389Q|ACAN_ENST00000561243.1_Missense_Mutation_p.E1389Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1389					cell adhesion		hyaluronic acid binding|sugar binding	p.E1275Q(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCTGGAGTAGAGGACATCAG	0.542000													6	222					0	0	0.016723	0	0
GOLGA3	2802	broad.mit.edu	37	12	133353279	133353279	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:133353279G>A	ENST00000204726.3	-	21	4477	c.3919C>T	c.(3919-3921)Ctg>Ttg	p.L1307L	GOLGA3_ENST00000456883.2_Silent_p.L1307L|GOLGA3_ENST00000450791.2_Silent_p.L1307L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1307	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.L1307L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCAAGTCCAGCTGCTGCTTC	0.527000													43	77					0	0	0.013114	0	0
SLC25A39	51629	broad.mit.edu	37	17	42398804	42398804	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:42398804C>A	ENST00000225308.8	-	7	665	c.491G>T	c.(490-492)cGc>cTc	p.R164L	SLC25A39_ENST00000537904.2_Missense_Mutation_p.R149L|SLC25A39_ENST00000590194.1_Missense_Mutation_p.R164L|SLC25A39_ENST00000377095.5_Missense_Mutation_p.R172L|SLC25A39_ENST00000586016.1_Missense_Mutation_p.R40L	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	172					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		p.R164L(1)		endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGCTCACGGCGGGCCAGCGC	0.632000													21	48					1.28384e-07	1.4295e-07	0.012319	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	52					0	0	0.004672	0	0
RILP	83547	broad.mit.edu	37	17	1552103	1552103	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:1552103G>C	ENST00000301336.6	-	4	937	c.665C>G	c.(664-666)cCt>cGt	p.P222R		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	222					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	p.P222R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGGTCCTCAGGGTTCCCTGG	0.711000													3	9					0	0	0.004672	0	0
SYNJ1	8867	broad.mit.edu	37	21	34030051	34030051	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:34030051C>A	ENST00000382499.2	-	19	2552	c.2553G>T	c.(2551-2553)agG>agT	p.R851S	SYNJ1_ENST00000322229.7_Missense_Mutation_p.R812S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R851S|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R807S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R812S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	812	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R812S(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCCATTTCCTCCTTCTCCAAA	0.423000													32	55					2.42023e-17	2.90979e-17	0.015359	1	0
EIF2B3	8891	broad.mit.edu	37	1	45347297	45347297	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:45347297C>T	ENST00000360403.2	-	7	897	c.771G>A	c.(769-771)gaG>gaA	p.E257E	EIF2B3_ENST00000372183.3_Silent_p.E257E	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	257					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	p.E257E(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGACTTCAGCTCCTTTTTCT	0.468000													63	173					0	0	0.014410	0	0
CLASRP	11129	broad.mit.edu	37	19	45567459	45567459	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:45567459C>T	ENST00000544944.2	+	11	1787	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	CLASRP_ENST00000391953.4_Silent_p.P303P|CLASRP_ENST00000221455.3_Silent_p.P365P			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	365					mRNA processing|RNA splicing	nucleus		p.P365P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CTGGCGGCCCCGCCCCGGGAC	0.756000													7	7					0	0	0.001984	0	0
USPL1	10208	broad.mit.edu	37	13	31232310	31232310	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr13:31232310A>T	ENST00000255304.4	+	9	2438	c.2096A>T	c.(2095-2097)gAc>gTc	p.D699V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	699					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.D699V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		ATTGAGAAGGACGCTCAGTTA	0.348000													13	33					0	0	0.016723	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655729	40655729	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:40655729A>G	ENST00000406785.1	-	2	1881	c.1692T>C	c.(1690-1692)tcT>tcC	p.S564S	SLC8A1_ENST00000408028.2_Silent_p.S564S|SLC8A1_ENST00000406391.2_Silent_p.S564S|SLC8A1_ENST00000405901.3_Silent_p.S564S|SLC8A1_ENST00000405269.1_Silent_p.S564S|SLC8A1_ENST00000403092.1_Silent_p.S564S|SLC8A1_ENST00000402441.1_Silent_p.S564S|SLC8A1_ENST00000332839.4_Silent_p.S564S|SLC8A1_ENST00000542756.1_Silent_p.S564S|SLC8A1_ENST00000542024.1_Silent_p.S564S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	564	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.S564S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CTCGAGCTCCAGATGTTCTCA	0.458000													11	201					0	0	0.010729	0	0
CD1A	909	broad.mit.edu	37	1	158225933	158225933	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:158225933G>T	ENST00000289429.5	+	3	998	c.465G>T	c.(463-465)ggG>ggT	p.G155G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	155					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.G155G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTGGCTGGGAATATGGCCA	0.443000													33	90					1.22384e-17	1.48408e-17	0.013726	1	0
SLC15A3	51296	broad.mit.edu	37	11	60714087	60714087	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:60714087G>C	ENST00000227880.3	-	2	998	c.765C>G	c.(763-765)ccC>ccG	p.P255P		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	255					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.P255P(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TGCCCATCGGGGGCTTGGTGA	0.587000													23	59					0	0	0.018920	0	0
CELSR3	1951	broad.mit.edu	37	3	48686568	48686568	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:48686568C>T	ENST00000544264.1	-	18	6848	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E2185K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2185					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.E2185K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGACTGAGCTCTCGAAAGGCA	0.607000													7	14					0	0	0.004482	0	0
OR5M3	219482	broad.mit.edu	37	11	56237502	56237502	+	Missense_Mutation	SNP	T	T	G	rs148100298	by1000genomes	TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:56237502T>G	ENST00000312240.2	-	1	512	c.472A>C	c.(472-474)Aca>Cca	p.T158P		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTCCATAATGTTGCTGCCAGA	0.428000													4	143					0	0	0.009096	0	0
VWA2	340706	broad.mit.edu	37	10	116045881	116045881	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:116045881C>T	ENST00000603594.1	+	11	1502	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	VWA2_ENST00000392982.3_Missense_Mutation_p.A394V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	394	VWFA 2.					extracellular region		p.A394V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CTGCTGGTGGCGGTGCCTGTG	0.667000													9	97					0	0	0.006214	0	0
PTCH1	5727	broad.mit.edu	37	9	98242859	98242859	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:98242859G>A	ENST00000430669.2	-	6	1145	c.560C>T	c.(559-561)cCt>cTt	p.P187L	PTCH1_ENST00000418258.1_Missense_Mutation_p.P102L|PTCH1_ENST00000429896.2_Missense_Mutation_p.P102L|PTCH1_ENST00000437951.1_Missense_Mutation_p.P187L|PTCH1_ENST00000375274.2_Missense_Mutation_p.P252L|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000331920.6_Missense_Mutation_p.P253L|PTCH1_ENST00000421141.1_Missense_Mutation_p.P102L			Q13635	PTC1_HUMAN	patched 1	253					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.P252L(2)|p.P253L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCACCGCAAAGGAGGTTTACC	0.458000													8	44					0	0	0.004482	0	0
TRAM2	9697	broad.mit.edu	37	6	52370505	52370505	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:52370505C>A	ENST00000182527.3	-	9	766	c.767G>T	c.(766-768)cGc>cTc	p.R256L	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	256	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	p.R256L(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GATGAAGAGGCGGGTAACCCC	0.537000													36	46					6.70999e-13	7.84381e-13	0.019004	1	0
PRAMEF17	391004	broad.mit.edu	37	1	13718412	13718412	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:13718412A>G	ENST00000376098.4	+	3	901	c.875A>G	c.(874-876)aAg>aGg	p.K292R		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	292								p.K292R(1)		kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGCCTCAAGAACCCCTTG	0.493000													15	196					0	0	0.021523	0	0
RYR2	6262	broad.mit.edu	37	1	237806644	237806644	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:237806644G>C	ENST00000366574.2	+	48	7556	c.7239G>C	c.(7237-7239)aaG>aaC	p.K2413N	RYR2_ENST00000542537.1_Missense_Mutation_p.K2397N|RYR2_ENST00000360064.6_Missense_Mutation_p.K2411N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2413	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.K2411N(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCCGGGAAGGGAGAAGCCA	0.413000													65	223					0	0	0.014410	0	0
TEX15	56154	broad.mit.edu	37	8	30704643	30704643	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:30704643C>T	ENST00000256246.2	-	1	1965	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	631								p.E631K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCTGGACTTTCAGAAGAACAA	0.323000													23	81					0	0	0.016522	0	0
CHD6	84181	broad.mit.edu	37	20	40040832	40040832	+	Silent	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr20:40040832C>G	ENST00000373233.3	-	36	7380	c.7203G>C	c.(7201-7203)ctG>ctC	p.L2401L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2401					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.L2401L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTCCCCGCTCAGGGAGCTGA	0.517000													21	78					0	0	0.012319	0	0
NBR2	10230	broad.mit.edu	37	17	41291037	41291037	+	RNA	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:41291037C>G	ENST00000460115.1	+	0	490					NR_003108.1																						atatacaacccctttttgttt	0.438000													13	25					0	0	0.016723	0	0
RNF213	57674	broad.mit.edu	37	17	78321478	78321478	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:78321478G>A	ENST00000582970.1	+	29	9486	c.9343G>A	c.(9343-9345)Gca>Aca	p.A3115T	RNF213_ENST00000336301.6_Missense_Mutation_p.A1188T|RNF213_ENST00000508628.2_Missense_Mutation_p.A3164T	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.A3164T(2)|p.A1188T(2)		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)			CCTCTACGACGCACTCAACCA	0.562000													22	65					0	0	0.012319	0	0
MALAT1	378938	broad.mit.edu	37	11	65273513	65273513	+	RNA	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:65273513G>A	ENST00000534336.1	+	0	8281					NR_002819.2																						TTCTTTTCCTGAGAAAACAAC	0.398000													24	48					0	0	0.021523	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90566859	90566859	+	RNA	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:90566859C>G	ENST00000551025.1	+	0	1794							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.I119M(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CAGCACTTATCAAAACTGCCA	0.338000													4	10					0	0	0.014758	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465343	77465343	+	Missense_Mutation	SNP	G	G	A	rs145596475		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:77465343G>A	ENST00000282849.5	-	3	762	c.344C>T	c.(343-345)tCg>tTg	p.S115L	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	115					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S115L(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAAATCGCCGAGGGCTTAAG	0.488000													42	136					0	0	0.025465	0	0
ATP10B	23120	broad.mit.edu	37	5	160047786	160047786	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:160047786C>T	ENST00000327245.5	-	15	2830	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	662					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E662K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCTCTCTCATCCGAGTCT	0.582000													25	52					0	0	0.016522	0	0
USP44	84101	broad.mit.edu	37	12	95927518	95927518	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:95927518C>T	ENST00000258499.3	-	2	803	c.515G>A	c.(514-516)gGa>gAa	p.G172E	USP44_ENST00000393091.2_Missense_Mutation_p.G172E|USP44_ENST00000537435.2_Missense_Mutation_p.G172E|USP44_ENST00000552440.1_Missense_Mutation_p.G172E	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	172					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G172E(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTTTTTTCTTCCAATGGGTGA	0.363000													30	78					0	0	0.013726	0	0
CDH19	28513	broad.mit.edu	37	18	64218487	64218487	+	Missense_Mutation	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:64218487T>C	ENST00000262150.2	-	5	911	c.619A>G	c.(619-621)Aga>Gga	p.R207G	CDH19_ENST00000540086.1_Missense_Mutation_p.R207G	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	207	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R207G(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAAGATATTCTTATGACTCCT	0.313000													22	77					0	0	0.010504	0	0
MYCL	4610	broad.mit.edu	37	1	40363105	40363105	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:40363105C>G	ENST00000397332.2	-	3	1248	c.1124G>C	c.(1123-1125)aGa>aCa	p.R375T	MYCL_ENST00000372816.2_Missense_Mutation_p.R345T	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog									p.R375T(1)									TCGGAGCTGTCTTTTCTCTGT	0.522000													60	98					0	0	0.014410	0	0
DNMT1	1786	broad.mit.edu	37	19	10287991	10287991	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:10287991G>A	ENST00000340748.4	-	5	733	c.498C>T	c.(496-498)acC>acT	p.T166T	DNMT1_ENST00000359526.4_Silent_p.T182T|DNMT1_ENST00000540357.1_Silent_p.T166T			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	166	Interaction with DNMT3B.|Interaction with PCNA.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.T166T(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGATGTGATGGTGGTTTGCC	0.443000													5	30					0	0	0.014758	0	0
GLP2R	9340	broad.mit.edu	37	17	9792772	9792772	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:9792772T>G	ENST00000262441.5	+	13	1925	c.1412T>G	c.(1411-1413)tTc>tGc	p.F471C	GLP2R_ENST00000574745.1_Missense_Mutation_p.F291C	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	471					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.F471C(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGGAAGGACTTCCGGTTCCTA	0.587000													24	43					0	0	0.024334	0	0
LRRN1	57633	broad.mit.edu	37	3	3888070	3888070	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:3888070A>C	ENST00000319331.3	+	2	2506	c.1745A>C	c.(1744-1746)aAc>aCc	p.N582T	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	582	Fibronectin type-III.					integral to membrane		p.N582T(1)		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)		CATGAATACAACCTAACGCAT	0.433000													34	271					0	0	0.013726	0	0
AGAP3	116988	broad.mit.edu	37	7	150817229	150817229	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:150817229C>T	ENST00000397238.2	+	8	1125	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	AGAP3_ENST00000463381.1_Silent_p.F147F|AGAP3_ENST00000473312.1_Silent_p.F375F|AGAP3_ENST00000335367.3_Silent_p.F555F|AGAP3_ENST00000479901.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	339	PH.|Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.F375F(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCAACATCTTCACGGTACGTG	0.687000													6	16					0	0	0.021553	0	0
CENPF	1063	broad.mit.edu	37	1	214830338	214830338	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:214830338C>T	ENST00000366955.3	+	18	8716	c.8548C>T	c.(8548-8550)Ctt>Ttt	p.L2850F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2946	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.L2850F(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAAGAAACTCTTGAAGAAAA	0.368000													15	62					0	0	0.024245	0	0
ADD2	119	broad.mit.edu	37	2	70933523	70933523	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:70933523G>T	ENST00000264436.3	-	3	462	c.18C>A	c.(16-18)gtC>gtA	p.V6V	ADD2_ENST00000430656.1_Silent_p.V22V|ADD2_ENST00000355733.3_Silent_p.V6V|ADD2_ENST00000413157.2_Silent_p.V6V|ADD2_ENST00000407644.2_Silent_p.V6V	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	6					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	p.V6V(2)|p.V22V(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CAGCCTCGGGGACCGTCTCTT	0.647000													27	70					9.39395e-14	1.10733e-13	0.006320	1	0
CCND1	595	broad.mit.edu	37	11	69458698	69458698	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:69458698G>T	ENST00000227507.2	+	3	740	c.513G>T	c.(511-513)gcG>gcT	p.A171A	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	171					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.E172K(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGCCAGAGGCGGAGGAGAACA	0.587000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			27	36					2.41591e-17	2.90979e-17	0.024334	1	0
SNHG14	104472715	broad.mit.edu	37	15	25230377	25230377	+	RNA	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:25230377A>G	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA	NR_001293.1																						TTAGACTCTAAATTTCACATG	0.373000													5	49					0	0	0.014758	0	0
IFI16	3428	broad.mit.edu	37	1	159019381	159019381	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:159019381T>G	ENST00000295809.7	+	9	1912	c.1657T>G	c.(1657-1659)Tta>Gta	p.L553V	IFI16_ENST00000448393.2_Intron|IFI16_ENST00000368131.4_Intron|IFI16_ENST00000368132.3_Missense_Mutation_p.L497V|IFI16_ENST00000340979.6_Intron|IFI16_ENST00000430894.2_Missense_Mutation_p.L501V|IFI16_ENST00000359709.3_Missense_Mutation_p.L497V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	553					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CAGCAGTTTCTTAACCACGGT	0.498000													37	248					0	0	0.014410	0	0
THAP7	80764	broad.mit.edu	37	22	21354220	21354220	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:21354220C>T	ENST00000215742.4	-	4	1053	c.879G>A	c.(877-879)ctG>ctA	p.L293L	THAP7_ENST00000399133.2_Silent_p.L293L	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	293					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	p.L293L(2)		cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATGCTCCTTCAGAGTCTGGC	0.657000													7	49					0	0	0.001984	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762501	92762501	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:92762501G>A	ENST00000318238.4	-	5	4000	c.2784C>T	c.(2782-2784)ctC>ctT	p.L928L	SAMD9L_ENST00000411955.1_Silent_p.L928L|SAMD9L_ENST00000437805.1_Silent_p.L928L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	928								p.L928L(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATAAGAGCTGAGTAAAGCCA	0.368000													12	10					0	0	0.016723	0	0
OR5I1	10798	broad.mit.edu	37	11	55703807	55703807	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:55703807C>T	ENST00000301532.3	-	1	69	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E24K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATCTGCAGTTCAGGGCGAGTT	0.378000													4	30					0	0	0.021553	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42378515	42378515	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:42378515C>T	ENST00000290472.3	-	4	377	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	95	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	p.E95K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ACTGAGTCCTCATCATAGATG	0.493000													8	114					0	0	0.004482	0	0
FAM135A	57579	broad.mit.edu	37	6	71248050	71248050	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:71248050C>G	ENST00000418814.2	+	20	4788	c.4174C>G	c.(4174-4176)Cga>Gga	p.R1392G	FAM135A_ENST00000457062.2_Missense_Mutation_p.R1179G|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1196G|FAM135A_ENST00000370479.3_Missense_Mutation_p.R1179G|FAM135A_ENST00000505769.1_Missense_Mutation_p.R972G|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1392G	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1392								p.R1179G(1)|p.R1392G(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GCTGACATGTCGAGATCACTC	0.323000													10	60					0	0	0.008291	0	0
PTH2R	5746	broad.mit.edu	37	2	209355384	209355384	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:209355384C>T	ENST00000272847.2	+	12	1449	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	412						integral to plasma membrane	parathyroid hormone receptor activity	p.I412I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGTCTATCATCTACTGCTACT	0.443000													66	111					0	0	0.014410	0	0
ARMC7	79637	broad.mit.edu	37	17	73125037	73125037	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:73125037C>T	ENST00000245543.1	+	3	803	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	167							binding	p.F167F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TGGAGGACTTCTGCTCCCCCC	0.701000													5	14					0	0	0.014758	0	0
POTEF	728378	broad.mit.edu	37	2	130877669	130877669	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:130877669C>T	ENST00000357462.5	-	1	513	c.420G>A	c.(418-420)ctG>ctA	p.L140L	POTEF_ENST00000409914.2_Silent_p.L140L|POTEF_ENST00000360967.5_Silent_p.L140L|POTEF_ENST00000361163.4_Silent_p.L140L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	140						cell cortex	ATP binding	p.L140L(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGAGCTTGTCCAGATCTTCTC	0.572000													31	101					0	0	0.027894	0	0
ESPN	83715	broad.mit.edu	37	1	6488379	6488379	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:6488379G>A	ENST00000377828.1	+	2	556	c.388G>A	c.(388-390)Gac>Aac	p.D130N		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	130					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	p.D130N(1)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGGCGGTGGGGACCCCACCGC	0.632000													33	63					0	0	0.010818	0	0
WFS1	7466	broad.mit.edu	37	4	6296864	6296864	+	Missense_Mutation	SNP	A	A	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:6296864A>T	ENST00000226760.1	+	7	979	c.809A>T	c.(808-810)gAt>gTt	p.D270V	WFS1_ENST00000503569.1_Missense_Mutation_p.D270V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	270					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	p.D270V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GACGACGAAGATGATGACGAG	0.597000													13	59					0	0	0.013537	0	0
TROAP	10024	broad.mit.edu	37	12	49724414	49724414	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:49724414G>A	ENST00000551245.1	+	13	1897	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	TROAP_ENST00000257909.3_Missense_Mutation_p.E596K|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	596	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.E596K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CTGTAGGATTGAGCCTGAGAT	0.627000													8	88					0	0	0.006214	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984969	41984969	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:41984969G>A	ENST00000333141.5	+	1	1257	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	387								p.R387Q(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ATGGCTGTCCGGCAGGACCTT	0.567000													6	40					0	0	0.003080	0	0
SYMPK	8189	broad.mit.edu	37	19	46319126	46319126	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:46319126C>G	ENST00000245934.7	-	26	3914	c.3670G>C	c.(3670-3672)Gag>Cag	p.E1224Q	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1224					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.E1224Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGGGGCCCTCGAGACTAGAG	0.672000													4	16					0	0	0.009096	0	0
OVCH1	341350	broad.mit.edu	37	12	29617518	29617518	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:29617518C>A	ENST00000318184.5	-	18	2046	c.2047G>T	c.(2047-2049)Gta>Tta	p.V683L	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	683	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.V683L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGGAGACATACTGGCCTCACC	0.463000													22	49					2.89027e-11	3.36004e-11	0.014323	1	0
KIAA1715	80856	broad.mit.edu	37	2	176794750	176794750	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:176794750C>A	ENST00000272748.4	-	13	1479	c.1232G>T	c.(1231-1233)gGa>gTa	p.G411V	KIAA1715_ENST00000544803.1_Missense_Mutation_p.G442V|KIAA1715_ENST00000535310.1_3'UTR	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	411						integral to membrane	protein binding	p.G411V(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGAATCAGCTCCAGGAACTGT	0.433000													43	76					1.76056e-25	2.20461e-25	0.011902	1	0
TLR4	7099	broad.mit.edu	37	9	120476246	120476246	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr9:120476246G>A	ENST00000355622.6	+	3	1941	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	TLR4_ENST00000394487.4_Missense_Mutation_p.D574N|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	614	LRRCT.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.D614N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AACACCTTCAGATAAGCAGGG	0.463000													12	28					0	0	0.010729	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36103258	36103258	+	Silent	SNP	T	T	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:36103258T>C	ENST00000315571.5	+	3	270	c.249T>C	c.(247-249)caT>caC	p.H83H	LDLRAD3_ENST00000524419.1_Silent_p.H34H|LDLRAD3_ENST00000528989.1_Silent_p.H34H	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	83	LDL-receptor class A 2.					integral to membrane	receptor activity	p.H83H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GCGGCATCCATTGCATCATTG	0.517000													8	110					0	0	0.003080	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497624	1497624	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:1497624C>T	ENST00000421627.2	+	2	899	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	334					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.F299F(1)|p.F277F(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGAGCCCCTTCGGGGACCTGT	0.667000													31	86					0	0	0.015359	0	0
PRKCB	5579	broad.mit.edu	37	16	23847514	23847514	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:23847514G>T	ENST00000303531.7	+	1	170	c.18G>T	c.(16-18)gcG>gcT	p.A6A	PRKCB_ENST00000498058.1_Silent_p.A6A|PRKCB_ENST00000321728.7_Silent_p.A6A	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	6					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.A6A(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ACCCGGCTGCGGGGCCGCCGC	0.751000													5	15					5.9392e-07	6.57833e-07	0.021553	1	0
DPH1	1801	broad.mit.edu	37	17	1936833	1936833	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:1936833C>T	ENST00000263083.6	+	2	156	c.111C>T	c.(109-111)atC>atT	p.I37I	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	37					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		p.I37I(1)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCAATCAGATCCCCCCTGAGA	0.557000													24	68					0	0	0.024334	0	0
POM121L12	285877	broad.mit.edu	37	7	53103781	53103781	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:53103781C>G	ENST00000408890.4	+	1	433	c.417C>G	c.(415-417)atC>atG	p.I139M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	139								p.I139M(1)|p.I139I(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTGACCATCGGGATCGCGC	0.716000													4	48					0	0	0.014758	0	0
PARD3B	117583	broad.mit.edu	37	2	205969185	205969185	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:205969185G>C	ENST00000406610.2	+	5	747	c.540G>C	c.(538-540)ttG>ttC	p.L180F	PARD3B_ENST00000351153.1_Missense_Mutation_p.L180F|PARD3B_ENST00000358768.2_Missense_Mutation_p.L180F|PARD3B_ENST00000462231.1_Missense_Mutation_p.L180F|PARD3B_ENST00000349953.3_Missense_Mutation_p.L180F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	180					cell cycle|cell division	endomembrane system|tight junction		p.L180F(2)|p.L181F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGAAGTTTTGAATGGTGTAC	0.333000													33	113					0	0	0.023175	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249821	140249821	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr5:140249821C>T	ENST00000398640.2	+	1	1133	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1												p.S378L(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCGTGACTCAGGTGTCAAC	0.587000													18	91					0	0	0.006122	0	0
PAMR1	25891	broad.mit.edu	37	11	35453913	35453913	+	Silent	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:35453913A>G	ENST00000378880.2	-	11	2599	c.2154T>C	c.(2152-2154)aaT>aaC	p.N718N	PAMR1_ENST00000532848.1_Silent_p.N678N|PAMR1_ENST00000278360.3_Silent_p.N735N|PAMR1_ENST00000378878.3_Silent_p.N607N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	718	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.N735N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TTCATTTCATATTTCTTTCAA	0.463000													6	61					0	0	0.001984	0	0
OR8J3	81168	broad.mit.edu	37	11	55904846	55904846	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:55904846C>A	ENST00000301529.1	-	1	348	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V117L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGGCCATCACAGCCAGCATC	0.488000													37	93					5.43694e-19	6.66973e-19	0.023175	1	0
RBM45	129831	broad.mit.edu	37	2	178981066	178981066	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:178981066G>A	ENST00000286070.5	+	2	470	c.378G>A	c.(376-378)atG>atA	p.M126I		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	126	RRM 2.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	p.M126I(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCTTTGTTATGATACCAAAGT	0.373000													29	159					0	0	0.007291	0	0
DSC2	1824	broad.mit.edu	37	18	28660165	28660165	+	Missense_Mutation	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:28660165G>T	ENST00000280904.6	-	10	1860	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	DSC2_ENST00000251081.6_Missense_Mutation_p.P473T	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	473	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P473T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTATTGGAGGGTTACACTCA	0.443000													24	126					7.76418e-22	9.60846e-22	0.027356	1	0
STAT3	6774	broad.mit.edu	37	17	40498730	40498730	+	Splice_Site	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:40498730C>T	ENST00000264657.5	-	3	442	c.128_splice	c.e3-1	p.A44_splice	STAT3_ENST00000404395.3_Splice_Site_p.A44_splice|STAT3_ENST00000389272.3_5'UTR|STAT3_ENST00000585517.1_Splice_Site_p.A44_splice|STAT3_ENST00000588969.1_Splice_Site_p.A44_splice	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	44					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.A44T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCGCATATGCCCTAGGAAAA	0.428000									Hyperimmunoglobulin E Recurrent Infection Syndrome				4	267					0	0	0.009096	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691237	10691237	+	Silent	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:10691237G>C	ENST00000302079.6	-	44	6995	c.6996C>G	c.(6994-6996)ctC>ctG	p.L2332L	PIEZO2_ENST00000503781.3_Silent_p.L2332L|PIEZO2_ENST00000580640.1_Silent_p.L2357L|PIEZO2_ENST00000538948.1_Silent_p.L289L|PIEZO2_ENST00000285141.4_Silent_p.L187L			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2332						integral to membrane	ion channel activity	p.L2332L(1)|p.L187L(1)									GGAATAAGAAGAGGTTGACGT	0.498000													43	75					0	0	0.014410	0	0
ZNF98	148198	broad.mit.edu	37	19	22574557	22574557	+	Missense_Mutation	SNP	C	C	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:22574557C>G	ENST00000357774.5	-	4	1601	c.1480G>C	c.(1480-1482)Gaa>Caa	p.E494Q		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E494Q(2)|p.E494*(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGCCACATTCTTCACATTTG	0.403000													4	74					0	0	0.009096	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714518	70714518	+	RNA	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:70714518G>C	ENST00000530196.1	-	0	0					NR_003951.1																						AGCAATGTTGGAAGTAAAAAT	0.458000													4	37					0	0	0.009096	0	0
USH2A	7399	broad.mit.edu	37	1	216420227	216420227	+	Missense_Mutation	SNP	G	G	A	rs142655448		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:216420227G>A	ENST00000366943.2	-	13	2895	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W	USH2A_ENST00000366942.3_Missense_Mutation_p.R837W|USH2A_ENST00000307340.3_Missense_Mutation_p.R837W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	837	Laminin EGF-like 6.				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.R837W(2)		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)		TTATTTTGCCGTAGGTAGAAG	0.453000										HNSCC(13;0.011)			5	209					0	0	0.014758	0	0
RBM14	10432	broad.mit.edu	37	11	66391877	66391877	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:66391877G>A	ENST00000310137.4	+	2	669	c.530G>A	c.(529-531)gGa>gAa	p.G177E	RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14_ENST00000409738.4_Intron|RBM14_ENST00000409372.1_3'UTR|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000461478.1_3'UTR|RBM14_ENST00000443702.1_3'UTR|RBM4_ENST00000503028.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	177					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	p.G177E(1)	RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCTTCCCTGGAACTGGTGGC	0.597000													21	33					0	0	0.012319	0	0
SAFB	6294	broad.mit.edu	37	19	5651059	5651059	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:5651059G>C	ENST00000292123.5	+	9	1376	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N	SAFB_ENST00000454510.1_Missense_Mutation_p.K354N|SAFB_ENST00000433404.1_Missense_Mutation_p.K253N|SAFB_ENST00000538656.1_Missense_Mutation_p.K266N|SAFB_ENST00000588852.1_Missense_Mutation_p.K423N|SAFB_ENST00000592224.1_Missense_Mutation_p.K423N|SAFB_ENST00000586934.1_3'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	423	RRM.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	p.K423N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAGATTTGAAGAATCTTTTCA	0.423000													14	40					0	0	0.016723	0	0
SMPD3	55512	broad.mit.edu	37	16	68405584	68405584	+	Silent	SNP	G	G	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr16:68405584G>T	ENST00000219334.5	-	3	1104	c.501C>A	c.(499-501)atC>atA	p.I167I	SMPD3_ENST00000568373.1_Silent_p.I167I|SMPD3_ENST00000563226.1_Silent_p.I167I	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	167					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.I167I(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGTAAATTTTGATCTGGGGCC	0.632000													4	51					0.00024832	0.000269386	0.009096	1	0
PACSIN1	29993	broad.mit.edu	37	6	34496627	34496627	+	Missense_Mutation	SNP	G	G	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr6:34496627G>C	ENST00000538621.1	+	4	674	c.429G>C	c.(427-429)caG>caC	p.Q143H	PACSIN1_ENST00000374043.2_Missense_Mutation_p.Q101H|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Missense_Mutation_p.Q143H	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	143					endocytosis		protein kinase activity	p.Q143H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCAAGGCCCAGAAGCCTTGGG	0.607000													46	33					0	0	0.014410	0	0
AQP1	358	broad.mit.edu	37	7	30963079	30963079	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:30963079G>A	ENST00000311813.4	+	4	700	c.645G>A	c.(643-645)ggG>ggA	p.G215G	AQP1_ENST00000409611.1_Silent_p.G164G|AQP1_ENST00000509504.1_Silent_p.G392G|AQP1_ENST00000441328.2_Silent_p.G132G|AQP1_ENST00000409899.1_Silent_p.G100G|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000434909.2_Silent_p.G275G	NM_198098.2	NP_932766.1			aquaporin 1									p.G132G(1)|p.G215G(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TCTGGGTGGGGCCATTCATCG	0.612000													10	69					0	0	0.008291	0	0
SPATA18	132671	broad.mit.edu	37	4	52928477	52928477	+	Missense_Mutation	SNP	A	A	C			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr4:52928477A>C	ENST00000295213.4	+	4	775	c.401A>C	c.(400-402)cAa>cCa	p.Q134P	SPATA18_ENST00000419395.2_Missense_Mutation_p.Q134P|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	134					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.Q134P(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACCCGGAGTCAATGCAACCAG	0.378000													5	137					0	0	0.014758	0	0
PTCD1	26024	broad.mit.edu	37	7	99022694	99022694	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:99022694G>A	ENST00000292478.4	-	6	1711	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I536I|PTCD1_ENST00000555673.1_Silent_p.I536I	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.I487I(1)|p.I487M(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGAGGGTCCTGATGTCGGGCT	0.647000													22	27					0	0	0.014323	0	0
HIC2	23119	broad.mit.edu	37	22	21800810	21800810	+	Silent	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr22:21800810C>T	ENST00000443632.2	+	2	1998	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	HIC2_ENST00000407464.2_Silent_p.F542F|HIC2_ENST00000407598.2_Silent_p.F542F			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	542					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	p.F542F(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCAAAATGTTCACGCAGCGCG	0.632000													16	35					0	0	0.028581	0	0
HOXB3	3213	broad.mit.edu	37	17	46629586	46629586	+	Missense_Mutation	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:46629586G>A	ENST00000470495.1	-	1	1698	c.251C>T	c.(250-252)tCg>tTg	p.S84L	HOXB3_ENST00000498678.1_Missense_Mutation_p.S84L|HOXB3_ENST00000476342.1_Missense_Mutation_p.S84L|HOXB3_ENST00000472863.1_Missense_Mutation_p.S11L|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Missense_Mutation_p.S11L|HOXB3_ENST00000311626.4_Missense_Mutation_p.S84L			P14651	HXB3_HUMAN	homeobox B3	84					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S84L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGGCGGGGCCGACAGGGGCTC	0.682000													36	70					0	0	0.015359	0	0
LACTB2	51110	broad.mit.edu	37	8	71556453	71556453	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr8:71556453C>T	ENST00000276590.4	-	4	475	c.439G>A	c.(439-441)Gat>Aat	p.D147N	LACTB2_ENST00000522447.1_Missense_Mutation_p.D147N|LACTB2_ENST00000517601.1_5'UTR|RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	147							hydrolase activity|metal ion binding	p.D147N(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ATGTGATCATCAGTGTGGCCA	0.363000													55	260					0	0	0.014410	0	0
NME2	4831	broad.mit.edu	37	17	49245626	49245626	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:49245626G>A	ENST00000555572.1	+	7	746	c.570G>A	c.(568-570)caG>caA	p.Q190Q	NME2_ENST00000376392.6_Silent_p.Q165Q|NME2_ENST00000393183.3_5'UTR|NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000393190.1_Silent_p.Q50Q|NME2_ENST00000393193.2_Silent_p.Q165Q|NME1-NME2_ENST00000514264.2_Silent_p.Q50Q|NME1-NME2_ENST00000513177.1_Silent_p.Q50Q|NME1-NME2_ENST00000512737.1_Silent_p.Q50Q|NME1-NME2_ENST00000503064.1_Silent_p.Q50Q|NME2_ENST00000393198.2_Silent_p.Q50Q					NME/NM23 nucleoside diphosphate kinase 2									p.Q165Q(1)|p.Q50Q(1)		endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ACCTGAAGCAGCACTACATTG	0.542000													6	110					0	0	0.001984	0	0
TSPAN19	144448	broad.mit.edu	37	12	85411261	85411261	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr12:85411261C>T	ENST00000532498.2	-	7	648	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	190						integral to membrane		p.E190K(1)		ovary(1)	1						TTCAGTGGCTCATCACAAAAC	0.318000													8	17					0	0	0.004482	0	0
ZNF521	25925	broad.mit.edu	37	18	22806029	22806029	+	Missense_Mutation	SNP	T	T	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr18:22806029T>G	ENST00000361524.3	-	4	2001	c.1853A>C	c.(1852-1854)aAg>aCg	p.K618T	ZNF521_ENST00000584787.1_Missense_Mutation_p.K398T|ZNF521_ENST00000538137.2_Missense_Mutation_p.K618T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	618					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.K618T(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGCATCATCTTAAGAGATGT	0.468000			T	PAX5	ALL								12	55					0	0	0.013537	0	0
OR51A4	401666	broad.mit.edu	37	11	4967632	4967632	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:4967632C>A	ENST00000380373.2	-	1	724	c.699G>T	c.(697-699)aaG>aaT	p.K233N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K233N(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAGCTGCTCCTTTTTGGATG	0.468000													33	50					8.16721e-17	9.76363e-17	0.010818	1	0
SNRNP200	23020	broad.mit.edu	37	2	96944390	96944390	+	Missense_Mutation	SNP	C	C	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr2:96944390C>A	ENST00000323853.5	-	38	5460	c.5383G>T	c.(5383-5385)Gac>Tac	p.D1795Y	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1795						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.D1795Y(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGCTCCAGGTCACTCAGGGTC	0.567000													25	55					1.64293e-13	1.92588e-13	0.018920	1	0
MROH9	80133	broad.mit.edu	37	1	170934337	170934337	+	Missense_Mutation	SNP	A	A	G			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:170934337A>G	ENST00000367759.4	+	7	575	c.421A>G	c.(421-423)Aga>Gga	p.R141G	MROH9_ENST00000367758.3_Missense_Mutation_p.R141G	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9									p.R141G(2)									TCTGCAAGAGAGAATAATGGT	0.363000													30	151					0	0	0.017118	0	0
NUMA1	4926	broad.mit.edu	37	11	71727042	71727042	+	Silent	SNP	G	G	A			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:71727042G>A	ENST00000393695.3	-	15	1838	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.L503L|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	503					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.L503L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGAGGTCAGAGAGGCCACC	0.612000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	116					0	0	0.028581	0	0
CARD11	84433	broad.mit.edu	37	7	2946328	2946328	+	Missense_Mutation	SNP	C	C	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:2946328C>T	ENST00000396946.4	-	25	3812	c.3409G>A	c.(3409-3411)Gac>Aac	p.D1137N		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1137	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.D1130N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGATCTTGTCCTTGACAACG	0.662000			Mis		DLBCL								8	74					0	0	0.004482	0	0
MRPL37	51253	broad.mit.edu	37	1	54666245	54666246	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr1:54666245_54666246insT	ENST00000605337.1	+	1	377_378	c.329_330insT	c.(328-330)ctgfs	p.L110fs	MRPL37_ENST00000360840.5_Frame_Shift_Ins_p.L110fs|MRPL37_ENST00000336230.6_Frame_Shift_Ins_p.C80fs|MRPL37_ENST00000487096.1_Intron			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	110					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TTTCACCACCGTTGCCGCCTTC	0.624													17	45	---	---	---	---					
LRRC3B	116135	broad.mit.edu	37	3	26751187	26751187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr3:26751187delA	ENST00000396641.2	+	2	616	c.24delA	c.(22-24)ttfs	p.L8fs	LRRC3B_ENST00000417744.1_Frame_Shift_Del_p.L8fs|LRRC3B_ENST00000456208.2_Frame_Shift_Del_p.L8fs	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	8						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ACCTGTGGTTAACCCGTTCCC	0.473													13	187	---	---	---	---					
FSCN3	29999	broad.mit.edu	37	7	127235473	127235473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr7:127235473delG	ENST00000265825.5	+	2	476	c.257delG	c.(256-258)ccfs	p.R86fs	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	86						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGTTATGGCCGCCCAAGGACC	0.557													22	30	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17164803	17164803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr10:17164803delC	ENST00000377833.4	-	6	649	c.584delG	c.(583-585)gafs	p.G195fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	195	EGF-like 2; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGTAACTTCCCATTGTATT	0.373													10	41	---	---	---	---					
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr11:108788635_108788637delTGA	ENST00000526794.1	+	17	2372_2374	c.2340_2342delTGA	c.(2338-2343)agt>ag	p.SD780del	DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*								8	105	---	---	---	---					
PACS2	23241	broad.mit.edu	37	14	105814832	105814840	+	In_Frame_Del	DEL	TGTGCAGCC	TGTGCAGCC	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr14:105814832_105814840delTGTGCAGCC	ENST00000447393.1	+	2	297_305	c.122_130delTGTGCAGCC	c.(121-132)ttg>t	p.LCSL41del	PACS2_ENST00000547217.1_In_Frame_Del_p.LCSL41del|PACS2_ENST00000430725.2_5'UTR|PACS2_ENST00000325438.8_In_Frame_Del_p.LCSL41del|PACS2_ENST00000458164.2_In_Frame_Del_p.LCSL41del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	41					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCTCACAGGTTGTGCAGCCTGACTCTGAA	0.646													10	78	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													2	4	---	---	---	---					
EPN2	22905	broad.mit.edu	37	17	19216480	19216480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr17:19216480delC	ENST00000314728.5	+	7	1519	c.1035delC	c.(1033-1035)ggfs	p.G345fs	EPN2_ENST00000347697.2_Frame_Shift_Del_p.G288fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.G281fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.G60fs|EPN2_ENST00000395626.1_Frame_Shift_Del_p.G345fs|EPN2_ENST00000575595.1_Frame_Shift_Del_p.G53fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.G288fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	345					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CCAGCTCGGGCCCCGCGGCCC	0.602													37	99	---	---	---	---					
NFIC	4782	broad.mit.edu	37	19	3434378	3434382	+	Frame_Shift_Del	DEL	GCCCA	GCCCA	-			TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr19:3434378_3434382delGCCCA	ENST00000589123.1	+	5	906_910	c.786_790delGCCCA	c.(784-792)ctgcfs	p.LPS262fs	NFIC_ENST00000346156.5_Frame_Shift_Del_p.LPS238fs|NFIC_ENST00000341919.3_Frame_Shift_Del_p.LPS271fs|NFIC_ENST00000586919.1_Frame_Shift_Del_p.LPS238fs|NFIC_ENST00000590282.1_Frame_Shift_Del_p.LPS271fs|NFIC_ENST00000395111.3_Frame_Shift_Del_p.LPS262fs|NFIC_ENST00000443272.2_Frame_Shift_Del_p.LPS271fs	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	271					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GAAGAACGCTGCCCAGCACCTCCTC	0.615													22	27	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085681	11085683	+	RNA	DEL	ACT	ACT	-	rs144065331		TCGA-49-6742-01A-11D-1855-08	TCGA-49-6742-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49dec0c2-8e75-4f44-a253-82b2ea605890	f09f9865-726d-41bd-b206-b8fae7d4a81b	g.chr21:11085681_11085683delACT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccatcaccactaccaccacca	0.596													2	4	---	---	---	---