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
EPHA6	285220	broad.mit.edu	37	3	96706829	96706829	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:96706829C>T	ENST00000389672.5	+	3	1144	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F	EPHA6_ENST00000470610.2_Missense_Mutation_p.S369F|EPHA6_ENST00000542517.1_Missense_Mutation_p.S275F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	274	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTGAGGGTTCTTGCCATGGT	0.328000													6	35					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51915088	51915088	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:51915088G>C	ENST00000371117.3	-	22	2421	c.2146C>G	c.(2146-2148)Caa>Gaa	p.Q716E	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q716E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	716					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAATCAGCTTGAGAAACTAGA	0.512000											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748152	41748152	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:41748152G>T	ENST00000226382.2	-	3	976	c.617C>A	c.(616-618)cCc>cAc	p.P206H		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	206					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CCCGCAGCTGGGGGTGGGGTT	0.736000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				34	30					4.65686e-17	5.05832e-17	1	1	0
ZNF787	126208	broad.mit.edu	37	19	56614418	56614418	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:56614418G>A	ENST00000587279.1	-	2	257	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	ZNF787_ENST00000270459.3_Intron			Q6DD87	ZN787_HUMAN	zinc finger protein 787	0	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GGAAAACAGGGAAGGGGGGTT	0.677000													5	16					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122630833	122630833	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:122630833G>C	ENST00000263461.6	+	10	1692	c.1446G>C	c.(1444-1446)aaG>aaC	p.K482N		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	482						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAAACATCAAGATGTATCAGC	0.428000													22	106					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74617145	74617145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:74617145C>T	ENST00000253159.8	+	13	2263	c.2065C>T	c.(2065-2067)Cag>Tag	p.Q689*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q691*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	689					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAAATGTTCTCAGTGTGGAAG	0.348000													7	52					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133902051	133902051	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:133902051C>T	ENST00000395003.1	+	9	1394	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	PHF15_ENST00000361895.2_Silent_p.Y405Y|PHF15_ENST00000282605.4_Silent_p.Y405Y|PHF15_ENST00000402835.1_Silent_p.Y405Y	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		405					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGACTTCTACGAGCTGGTGG	0.617000													12	48					0	0	1	0	0
LEO1	123169	broad.mit.edu	37	15	52246701	52246701	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr15:52246701C>G	ENST00000299601.5	-	7	1377	c.1317G>C	c.(1315-1317)cgG>cgC	p.R439R	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	439					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		ACTTGACTATCCGAGCATTGC	0.393000													12	53					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71258051	71258051	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:71258051G>T	ENST00000373290.2	+	5	591	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	157						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						GTGCTGTGGCGGGGAGGACTA	0.622000													23	21					1.37878e-21	1.50879e-21	1	1	0
MUC4	4585	broad.mit.edu	37	3	195515644	195515644	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:195515644G>A	ENST00000463781.3	-	2	3266	c.2807C>T	c.(2806-2808)cCa>cTa	p.P936L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P936L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	941	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGTGTGGGTGGGACTGTTGA	0.572000													16	24					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454070	37454070	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:37454070C>G	ENST00000374660.1	+	18	1982	c.1883C>G	c.(1882-1884)tCt>tGt	p.S628C	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S628C|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S628C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	684						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGAAAATTCTTGGGATACT	0.308000													25	116					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877465	27877465	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:27877465C>G	ENST00000374011.2	-	6	2130	c.1162G>C	c.(1162-1164)Gat>Cat	p.D388H	AHDC1_ENST00000247087.5_Missense_Mutation_p.D388H	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	388	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTTGGCCTATCAGTGCGCCGC	0.716000													3	9					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102482234	102482234	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:102482234G>A	ENST00000360184.4	+	36	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2428	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGTACTTCACGTCCAACGGCC	0.532000													21	28					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160281792	160281792	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:160281792C>G	ENST00000241704.7	-	11	1171	c.942G>C	c.(940-942)atG>atC	p.M314I	COPA_ENST00000368069.3_Missense_Mutation_p.M314I	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	314					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAAACACAATCATACCACCAT	0.453000													3	38					0	0	1	0	0
WFDC12	128488	broad.mit.edu	37	20	43752899	43752899	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:43752899C>G	ENST00000372785.3	-	2	104	c.87G>C	c.(85-87)gaG>gaC	p.E29D		NM_080869.1	NP_543145.1	Q8WWY7	WFD12_HUMAN	WAP four-disulfide core domain 12	29	WAP.				defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CCCCTGCTTTCTCTATACCTA	0.582000													10	75					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805940	169805940	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:169805940G>A	ENST00000274629.4	-	4	786	c.344C>T	c.(343-345)aCg>aTg	p.T115M	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	115					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GGCCCGGGCCGTCTGGTAATT	0.567000													8	30					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			30	29					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24646675	24646675	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:24646675G>A	ENST00000311457.3	+	11	1338	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	REC8_ENST00000559919.1_Missense_Mutation_p.E247K			O95072	REC8_HUMAN	REC8 meiotic recombination protein	248	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCTCAGGGTGGAAGGAATAGG	0.597000													9	111					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54263498	54263498	+	Missense_Mutation	SNP	C	C	T	rs149043219	byFrequency	TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:54263498C>T	ENST00000354646.2	-	20	4939	c.4501G>A	c.(4501-4503)Gaa>Aaa	p.E1501K	WNK3_ENST00000375159.2_Missense_Mutation_p.E1501K|WNK3_ENST00000375169.3_Missense_Mutation_p.E1454K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1454					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.E1501K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTTGTTCTTCGTGGTGTGGT	0.453000													28	63					0	0	1	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51808028	51808028	+	RNA	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:51808028C>T	ENST00000456967.1	-	0	1824					NR_038275.1																						CTTTTGCTTTCTCTTCTCTCT	0.453000													31	131					0	0	1	0	0
ZNF780B	163131	broad.mit.edu	37	19	40542306	40542306	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:40542306G>A	ENST00000434248.1	-	5	525	c.460C>T	c.(460-462)Cat>Tat	p.H154Y	ZNF780B_ENST00000221355.6_Missense_Mutation_p.H6Y	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGAGAAGCATGAGTATAAGCA	0.358000													5	52					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008120	65008120	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:65008120G>A	ENST00000247207.6	+	1	935	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Missense_Mutation_p.G185S	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	185					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGCCTACGGCCTGGACAA	0.647000													31	60					0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879657	1879657	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:1879657C>T	ENST00000505790.1	-	5	1153	c.697G>A	c.(697-699)Gag>Aag	p.E233K	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.E233K|IRX4_ENST00000231357.2_Missense_Mutation_p.E233K	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	233					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcccgcgcctcctcctcgccc	0.662000													7	22					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159464642	159464642	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:159464642C>T	ENST00000367066.3	-	4	458	c.127G>A	c.(127-129)Gac>Aac	p.D43N	TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Missense_Mutation_p.D43N	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	43					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CAAATACTGTCTTCACTCTCA	0.378000													21	172					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703658	4703658	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:4703658G>A	ENST00000396950.3	-	2	523	c.284C>T	c.(283-285)gCc>gTc	p.A95V		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTAAGACAGGCCTCAAAGCT	0.512000													6	31					0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15844681	15844681	+	Missense_Mutation	SNP	C	C	G	rs2020897		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:15844681C>G	ENST00000546424.1	-	2	586	c.342G>C	c.(340-342)gaG>gaC	p.E114D	CASP9_ENST00000375890.4_Missense_Mutation_p.E31D|CASP9_ENST00000348549.5_Missense_Mutation_p.E114D|CASP9_ENST00000333868.5_Missense_Mutation_p.E114D|CASP9_ENST00000469637.1_5'UTR			P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	114			E -> D (in dbSNP:rs2020897).		activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GTTTGCGAATCTCTGGTCTGA	0.512000													14	45					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33989416	33989416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:33989416C>A	ENST00000335606.6	-	5	1019	c.931G>T	c.(931-933)Gaa>Taa	p.E311*	RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000502637.1_Nonsense_Mutation_p.E296*|AMACR_ENST00000382085.3_Nonsense_Mutation_p.E311*|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	311					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GAGCCCCGTTCCTTGTTGTGA	0.532000													13	88					6.72482e-11	7.14614e-11	1	1	0
ZNF233	353355	broad.mit.edu	37	19	44777969	44777969	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:44777969G>A	ENST00000391958.2	+	5	1283	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	ZNF233_ENST00000334152.1_Missense_Mutation_p.D368N|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTTAGATTTTGACATTCACTG	0.468000													11	45					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23818517	23818517	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:23818517G>A	ENST00000354772.3	-	4	993	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.L164L|SLC22A17_ENST00000206544.8_Silent_p.L164L|SLC22A17_ENST00000397260.3_Silent_p.L53L	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	164					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGGCAAGCAGAAAGCCCAAG	0.627000													18	39					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528313	157528313	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:157528313G>T	ENST00000346085.5	+	20	6039	c.6038G>T	c.(6037-6039)tGg>tTg	p.W2013L	ARID1B_ENST00000350026.5_Missense_Mutation_p.W2000L|ARID1B_ENST00000275248.4_Missense_Mutation_p.W1995L|ARID1B_ENST00000367148.1_Missense_Mutation_p.W2053L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2000					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGAGTGGTGGTGGGACTGC	0.547000													30	38					6.38683e-12	6.85302e-12	1	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47241449	47241449	+	Splice_Site	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:47241449G>C	ENST00000300404.2	+	8	1005		c.e8-1		B4GALNT2_ENST00000504681.1_Splice_Site|B4GALNT2_ENST00000393354.2_Splice_Site	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2						lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTCTGCCCAGAGAGGAAGCT	0.493000													25	102					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220142229	220142229	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:220142229G>A	ENST00000366923.3	-	32	4727	c.4458C>T	c.(4456-4458)ctC>ctT	p.L1486L	EPRS_ENST00000468487.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1486	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GCAGTTCACAGAGTGGTTTGA	0.478000													13	86					0	0	1	0	0
LY86	9450	broad.mit.edu	37	6	6626528	6626528	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:6626528G>C	ENST00000379953.2	+	4	578	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	LY86_ENST00000230568.4_Missense_Mutation_p.E76Q			O95711	LY86_HUMAN	lymphocyte antigen 86	76					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TCCTCCAGGAGAGGACATCAA	0.448000													20	81					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184368296	184368296	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:184368296G>C	ENST00000504169.1	+	3	1666	c.1459G>C	c.(1459-1461)Gaa>Caa	p.E487Q	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	487	DRBM.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	p.E487*(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCCACTAAAAGAATTGGCAGA	0.418000													13	95					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39882143	39882143	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr15:39882143C>G	ENST00000260356.5	+	13	2229	c.2064C>G	c.(2062-2064)atC>atG	p.I688M		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	688	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ATGGCATCATCTGCGGGGAGG	0.572000													3	8					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492444	107492444	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:107492444G>C	ENST00000415149.2	+	11	2203	c.1876G>C	c.(1876-1878)Gag>Cag	p.E626Q	BBX_ENST00000406780.1_Missense_Mutation_p.E626Q|BBX_ENST00000402543.1_Missense_Mutation_p.E626Q|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.E626Q	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CCTGGTGTCTGAGGGCATGCT	0.428000													6	42					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999223	27999223	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:27999223C>T	ENST00000441525.1	-	1	343	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	77	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCGACGTCTTCACTTGAACTT	0.488000													17	46					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245180	59245180	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:59245180C>T	ENST00000530162.1	+	1	335	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGACCATCTCCTTCAATCAT	0.423000													16	61					0	0	1	0	0
RRP15	51018	broad.mit.edu	37	1	218475677	218475677	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:218475677G>A	ENST00000366932.3	+	2	211	c.181G>A	c.(181-183)Gac>Aac	p.D61N	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	61						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		TTCTGATGATGACGCAATAGA	0.428000													14	85					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70605608	70605608	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:70605608C>G	ENST00000302516.5	+	26	3757	c.3546C>G	c.(3544-3546)ttC>ttG	p.F1182L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1182					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GTGAGCAGTTCAATTCCATGG	0.453000													17	68					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36424864	36424864	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:36424864G>A	ENST00000379892.4	-	7	1296	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000255448.4_Intron|DCLK1_ENST00000360631.3_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTTTACACTGAGTCTCCTAC	0.428000													11	54					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26507020	26507020	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:26507020C>T	ENST00000244513.6	+	4	885	c.819C>T	c.(817-819)aaC>aaT	p.N273N		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	273						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GACTATACAACGAAAGACCCA	0.493000													109	122					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173808556	173808556	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:173808556G>A	ENST00000361951.4	+	10	1619	c.892G>A	c.(892-894)Gag>Aag	p.E298K	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	298					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAGTTTAATTGAGGGTTTGCT	0.418000													18	91					0	0	1	0	0
LYPD1	116372	broad.mit.edu	37	2	133425998	133425998	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:133425998C>T	ENST00000397463.2	-	2	437	c.165G>A	c.(163-165)caG>caA	p.Q55Q	LYPD1_ENST00000345008.6_Silent_p.Q3Q	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	55	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						TCACTTCTTTCTGACACATGT	0.537000													8	22					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129361727	129361727	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:129361727C>G	ENST00000370978.4	-	11	1330	c.1177G>C	c.(1177-1179)Gaa>Caa	p.E393Q		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCTCTGTTTCAAATGATAAT	0.313000													9	36					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115216575	115216575	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:115216575C>T	ENST00000369538.3	-	13	2063	c.2016G>A	c.(2014-2016)atG>atA	p.M672I	AMPD1_ENST00000520113.2_Missense_Mutation_p.M676I|AMPD1_ENST00000353928.6_Missense_Mutation_p.M643I	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	643					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	ACAGTGAGATCATTAGCCCTT	0.408000													9	73					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21995343	21995343	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:21995343C>T	ENST00000261200.4	-	27	3377	c.3378G>A	c.(3376-3378)ggG>ggA	p.G1126G	ABCC9_ENST00000261201.4_Silent_p.G1126G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.G1090G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1126	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGAAATCATCCCAATGGCAG	0.443000													12	54					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528732	157528732	+	Nonsense_Mutation	SNP	A	A	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:157528732A>T	ENST00000346085.5	+	20	6458	c.6457A>T	c.(6457-6459)Aaa>Taa	p.K2153*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.K2140*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.K2135*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.K2193*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2140					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCTGTGCAGAAAGGAAGCAT	0.552000													99	90					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528731	157528731	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:157528731G>C	ENST00000346085.5	+	20	6457	c.6456G>C	c.(6454-6456)caG>caC	p.Q2152H	ARID1B_ENST00000350026.5_Missense_Mutation_p.Q2139H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q2134H|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q2192H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2139					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TAGCTGTGCAGAAAGGAAGCA	0.547000													101	93					0	0	1	0	0
FUT5	2527	broad.mit.edu	37	19	5866613	5866613	+	Nonstop_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:5866613C>G	ENST00000252675.5	-	5	1686	c.1124G>C	c.(1123-1125)tGa>tCa	p.*375S	FUT5_ENST00000588525.1_Nonstop_Mutation_p.*375S			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	0					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GCCGGCCTCTCAGGTGAACCA	0.632000													8	34					0	0	1	0	0
NUDT9	53343	broad.mit.edu	37	4	88356158	88356158	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:88356158C>T	ENST00000302174.4	+	2	457	c.133C>T	c.(133-135)Cat>Tat	p.H45Y	NUDT9_ENST00000473942.1_5'UTR	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	45						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTCTTGGTTTCATCTTAATAC	0.373000													10	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070793	9070793	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:9070793G>C	ENST00000397910.4	-	3	16856	c.16653C>G	c.(16651-16653)ctC>ctG	p.L5551L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5553	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGGTGAAGAGCCTGGTGA	0.512000													26	74					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195740	207195740	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:207195740G>C	ENST00000359470.5	-	4	1618	c.1369C>G	c.(1369-1371)Cca>Gca	p.P457A	C1orf116_ENST00000461135.2_Missense_Mutation_p.P211A	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	457						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GGCTTCGGTGGAGTCAGGGCA	0.552000													12	37					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13731836	13731836	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:13731836G>C	ENST00000383314.2	+	3	560	c.320G>C	c.(319-321)aGa>aCa	p.R107T	RNMT_ENST00000535051.1_Intron|RNMT_ENST00000589866.1_Missense_Mutation_p.R107T|RNMT_ENST00000592764.1_Missense_Mutation_p.R107T|RNMT_ENST00000543302.2_Missense_Mutation_p.R107T|RNMT_ENST00000262173.3_Missense_Mutation_p.R107T			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	107					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AAAAGAAAAAGAGAAACTGAG	0.378000													10	44					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230488	7230488	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:7230488G>A	ENST00000379938.2	+	10	2693	c.2156G>A	c.(2155-2157)cGc>cAc	p.R719H	RREB1_ENST00000379933.3_Missense_Mutation_p.R719H|RREB1_ENST00000349384.6_Missense_Mutation_p.R719H|RREB1_ENST00000334984.6_Missense_Mutation_p.R719H	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	719					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGGCACCTGCGCAAGAAGCAC	0.617000													13	32					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65105799	65105799	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:65105799C>T	ENST00000358691.5	-	29	4088	c.3922G>A	c.(3922-3924)Gat>Aat	p.D1308N	HELZ_ENST00000580168.1_Missense_Mutation_p.D1309N	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GATTCCAAATCAACCTAGAAA	0.383000													9	61					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285873	48285873	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:48285873C>T	ENST00000320048.1	+	1	461	c.461C>T	c.(460-462)tCt>tTt	p.S154F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTGCTGCATTCTGTTGGGCAA	0.567000													8	31					0	0	1	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	8064508	8064508	+	Silent	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:8064508G>T	ENST00000439343.2	-	1	89	c.90C>A	c.(88-90)ctC>ctA	p.L30L	BLOC1S5_ENST00000397457.2_Silent_p.L34L|EEF1E1-BLOC1S5_ENST00000397456.2_Intron|BLOC1S5_ENST00000543936.1_5'UTR																							CCTTGATAATGAGGTGCGCTG	0.672000													3	14					6.4e-05	6.58047e-05	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77246776	77246776	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:77246776G>T	ENST00000329101.4	+	9	2638	c.2582G>T	c.(2581-2583)cGc>cTc	p.R861L	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.R874L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.R402L|NFATC1_ENST00000253506.5_Intron	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	874	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCACGGGCCGCCCGCAGCAC	0.721000													8	13					1.06961e-07	1.12043e-07	1	1	0
PKLR	5313	broad.mit.edu	37	1	155271123	155271123	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:155271123C>G	ENST00000342741.4	-	1	102	c.64G>C	c.(64-66)Gac>Cac	p.D22H		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	22					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTTGCTAAGTCTCTTTGGGAC	0.527000													16	79					0	0	1	0	0
RNMT	8731	broad.mit.edu	37	18	13731756	13731756	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:13731756G>T	ENST00000383314.2	+	3	480	c.240G>T	c.(238-240)aaG>aaT	p.K80N	RNMT_ENST00000535051.1_Intron|RNMT_ENST00000589866.1_Missense_Mutation_p.K80N|RNMT_ENST00000592764.1_Missense_Mutation_p.K80N|RNMT_ENST00000543302.2_Missense_Mutation_p.K80N|RNMT_ENST00000262173.3_Missense_Mutation_p.K80N			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	80					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						CTCCATCCAAGAAGAGAAAAC	0.383000													11	50					2.68362e-12	2.89359e-12	1	1	0
TUBG1	7283	broad.mit.edu	37	17	40764451	40764451	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:40764451G>C	ENST00000251413.3	+	5	468	c.406G>C	c.(406-408)Gtg>Ctg	p.V136L		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	136					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GCAGGGCTTTGTGCTGTGTCA	0.502000													35	153					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501535	6501535	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:6501535C>T	ENST00000264071.2	-	2	528	c.157G>A	c.(157-159)Gag>Aag	p.E53K	TUBB4A_ENST00000540257.1_Missense_Mutation_p.E53K|TUBB4A_ENST00000601152.1_Silent_p.T27T|TUBB4A_ENST00000596926.1_Missense_Mutation_p.E53K|TUBB4A_ENST00000598006.1_Silent_p.T38T			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	53					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CCTGTGGCCTCGTTGTAGTAC	0.592000													8	46					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416533	113416533	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:113416533G>A	ENST00000272542.3	+	7	1449	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	304					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GGTAGGGCCTGCCACTGTGCC	0.468000													20	55					0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243188	23243188	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:23243188G>A	ENST00000397532.3	-	9	1908	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.I461I|SLC7A7_ENST00000555702.1_Silent_p.I461I|SLC7A7_ENST00000285850.7_Silent_p.I461I|SLC7A7_ENST00000397528.4_Silent_p.I461I|SLC7A7_ENST00000554517.1_Silent_p.I195I			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	461					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTGGCACTCTGATGATGAGGA	0.512000													11	101					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30128280	30128280	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:30128280G>A	ENST00000484663.1	-	6	1743	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	MAPK3_ENST00000403394.1_Missense_Mutation_p.R318W|MAPK3_ENST00000395200.1_Missense_Mutation_p.R250W|MAPK3_ENST00000395199.3_Missense_Mutation_p.R318W|MAPK3_ENST00000395202.1_Missense_Mutation_p.R274W|MAPK3_ENST00000263025.4_Missense_Mutation_p.R318W|MAPK3_ENST00000322266.5_Missense_Mutation_p.R274W			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	318	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	ACTGTGATCCGTTTATTGGGG	0.607000													67	73					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60903564	60903564	+	Nonstop_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:60903564C>G	ENST00000321731.3	-	18	1922	c.1763G>C	c.(1762-1764)tGa>tCa	p.*588S		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	0										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATGACTAGCTCAAAAAAAAGT	0.289000													88	42					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37036036	37036036	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:37036036C>G	ENST00000379242.3	+	15	2113	c.1811C>G	c.(1810-1812)tCc>tGc	p.S604C	VIT_ENST00000379241.3_Missense_Mutation_p.S567C|VIT_ENST00000497382.1_Missense_Mutation_p.S258C|VIT_ENST00000404084.1_Missense_Mutation_p.S541C|VIT_ENST00000401530.1_Missense_Mutation_p.S568C|VIT_ENST00000389975.3_Missense_Mutation_p.S589C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	589	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTCAAGAAGTCCAAGCCCAAC	0.587000													8	71					0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74533462	74533462	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:74533462C>T	ENST00000553458.1	-	9	1268	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Silent_p.V377V|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_Silent_p.V107V	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	390						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	CATAGCCTTTCACTTTAATTT	0.428000													16	99					0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29676226	29676226	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:29676226G>A	ENST00000360121.3	+	2	1269	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	SPN_ENST00000395389.2_Missense_Mutation_p.E393K	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	393					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						TGATGAGCCCGAAGGGGGAGA	0.647000													3	18					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81340800	81340800	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:81340800C>A	ENST00000222390.5	-	12	1667	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	HGF_ENST00000457544.2_Missense_Mutation_p.D476Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	481					epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACTTACGGTCTAAATTGACT	0.274000													5	18					0.0293803	0.0293803	1	1	0
CXXC4	80319	broad.mit.edu	37	4	105412051	105412051	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:105412051C>T	ENST00000394767.2	-	2	1359	c.909G>A	c.(907-909)aaG>aaA	p.K303K	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000426831.1_Silent_p.K134K|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	134					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTTTCCTCTTCTTCTTGGCTG	0.582000													17	77					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22112195	22112195	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:22112195G>C	ENST00000379374.4	+	7	1392	c.827G>C	c.(826-828)aGa>aCa	p.R276T	PHEX_ENST00000537599.1_Missense_Mutation_p.R276T|PHEX_ENST00000535894.1_Missense_Mutation_p.R179T|PHEX_ENST00000475778.1_3'UTR	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	276					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCAGTGCTCAGATTGGAAATT	0.383000													16	26					0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50281502	50281502	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:50281502C>T	ENST00000298310.5	-	17	2100	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	NEMF_ENST00000546046.1_Missense_Mutation_p.E551K|NEMF_ENST00000545773.1_Missense_Mutation_p.E509K|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	551						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ACAATTATTTCATTCTGTTGC	0.308000													27	18					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151946985	151946985	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:151946985C>G	ENST00000355193.2	-	13	2007	c.1789G>C	c.(1789-1791)Gac>Cac	p.D597H	KMT2C_ENST00000262189.6_Missense_Mutation_p.D597H					lysine (K)-specific methyltransferase 2C																		CTATCTGTGTCAAGACTTTCT	0.358000													13	39					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942751	10942751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr21:10942751G>T	ENST00000298232.7	-	12	1003	c.636C>A	c.(634-636)taC>taA	p.Y212*	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Nonsense_Mutation_p.Y230*|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y192*	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	230					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CATCCCTTGTGTATCGCCTTT	0.313000													24	253					4.22769e-11	4.51432e-11	1	1	0
GOPC	57120	broad.mit.edu	37	6	117923233	117923233	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:117923233C>T	ENST00000535237.1	-	1	448	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GOPC_ENST00000052569.6_Silent_p.L73L|GOPC_ENST00000368498.2_Silent_p.L73L					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		AGCAGGAGCTCAGGCTGGTCA	0.542000			O	ROS1	glioblastoma						OREG0017633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	43					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261497	131261497	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:131261497C>T	ENST00000512055.1	-	19	3569	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	CPNE4_ENST00000511604.1_Silent_p.Q481Q|CPNE4_ENST00000429747.1_Silent_p.Q481Q|CPNE4_ENST00000512332.1_Silent_p.Q499Q|CPNE4_ENST00000502818.1_Silent_p.Q499Q			Q96A23	CPNE4_HUMAN	copine IV	481	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CGTCCAGCATCTGCATGTCAC	0.557000													14	75					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117152348	117152348	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:117152348G>T	ENST00000530849.1	+	9	814	c.804G>T	c.(802-804)agG>agT	p.R268S	RNF214_ENST00000300650.4_Missense_Mutation_p.R423S|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531452.1_Missense_Mutation_p.R423S|RNF214_ENST00000531287.1_Missense_Mutation_p.R268S			Q8ND24	RN214_HUMAN	ring finger protein 214	423							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AGTTAGTGAGGAACGGAGCCA	0.453000													28	142					2.20262e-25	2.41631e-25	1	1	0
ZNF555	148254	broad.mit.edu	37	19	2853586	2853586	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:2853586A>G	ENST00000334241.4	+	4	1661	c.1523A>G	c.(1522-1524)tAt>tGt	p.Y508C	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.Y507C	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAACTCTATAAATGCAAG	0.408000													29	76					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67836236	67836236	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:67836236G>A	ENST00000255674.6	-	12	1830	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F	RTTN_ENST00000437017.1_Missense_Mutation_p.S515F|RTTN_ENST00000454359.1_Missense_Mutation_p.S515F	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	515							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATATTCCAAAGAAATAGGCAT	0.343000													13	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437255	179437255	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:179437255G>C	ENST00000589042.1	-	326	73828	c.73604C>G	c.(73603-73605)tCt>tGt	p.S24535C	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15470C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15662C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21967C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22894C|TTN_ENST00000359218.5_Missense_Mutation_p.S15595C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22894	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTGTGACAGATGTCTTAGT	0.428000													7	35					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925653	47925653	+	Splice_Site	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:47925653C>G	ENST00000289672.2	-	18	2887		c.e18-1			NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1						cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGAAGGGAACTTAAGCAAAC	0.428000													8	34					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482131	140482131	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:140482131G>A	ENST00000231130.2	+	1	1898	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGCGAGCGCGACGCGGCC	0.697000													21	40					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20029064	20029064	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:20029064C>A	ENST00000377340.2	-	5	892	c.861G>T	c.(859-861)atG>atT	p.M287I	CRNKL1_ENST00000536226.1_Missense_Mutation_p.M126I|CRNKL1_ENST00000377327.4_Missense_Mutation_p.M275I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	287					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GGCGATTCTTCATTTCCATTT	0.433000													11	74					0.00829132	0.00836721	1	1	0
CPSF6	11052	broad.mit.edu	37	12	69656252	69656252	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:69656252G>A	ENST00000551516.1	+	3	82	c.77G>A	c.(76-78)aGa>aAa	p.R26K	CPSF6_ENST00000435070.2_Silent_p.E523E|CPSF6_ENST00000456847.3_Silent_p.E450E|CPSF6_ENST00000266679.8_Silent_p.E560E			Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	410					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTACAGAGAGAGAAGCAGAG	0.512000													8	53					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151262905	151262905	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:151262905C>T	ENST00000368879.2	+	8	3234	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TCTCCCATTTCAGGTATTGCA	0.627000													17	50					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574136	136574136	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:136574136C>G	ENST00000446465.2	+	2	1462	c.834C>G	c.(832-834)atC>atG	p.I278M	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.I278M	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	278	DUF6 2.					Golgi apparatus|integral to membrane											ACAGATCCATCAAGGAGAAGA	0.423000													126	145					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31487420	31487420	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:31487420G>C	ENST00000394863.3	+	8	932	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.E251Q|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.E251Q|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.E251Q	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	268	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CAGCTTCTTCGAGAAGGATGG	0.662000													11	65					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737316	248737316	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:248737316G>C	ENST00000328782.2	-	1	764	c.743C>G	c.(742-744)tCc>tGc	p.S248C		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATCATGTGGGAGGAGCAGGT	0.567000													15	91					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1983519	1983519	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:1983519G>A	ENST00000399161.2	-	6	778	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	MYT1L_ENST00000428368.2_Missense_Mutation_p.R11C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	11					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCGCGTGCGATGCCGCTTC	0.612000													13	48					0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49280215	49280215	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:49280215C>T	ENST00000586178.1	-	10	1253	c.910G>A	c.(910-912)Gta>Ata	p.V304I	MBTD1_ENST00000415868.1_Missense_Mutation_p.V304I|MBTD1_ENST00000376381.2_Missense_Mutation_p.V304I	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	304					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ACCACTGCTACTCGTGTTCGA	0.408000													164	69					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680444	128680444	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:128680444G>A	ENST00000527786.2	+	9	1409	c.920G>A	c.(919-921)gGg>gAg	p.G307E	FLI1_ENST00000534087.2_Missense_Mutation_p.G274E|FLI1_ENST00000525560.1_Missense_Mutation_p.G114E|FLI1_ENST00000344954.6_Missense_Mutation_p.G274E|FLI1_ENST00000281428.8_Missense_Mutation_p.G241E	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGGACCAACGGGGAGTTCAAA	0.632000			T	EWSR1	Ewing sarcoma								3	9					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20859211	20859211	+	Silent	SNP	C	C	T	rs34817105	byFrequency	TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:20859211C>T	ENST00000262715.5	-	14	2182	c.2142G>A	c.(2140-2142)acG>acA	p.T714T	TEP1_ENST00000556935.1_Silent_p.T606T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	714					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCTCCGCCCTCGTGATCATCA	0.537000													31	81					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46622154	46622154	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:46622154C>T	ENST00000330070.4	-	1	1287	c.120G>A	c.(118-120)tcG>tcA	p.S40S	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	40					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S40S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GAATTAATGTCGACTCCTTGA	0.557000													26	57					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115529591	115529591	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:115529591C>G	ENST00000361048.1	+	7	811	c.484C>G	c.(484-486)Ctc>Gtc	p.L162V	PLEKHS1_ENST00000369310.3_Missense_Mutation_p.L156V|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.L74V	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		CTCCAGCCCTCTCCTTGGCCC	0.493000													28	106					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122741983	122741983	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:122741983A>G	ENST00000227348.4	+	10	1105	c.1058A>G	c.(1057-1059)cAc>cGc	p.H353R	CRTAM_ENST00000533709.1_Missense_Mutation_p.H154R	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	353					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCAGCTTCCCACCCTATGCGT	0.323000													29	100					0	0	1	0	0
C4orf29	80167	broad.mit.edu	37	4	128949908	128949908	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:128949908C>G	ENST00000388795.5	+	11	1237	c.834C>G	c.(832-834)caC>caG	p.H278Q	C4orf29_ENST00000398965.1_Missense_Mutation_p.H326Q|C4orf29_ENST00000444616.1_Missense_Mutation_p.H326Q			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	326						extracellular region				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AGTCATACCACCTACTTAGTA	0.373000													5	59					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62221462	62221462	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:62221462C>G	ENST00000266068.1	-	9	2051	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q	GMEB2_ENST00000370077.1_Missense_Mutation_p.E525Q|GMEB2_ENST00000370069.1_Missense_Mutation_p.E474Q			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	525					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCGTGGTCCTCTGCCATGGCA	0.711000													10	34					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66103995	66103995	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:66103995G>A	ENST00000275532.3	+	4	830	c.646G>A	c.(646-648)Gag>Aag	p.E216K	KCTD7_ENST00000443322.1_Missense_Mutation_p.E216K	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	216						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGAGCGGAGTGAGAGTGACGG	0.567000													16	42					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45495945	45495945	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:45495945G>A	ENST00000541297.2	+	14	2223	c.1758G>A	c.(1756-1758)atG>atA	p.M586I	CLPTM1_ENST00000337392.5_Missense_Mutation_p.M600I|CLPTM1_ENST00000546079.1_Missense_Mutation_p.M498I			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	600					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGTTTGGCATGAGTGGAGAAG	0.637000													14	86					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570145	25570145	+	Missense_Mutation	SNP	C	C	T	rs143201939		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:25570145C>T	ENST00000269141.3	-	10	1937	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H	CDH2_ENST00000399380.3_Missense_Mutation_p.R474H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	505	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCTTCTTGGCGAATGATCTT	0.438000													14	62					0	0	1	0	0
IGF2BP2-AS1	646600	broad.mit.edu	37	3	185434433	185434433	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:185434433C>G	ENST00000296270.1	+	2	402	c.266C>G	c.(265-267)tCa>tGa	p.S89*	IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000382199.2_Intron|IGF2BP2_ENST00000421047.2_Intron|IGF2BP2_ENST00000346192.3_Intron																		all_cancers(143;1.5e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CACCAGCCCTCAGCTGTCTTG	0.567000													4	27					0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128628927	128628927	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:128628927G>C	ENST00000272647.5	-	4	674	c.414C>G	c.(412-414)ctC>ctG	p.L138L	AMMECR1L_ENST00000393001.1_Silent_p.L138L	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	138	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		ACGTCACAAAGAGCGGACTAA	0.438000													12	12					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47575922	47575922	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:47575922C>T	ENST00000253048.5	-	12	1526	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	497							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TTCAGTTCCTCCACCTCCTTC	0.627000													6	41					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111602980	111602980	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:111602980A>T	ENST00000431670.2	+	2	467	c.56A>T	c.(55-57)gAg>gTg	p.E19V	PHLDB2_ENST00000393925.3_Missense_Mutation_p.E19V|PHLDB2_ENST00000478922.1_Missense_Mutation_p.E19V|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E19V|PHLDB2_ENST00000477695.1_Missense_Mutation_p.E19V|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E46V|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E19V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	19						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGTAGCTTAGAGGAAGACTCT	0.383000													33	185					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44539796	44539796	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:44539796G>C	ENST00000542937.1	-	2	789	c.255C>G	c.(253-255)atC>atG	p.I85M	PLTP_ENST00000372431.3_Missense_Mutation_p.I65M|PLTP_ENST00000354050.4_Missense_Mutation_p.I65M|PLTP_ENST00000420868.2_Missense_Mutation_p.I65M|PLTP_ENST00000477313.1_Missense_Mutation_p.I65M			P55058	PLTP_HUMAN	phospholipid transfer protein	65					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CTTACTCAGAGATGTTGTAGT	0.637000													19	99					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140762932	140762932	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:140762932G>C	ENST00000518325.1	+	1	466	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGTTAAGCGAGGCTGGGGA	0.468000													9	24					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41879198	41879198	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:41879198C>T	ENST00000398393.1	-	18	1964	c.1704G>A	c.(1702-1704)cgG>cgA	p.R568R	MPP3_ENST00000398389.4_Silent_p.R543R			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	543	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GCCCGTAATGCCGGTCTATGA	0.547000													4	175					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237296	33237296	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:33237296C>T	ENST00000401073.2	+	6	2586	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.P791L|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P780L|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	780	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCCAGCTCCGCCAGCCCCA	0.662000													3	26					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906408	129906408	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:129906408C>G	ENST00000368654.3	-	13	4071	c.3696G>C	c.(3694-3696)caG>caC	p.Q1232H	MKI67_ENST00000368653.3_Missense_Mutation_p.Q872H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1232	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GACCAGGAGTCTGGAAGAGCT	0.517000													13	102					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20073961	20073961	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:20073961G>A	ENST00000351989.3	+	2	904	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	DGCR8_ENST00000407755.1_Missense_Mutation_p.V159M|DGCR8_ENST00000383024.2_Missense_Mutation_p.V159M	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	159	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CAGTGGGGACGTGCATGCTTG	0.587000													28	67					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11750940	11750940	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:11750940C>T	ENST00000381486.2	+	18	3093	c.2793C>T	c.(2791-2793)atC>atT	p.I931I	GREB1_ENST00000234142.5_Silent_p.I931I	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	931						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCTGGAGATCACGCAGAACC	0.652000													13	80					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153750361	153750361	+	Splice_Site	SNP	G	G	A	rs140685695	byFrequency	TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:153750361G>A	ENST00000271857.2	+	4	2305	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Splice_Site_p.P434P			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	434					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCAGCCCCCGGTGCGTGGGC	0.602000													4	26					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277474	95277474	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr9:95277474G>C	ENST00000344604.5	-	4	642	c.493C>G	c.(493-495)Cta>Gta	p.L165V	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	165					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CCACTGAGTAGAGAATAGGAG	0.338000													11	37					0	0	1	0	0
CCDC172	374355	broad.mit.edu	37	10	118138846	118138846	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:118138846G>A	ENST00000333254.3	+	9	1004	c.753G>A	c.(751-753)caG>caA	p.Q251Q		NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		CATTGGCACAGAAAGATCTTC	0.274000													9	78					0	0	1	0	0
YY1	7528	broad.mit.edu	37	14	100741090	100741090	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:100741090C>T	ENST00000262238.4	+	3	1158	c.898C>T	c.(898-900)Cat>Tat	p.H300Y		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	300	Involved in nuclear matrix association.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				AGCTTGCCCTCATAAAGTAAG	0.338000													47	33					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143017804	143017804	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:143017804G>C	ENST00000343257.2	+	3	436	c.349G>C	c.(349-351)Gac>Cac	p.D117H		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	117					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTAGGGGAAGACGGGATCTT	0.473000													21	48					0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18178241	18178241	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:18178241C>G	ENST00000321105.5	-	19	3095	c.2881G>C	c.(2881-2883)Gaa>Caa	p.E961Q	TOP3A_ENST00000540524.1_Missense_Mutation_p.E491Q|TOP3A_ENST00000542570.1_Missense_Mutation_p.E866Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	961					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTTCTGGCTTCCGACTCCAGG	0.602000													16	81					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899931	53899931	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:53899931G>A	ENST00000266987.2	+	9	1583	c.1100G>A	c.(1099-1101)tGa>tAa	p.*367*	TARBP2_ENST00000394357.2_Silent_p.*346*|TARBP2_ENST00000456234.2_Silent_p.*346*|TARBP2_ENST00000552857.1_3'UTR	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	0					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GGCAGCAAGTGAAGCCCCAGC	0.617000													12	13					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37326016	37326016	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:37326016C>A	ENST00000231498.3	-	19	2281	c.2078G>T	c.(2077-2079)aGa>aTa	p.R693I	NUP155_ENST00000381843.2_Missense_Mutation_p.R634I|NUP155_ENST00000513532.1_Missense_Mutation_p.R693I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	693					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGATCTCTCTGTTGCCACT	0.313000													16	116					1.67942e-08	1.76339e-08	1	1	0
PKLR	5313	broad.mit.edu	37	1	155271103	155271103	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:155271103C>G	ENST00000342741.4	-	1	122	c.84G>C	c.(82-84)ctG>ctC	p.L28L		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	28					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GAGCCCCAATCAGGATGGACT	0.507000													15	72					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24833113	24833113	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:24833113G>C	ENST00000376451.2	+	14	4223	c.3963G>C	c.(3961-3963)gtG>gtC	p.V1321V	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.V1638V|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1638					embryonic skeletal system development	cytoplasm		p.V1638V(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						AAAACACAGTGAGGAGGCAAG	0.473000													7	48					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381383	13381383	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:13381383C>T	ENST00000254508.5	-	25	3524	c.3442G>A	c.(3442-3444)Gag>Aag	p.E1148K	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1148					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ttgccGGTCTCTGCATCCACT	0.592000													23	99					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607134	21607134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:21607134C>A	ENST00000392288.2	+	4	1782	c.1673C>A	c.(1672-1674)tCa>tAa	p.S558*	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Nonsense_Mutation_p.S430*	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AATCGGTCCTCACACCTTACT	0.363000													9	29					0.00448238	0.00453378	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120596	38120596	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:38120596T>A	ENST00000406386.3	+	7	2288	c.2033T>A	c.(2032-2034)cTa>cAa	p.L678Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	678					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTGTGCCCTACGGGACAAT	0.582000													4	30					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188209	70188209	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:70188209T>A	ENST00000320256.4	-	1	1188	c.612A>T	c.(610-612)aaA>aaT	p.K204N		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	204					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TCACGGGCACTTTGCCAATCT	0.602000													25	55					0	0	1	0	0
MRFAP1	93621	broad.mit.edu	37	4	6642857	6642857	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:6642857G>T	ENST00000320912.4	+	2	921	c.268G>T	c.(268-270)Gag>Tag	p.E90*	MRFAP1_ENST00000507420.1_Nonsense_Mutation_p.E90*|MRFAP1_ENST00000382581.4_Nonsense_Mutation_p.E90*	NM_001272053.1	NP_001258982.1	Q9Y605	MOFA1_HUMAN	Morf4 family associated protein 1	90						nucleus|perinuclear region of cytoplasm	protein binding			lung(1)	1						CGACGCGGCCGAGGGCCGGGC	0.632000													25	35					4.26978e-12	4.59261e-12	1	1	0
MDP1	145553	broad.mit.edu	37	14	24683326	24683326	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:24683326C>G	ENST00000288087.7	-	6	546	c.435G>C	c.(433-435)atG>atC	p.M145I	MDP1_ENST00000396833.2_Missense_Mutation_p.E99Q|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.M162I	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TTTGAAGATTCATTCCATTCT	0.438000													16	156					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102836039	102836039	+	RNA	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:102836039C>G	ENST00000312132.4	-	0	3560																											TCTGCGAACTCTGCGAAAAAG	0.353000													3	11					0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137802686	137802686	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:137802686C>T	ENST00000239938.4	+	2	820	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	183					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCTCCGCCTCCGCCTCCCAG	0.647000													23	65					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17692038	17692038	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:17692038G>A	ENST00000252599.4	+	12	1774	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		CTTCTCTGTGGAGCCGCTGCT	0.592000													28	75					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39330215	39330215	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:39330215C>G	ENST00000287152.7	-	17	2035	c.1941G>C	c.(1939-1941)aaG>aaC	p.K647N	KIF6_ENST00000394362.1_Missense_Mutation_p.K98N|KIF6_ENST00000229913.5_Missense_Mutation_p.K98N|KIF6_ENST00000373213.4_Missense_Mutation_p.K486N|KIF6_ENST00000373216.3_Missense_Mutation_p.K647N|KIF6_ENST00000373215.3_Missense_Mutation_p.K630N|KIF6_ENST00000538893.1_Missense_Mutation_p.K591N|KIF6_ENST00000541946.1_Missense_Mutation_p.K98N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	647					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCACCTTCTCTTTTCTTCCT	0.567000											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	48					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247027261	247027261	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:247027261C>G	ENST00000366508.1	-	27	3746	c.3610G>C	c.(3610-3612)Gaa>Caa	p.E1204Q	AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1169Q|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1178Q			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1169	Necessary for nuclear 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			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)			AAATGTAATTCTGAAGCCCTG	0.428000													9	86					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172926258	172926258	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:172926258C>T	ENST00000315796.4	+	2	460	c.73C>T	c.(73-75)Cat>Tat	p.H25Y		NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	25					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ACCACTCAATCATATCTACTT	0.358000													34	109					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8218691	8218691	+	Missense_Mutation	SNP	C	C	G	rs141207302		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:8218691C>G	ENST00000539824.1	+	7	782	c.408C>G	c.(406-408)ttC>ttG	p.F136L	SH3TC1_ENST00000245105.3_Missense_Mutation_p.F212L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	212							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGGGCCCTTCTTTGTCCTGT	0.662000													13	57					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	32					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32414237	32414237	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:32414237G>C	ENST00000332351.3	-	8	1598	c.1314C>G	c.(1312-1314)ctC>ctG	p.L438L	WT1_ENST00000379079.2_Silent_p.L226L|WT1_ENST00000530998.1_Silent_p.L209L|WT1_ENST00000448076.3_Silent_p.L438L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	370					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGTGTCTTTTGAGCTGGTCTG	0.433000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				10	35					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53295806	53295806	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:53295806G>A	ENST00000552551.1	-	3	807	c.375C>T	c.(373-375)ctC>ctT	p.L125L	KRT8_ENST00000546897.1_Silent_p.L125L|KRT8_ENST00000552150.1_Silent_p.L153L|KRT8_ENST00000293308.6_Silent_p.L125L			P05787	K2C8_HUMAN	keratin 8	125	Coil 1A.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCTGCAGGAGGCTCCACT	0.547000													8	29					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46621020	46621020	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:46621020C>T	ENST00000330070.4	-	2	1648	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	161					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						AAGTGGAATTCCTTCTCCAGT	0.622000													11	54					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880105	82880105	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:82880105C>G	ENST00000298281.4	+	8	3180	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	910	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCCCCGAGGTCAGCCTGTAGG	0.532000													8	28					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100056665	100056665	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:100056665C>G	ENST00000369215.4	+	2	498	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	65	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGCTCCCCTCTGGAGTGGAT	0.612000													9	36					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135032547	135032547	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:135032547C>T	ENST00000304613.3	+	28	4834	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	KNDC1_ENST00000368572.2_Silent_p.L1607L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1605	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					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)		CTGGAGAATTCTGCCTGCAAA	0.647000													10	24					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24802314	24802314	+	Missense_Mutation	SNP	G	G	A	rs143221112	by1000genomes	TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:24802314G>A	ENST00000376451.2	+	5	1437	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	KIAA1217_ENST00000396445.1_Missense_Mutation_p.E393K|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E710K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E596K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E675K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E393K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E675K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E630K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E393K			Q5T5P2	SKT_HUMAN	KIAA1217	710					embryonic skeletal system development	cytoplasm				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						AGTGGAGCAAGAGAGACAAAA	0.468000											OREG0020076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	42					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101797434	101797434	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr9:101797434G>C	ENST00000375001.3	+	18	2641	c.2218G>C	c.(2218-2220)Gag>Cag	p.E740Q		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	740	Nonhelical region 3 (NC3).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				ACTTGGATTCGAGGTACTTTT	0.562000													19	60					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38922848	38922848	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:38922848C>T	ENST00000335552.4	-	8	1374	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	442	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGTGGACTCTCAGTGAAAGGA	0.343000													15	149					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703742	52703742	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:52703742G>C	ENST00000287727.3	+	4	825	c.653G>C	c.(652-654)aGa>aCa	p.R218T	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.R218T|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.R218T			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	218					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCATTGAATAGACCGAAAACA	0.373000													18	79					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8239337	8239337	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:8239337G>C	ENST00000539824.1	+	17	3839	c.3465G>C	c.(3463-3465)gaG>gaC	p.E1155D	SH3TC1_ENST00000245105.3_Missense_Mutation_p.E1231D			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1231							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTGACGAGGAGACCCTCTACT	0.632000													5	29					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108040476	108040476	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:108040476C>T	ENST00000278612.8	-	15	3110	c.3005G>A	c.(3004-3006)tGt>tAt	p.C1002Y		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1002					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GGTACCTATACAAGGCTTGTT	0.368000													5	66					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39225499	39225499	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:39225499G>C	ENST00000328867.4	-	15	2006	c.1698C>G	c.(1696-1698)ctC>ctG	p.L566L	CAPN12_ENST00000601953.1_Silent_p.L417L	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	566	Domain IV.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GAGAGGCATTGAGTTCTTCCT	0.592000													6	28					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558223	140558223	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:140558223G>C	ENST00000239444.2	+	1	853	c.608G>C	c.(607-609)cGa>cCa	p.R203P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGACCGAGAGGAAGAA	0.532000													6	58					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368416	111368416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:111368416G>A	ENST00000428084.1	-	53	6114	c.5842C>T	c.(5842-5844)Cga>Tga	p.R1948*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R1939*|DOCK4_ENST00000494651.2_Nonsense_Mutation_p.R822*			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1939	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGCTGGATCGCGCTGCCAGA	0.692000													8	18					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	9					0	0	1	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747690	167747690	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:167747690C>G	ENST00000470487.1	-	10	2000	c.1311G>C	c.(1309-1311)caG>caC	p.Q437H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q409H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	437	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						cctgcagcctctgctggtgca	0.617000													14	38					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57967259	57967259	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr15:57967259C>A	ENST00000574161.1	+	12	1416	c.1297C>A	c.(1297-1299)Cta>Ata	p.L433I	GCOM1_ENST00000380560.2_Missense_Mutation_p.L364I|GCOM1_ENST00000380569.2_Missense_Mutation_p.L433I|GCOM1_ENST00000396180.1_Missense_Mutation_p.L402I|GCOM1_ENST00000587652.1_Missense_Mutation_p.L433I|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.L374I|GCOM1_ENST00000380568.3_Missense_Mutation_p.L433I|MYZAP_ENST00000267853.5_Missense_Mutation_p.L433I|GCOM1_ENST00000572390.1_Missense_Mutation_p.L405I|MYZAP_ENST00000380565.4_Missense_Mutation_p.L405I	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		433					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CTGTGATCTTCTACCCAGGTA	0.383000													6	17					0.0293803	0.0293803	1	1	0
DYTN	391475	broad.mit.edu	37	2	207570579	207570579	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:207570579G>A	ENST00000452335.2	-	4	431	c.315C>T	c.(313-315)ctC>ctT	p.L105L		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	105						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GCATAAGCTGGAGAAAACCTG	0.468000													5	9					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25261091	25261091	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:25261091G>C	ENST00000276440.7	+	48	4988	c.4944G>C	c.(4942-4944)gaG>gaC	p.E1648D		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1648						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACTTGACGGAGAGGAAGCAAA	0.542000													33	117					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24346773	24346773	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:24346773A>G	ENST00000175238.6	+	12	1276	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	ADAM7_ENST00000380789.1_Missense_Mutation_p.N398S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.N170S|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	398					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			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)		TTTCCTTACAATTTTCATGAT	0.388000													13	26					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48947585	48947585	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:48947585C>G	ENST00000267163.4	+	12	1310	c.1172C>G	c.(1171-1173)tCa>tGa	p.S391*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	391	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.L389fs*3(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTTTAAATTCAGCAAGTGAT	0.289000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			167	75					0	0	1	0	0
OPN5	221391	broad.mit.edu	37	6	47754339	47754339	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:47754339C>G	ENST00000489301.2	+	2	304	c.219C>G	c.(217-219)atC>atG	p.I73M	OPN5_ENST00000371211.2_Missense_Mutation_p.I73M|OPN5_ENST00000393699.2_Missense_Mutation_p.I73M			Q6U736	OPN5_HUMAN	opsin 5	73					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.I73I(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TAATGACTATCAATTTAGCAG	0.403000													12	73					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806475	27806475	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:27806475G>A	ENST00000606613.1	+	1	97	c.36G>A	c.(34-36)aaG>aaA	p.K12K	HIST1H2BN_ENST00000396980.3_Silent_p.K12K			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	12					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						CTGCCCCGAAGAAAGGCTCCA	0.557000													16	93					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71591155	71591155	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:71591155G>A	ENST00000409544.1	+	5	2120	c.1490G>A	c.(1489-1491)aGa>aAa	p.R497K	ZNF638_ENST00000355812.3_Missense_Mutation_p.R497K|ZNF638_ENST00000377802.2_Missense_Mutation_p.R497K|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.R497K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	497	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGGCGTTCTAGAAGATCAAGC	0.463000													13	64					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33281147	33281147	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:33281147C>A	ENST00000434618.2	-	3	661	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	TAPBP_ENST00000475304.1_Missense_Mutation_p.A106S|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000426633.2_Missense_Mutation_p.A106S|TAPBP_ENST00000456592.2_Missense_Mutation_p.A106S	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	106					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						AGGCCGCTGGCCCATTTCGCA	0.701000													7	15					5.18039e-06	5.3628e-06	1	1	0
GPALPP1	55425	broad.mit.edu	37	13	45602031	45602031	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:45602031G>A	ENST00000361121.2	+	8	951	c.916G>A	c.(916-918)Gat>Aat	p.D306N	GPALPP1_ENST00000357537.3_Missense_Mutation_p.D136N|GPALPP1_ENST00000379151.4_Missense_Mutation_p.D306N|RP11-321C24.1_ENST00000437748.2_lincRNA					GPALPP motifs containing 1	306																	CCGTGATAAAGATCTCAAGGT	0.348000													28	160					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204016299	204016299	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:204016299G>C	ENST00000449802.1	+	34	5820	c.5487G>C	c.(5485-5487)ttG>ttC	p.L1829F		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1829							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTAGTGCCTTGAGAGATAATC	0.368000													9	34					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987052	61987052	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:61987052G>A	ENST00000409186.1	-	5	3285	c.1180C>T	c.(1180-1182)Cac>Tac	p.H394Y	PCDH20_ENST00000409204.4_Missense_Mutation_p.H394Y			Q8N6Y1	PCD20_HUMAN	protocadherin 20	367	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGAGCTTGTGGGACTCCAGA	0.418000													14	138					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													4	105					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154314997	154314997	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:154314997G>A	ENST00000368489.3	+	14	1384	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	448					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGAATTGGGAGAGGTAAGATT	0.488000													12	47					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61978168	61978168	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:61978168G>A	ENST00000370263.4	-	6	2027	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	602					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	ACATCCAGAGGAAGATGCGGT	0.657000													8	48					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117119185	117119185	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr9:117119185G>A	ENST00000307564.4	-	13	2965	c.2804C>T	c.(2803-2805)tCa>tTa	p.S935L	AKNA_ENST00000374075.5_Missense_Mutation_p.S854L|AKNA_ENST00000223791.3_Missense_Mutation_p.S395L|AKNA_ENST00000374088.3_Missense_Mutation_p.S935L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGTGAGGGGTGAAACTCTGCT	0.572000													14	66					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56584222	56584222	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:56584222C>T	ENST00000323456.5	-	10	997	c.873G>A	c.(871-873)ctG>ctA	p.L291L	MTMR4_ENST00000579925.1_Silent_p.L291L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	291	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCACGCAGTCAGAGAAGAAT	0.587000													9	13					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275804	114275804	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:114275804C>G	ENST00000357077.4	+	38	6083	c.6030C>G	c.(6028-6030)ctC>ctG	p.L2010L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.L1977L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1977					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAACTGGACTCTTTGAGCACA	0.448000													13	89					0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862420	5862420	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:5862420G>C	ENST00000329322.5	-	1	707	c.708C>G	c.(706-708)ctC>ctG	p.L236L	OR52E6_ENST00000379946.2_Silent_p.L240L|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGAGCTTTGAGTCGAGCTT	0.443000													18	33					0	0	1	0	0
COQ3	51805	broad.mit.edu	37	6	99817477	99817477	+	Nonstop_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:99817477C>A	ENST00000254759.3	-	7	1133	c.1109G>T	c.(1108-1110)tGa>tTa	p.*370L	COQ3_ENST00000369242.1_Nonstop_Mutation_p.*142L|COQ3_ENST00000369240.1_Nonstop_Mutation_p.*142L	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	0					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AGAAACAATTCATTTCTTCAG	0.373000													20	123					1.01871e-10	1.07993e-10	1	1	0
CXCL10	3627	broad.mit.edu	37	4	76944566	76944566	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:76944566G>C	ENST00000306602.1	-	1	84	c.19C>G	c.(19-21)Ctg>Gtg	p.L7V	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	7					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGCAAATCAGAATGGCAGTT	0.393000													7	64					0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115109	107115109	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:107115109G>A	ENST00000304402.4	+	3	1947	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	202						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						CAGTACAAATGAATACTACAC	0.318000													24	30					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14865396	14865396	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:14865396G>A	ENST00000282096.4	+	12	2697	c.2344G>A	c.(2344-2346)Ggg>Agg	p.G782R	PDE3B_ENST00000455098.2_Missense_Mutation_p.G731R	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	782	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AATTAACCATGGGCGAATTGC	0.378000													35	101					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236746456	236746456	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:236746456C>T	ENST00000366582.3	-	18	2396	c.2282G>A	c.(2281-2283)aGa>aAa	p.R761K	HEATR1_ENST00000366581.2_Missense_Mutation_p.R761K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	761					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGGATCCCTCTGTCTAACAT	0.433000													37	193					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704553	117704553	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:117704553G>A	ENST00000368508.3	-	16	2621	c.2423C>T	c.(2422-2424)tCa>tTa	p.S808L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S803L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	808					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTTTCCACTGAATAGAGTGT	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								20	134					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384053	108384053	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:108384053G>C	ENST00000265843.4	-	6	2291	c.2181C>G	c.(2179-2181)ccC>ccG	p.P727P	EXPH5_ENST00000443411.1_Silent_p.P539P|EXPH5_ENST00000525344.1_Silent_p.P720P|EXPH5_ENST00000428840.1_Silent_p.P651P	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	727					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAACAGGTTGGGGTATTTCAC	0.398000													17	66					0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95360695	95360695	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:95360695C>T	ENST00000371467.1	-	2	410	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RBP4_ENST00000371469.2_Missense_Mutation_p.E29K|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.E31K			P02753	RET4_HUMAN	retinol binding protein 4, plasma	31					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	TCGAAGTTCTCCTTGACTCGG	0.731000													5	52					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488812	61488812	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:61488812C>G	ENST00000335351.3	-	4	1265	c.1173G>C	c.(1171-1173)caG>caC	p.Q391H	TCFL5_ENST00000217162.5_Missense_Mutation_p.Q343H	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	391					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGGGCCCACTCTGGGCCTGCT	0.572000													30	148					0	0	1	0	0
DNAJB14	79982	broad.mit.edu	37	4	100827681	100827681	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:100827681C>G	ENST00000442697.2	-	5	879	c.725G>C	c.(724-726)aGa>aCa	p.R242T		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	242					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		tacatctcctctttCCTCTTC	0.358000													8	56					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37466989	37466989	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:37466989C>T	ENST00000381792.2	-	14	1779	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.D547N|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.D547N|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.D556N			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	556	LDL-receptor class A 3.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TCCCTGCAGTCGGGCCGCCCA	0.672000													6	31					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15330524	15330524	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:15330524C>T	ENST00000281513.5	-	49	6461	c.6436G>A	c.(6436-6438)Gac>Aac	p.D2146N	NBAS_ENST00000441750.1_Missense_Mutation_p.D2026N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2146										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCAGCTATGTCTACCTGGAAG	0.353000													27	185					0	0	1	0	0
GBAP1	2630	broad.mit.edu	37	1	155188709	155188709	+	RNA	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:155188709G>C	ENST00000486869.1	-	0	25					NR_002188.2																						AGGGGTTCCAGAGTCTCTGAA	0.478000													9	28					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979537	107979537	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:107979537C>T	ENST00000372129.2	-	1	114	c.38G>A	c.(37-39)aGa>aAa	p.R13K	RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	13						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTAGTCTTCTTGTCGCTTG	0.602000													13	19					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65784633	65784633	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:65784633G>A	ENST00000312106.5	-	11	2351	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	738					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AATGGAACAGGAGCTCCTGCT	0.642000													3	14					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3193410	3193410	+	Silent	SNP	C	C	T	rs145932625		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:3193410C>T	ENST00000246117.4	+	3	935	c.504C>T	c.(502-504)tcC>tcT	p.S168S	NCLN_ENST00000590671.1_Silent_p.S94S	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	168					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGGCTCCGCCTCTGCTG	0.697000													29	7					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58145012	58145012	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:58145012C>G	ENST00000184956.6	-	8	1037	c.1021G>C	c.(1021-1023)Gag>Cag	p.E341Q	HEATR6_ENST00000585976.1_Missense_Mutation_p.E341Q	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	341							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGGGCTGCCTCTATTTCACCA	0.473000													20	104					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505508	102505508	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:102505508G>A	ENST00000360184.4	+	60	11541	c.11377G>A	c.(11377-11379)Gag>Aag	p.E3793K	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3793					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTCATGCAGGAGGTGGAGAC	0.562000													12	67					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47460153	47460153	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:47460153C>T	ENST00000265565.5	-	14	2533	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	SCAP_ENST00000441517.2_Silent_p.T452T|SCAP_ENST00000545718.1_Silent_p.T315T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	707					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ACTTGTACAGCGTGACGTCTC	0.692000													3	18					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141309802	141309802	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:141309802C>G	ENST00000432126.2	+	7	851	c.717C>G	c.(715-717)ctC>ctG	p.L239L	KIAA0141_ENST00000194118.4_Silent_p.L239L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	239					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGCAGCTCTTCCAGCTCA	0.473000													19	71					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152527335	152527335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:152527335C>A	ENST00000367255.5	-	126	23588	c.22987G>T	c.(22987-22989)Gaa>Taa	p.E7663*	SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E2187*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E7663*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E7592*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E7592*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E7275*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7663					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCTGTTCTTCCAGCCGC	0.468000										HNSCC(10;0.0054)			42	40					3.61183e-13	3.90396e-13	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33956843	33956843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:33956843G>T	ENST00000361328.3	+	6	1138	c.985G>T	c.(985-987)Gag>Tag	p.E329*	ZSCAN20_ENST00000373413.2_Nonsense_Mutation_p.E275*	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	329					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTGGGGCTATGAGGAGACCAA	0.522000													11	48					6.40141e-05	6.58047e-05	1	1	0
TRO	7216	broad.mit.edu	37	X	54954190	54954190	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:54954190G>A	ENST00000173898.7	+	11	1966	c.1854G>A	c.(1852-1854)atG>atA	p.M618I	TRO_ENST00000375041.2_Missense_Mutation_p.M221I|TRO_ENST00000399736.1_Missense_Mutation_p.M221I|TRO_ENST00000319167.8_Missense_Mutation_p.M618I|TRO_ENST00000375022.4_Missense_Mutation_p.M618I|TRO_ENST00000420798.2_Missense_Mutation_p.M149I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	618	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTAGCAAGATGAAAGTCCTCA	0.522000													4	12					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13399528	13399528	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:13399528C>A	ENST00000284110.1	-	2	2004	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.G201C	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	403						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCATCCCAGCCAAAGTCGTGC	0.428000													30	33					6.53348e-20	7.13184e-20	1	1	0
SEPP1	6414	broad.mit.edu	37	5	42807125	42807125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:42807125G>A	ENST00000514985.1	-	3	545	c.289C>T	c.(289-291)Cga>Tga	p.R97*	SEPP1_ENST00000511224.1_Nonsense_Mutation_p.R97*|SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000509276.1_Intron|SEPP1_ENST00000506577.1_Nonsense_Mutation_p.R97*	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	97					response to oxidative stress	extracellular region	selenium binding	p.R97G(1)		kidney(10)|large_intestine(1)|lung(4)	15						TATTTTAATCGAGAAGAGATT	0.308000													20	107					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7567656	7567656	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:7567656C>T	ENST00000379802.3	+	9	1455	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	DSP_ENST00000418664.2_Silent_p.L372L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	372	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGTTCATCTGAAAGAAAA	0.363000													21	97					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21876595	21876595	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:21876595G>A	ENST00000399982.2	-	12	2670	c.2606C>T	c.(2605-2607)tCc>tTc	p.S869F	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Missense_Mutation_p.S869F|CHD8_ENST00000430710.3_Missense_Mutation_p.S590F	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	869	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.S869F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTAATTGTGGACAGTGGGGC	0.448000													24	91					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33633967	33633967	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:33633967G>A	ENST00000399362.4	-	21	2341	c.1988C>T	c.(1987-1989)tCa>tTa	p.S663L	CLASP2_ENST00000359576.5_Missense_Mutation_p.S663L|CLASP2_ENST00000461133.3_Missense_Mutation_p.S430L|CLASP2_ENST00000539981.1_Missense_Mutation_p.S415L|CLASP2_ENST00000480013.1_Missense_Mutation_p.S430L|CLASP2_ENST00000468888.2_Missense_Mutation_p.S664L|CLASP2_ENST00000307312.7_Missense_Mutation_p.S152L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	664										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AAGTGGTGCTGAAAGTTTTGC	0.363000													8	38					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640752	29640752	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:29640752G>C	ENST00000376883.1	-	6	1487	c.1076C>G	c.(1075-1077)tCa>tGa	p.S359*	ZFP57_ENST00000488757.1_Nonsense_Mutation_p.S379*|ZFP57_ENST00000376881.3_Nonsense_Mutation_p.S359*			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	295					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						ATTGAGTCTTGAGGGCTTCAC	0.517000													15	296					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41743981	41743981	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:41743981C>T	ENST00000301178.4	+	7	1106	c.916C>T	c.(916-918)Cac>Tac	p.H306Y	AXL_ENST00000359092.3_Missense_Mutation_p.H306Y|AXL_ENST00000593513.1_Missense_Mutation_p.H38Y	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	306	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.H306Y(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CACCCCTTATCACATCCGCGT	0.662000													17	116					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27216929	27216929	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:27216929G>A	ENST00000230582.3	+	4	403	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	130					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.E130Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GATAAGCCTGGAACACAGATT	0.597000													7	68					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	91					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786428	121786428	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:121786428C>T	ENST00000261367.7	+	12	3455	c.2027C>T	c.(2026-2028)tCa>tTa	p.S676L	SNCAIP_ENST00000379538.3_Missense_Mutation_p.S263L|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S569L|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S231L|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S187L|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S629L|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S676L|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	629					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AAGGAAATCTCAGAAAATGTC	0.458000													11	28					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141081483	141081483	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:141081483G>A	ENST00000389484.3	-	81	13464	c.12493C>T	c.(12493-12495)Cat>Tat	p.H4165Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4165					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATAACGATGAGATATCAAA	0.249000										TSP Lung(27;0.18)			20	91					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444177	49444177	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:49444177G>A	ENST00000301067.7	-	11	3193	c.3194C>T	c.(3193-3195)tCa>tTa	p.S1065L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCCTCATCTGAGACCCCCAC	0.582000													3	17					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469780	120469780	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:120469780C>T	ENST00000283875.5	+	2	474	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	127					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGGCTTCCTTCAAATGTCCTG	0.383000													9	74					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96090484	96090484	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:96090484C>T	ENST00000453304.1	-	16	3045	c.2697G>A	c.(2695-2697)caG>caA	p.Q899Q		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	899	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTGGGAAGTTCTGTGCTTCCC	0.468000													17	63					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103340782	103340782	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr9:103340782C>G	ENST00000307584.5	+	1	422	c.357C>G	c.(355-357)gtC>gtG	p.V119V		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	119					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AAGTTGAAGTCAAGCAAGAGG	0.368000													13	51					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60793658	60793658	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:60793658G>A	ENST00000340177.5	-	2	590	c.306C>T	c.(304-306)ttC>ttT	p.F102F	HRH3_ENST00000317393.6_Silent_p.F102F	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	102					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GGCCCCGGCCGAAGGTCCAGC	0.632000													3	16					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95715355	95715355	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:95715355C>G	ENST00000309988.4	+	3	400	c.291C>G	c.(289-291)ctC>ctG	p.L97L	MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Silent_p.L41L|MAL_ENST00000353004.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	97	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCGCTGCCCTCTTTTACCTCA	0.617000													14	50					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50678723	50678723	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:50678723G>A	ENST00000439308.2	-	2	1307	c.815C>T	c.(814-816)tCt>tTt	p.S272F	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.S272F	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	272					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCTGGGCTCAGACTGGGAATC	0.612000													7	8					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296928	154296928	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:154296928C>G	ENST00000324978.3	+	6	918	c.878C>G	c.(877-879)tCa>tGa	p.S293*	AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	293					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTCCTGCCTCAGCTCAGATG	0.562000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	100					0	0	1	0	0
GMEB2	26205	broad.mit.edu	37	20	62221501	62221501	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:62221501C>T	ENST00000266068.1	-	9	2012	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	GMEB2_ENST00000370077.1_Missense_Mutation_p.E512K|GMEB2_ENST00000370069.1_Missense_Mutation_p.E461K			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	512					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GTGTGCTCCTCAGGCCCGGGG	0.701000													11	38					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825372	131825372	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:131825372C>T	ENST00000359827.3	-	30	6386	c.5424G>A	c.(5422-5424)aaG>aaA	p.K1808K	PLXNA4_ENST00000321063.4_Silent_p.K1808K			Q9HCM2	PLXA4_HUMAN	plexin A4	1808						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACCCAATTCTTGTAGCTGG	0.592000													7	31					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585300	41585300	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:41585300G>A	ENST00000262415.3	+	15	2305	c.2233G>A	c.(2233-2235)Gaa>Aaa	p.E745K	DHX8_ENST00000540306.1_Missense_Mutation_p.E745K	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	745						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATATCCAGTGGAAATACTGTA	0.433000													12	90					0	0	1	0	0
RNH1	6050	broad.mit.edu	37	11	499017	499017	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:499017G>C	ENST00000534797.1	-	4	2019	c.612C>G	c.(610-612)ctC>ctG	p.L204L	RNH1_ENST00000356187.5_Silent_p.L204L|RNH1_ENST00000438658.2_Silent_p.L204L|RNH1_ENST00000397615.2_Silent_p.L204L|RNH1_ENST00000397614.1_Silent_p.L204L|RNH1_ENST00000533410.1_Silent_p.L204L|RNH1_ENST00000354420.2_Silent_p.L204L|RNH1_ENST00000397604.3_Silent_p.L204L			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	204					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGCCTACTTGAGCGCCTCCA	0.662000													9	24					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12958006	12958006	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:12958006C>T	ENST00000276297.4	-	9	2249	c.1840G>A	c.(1840-1842)Gcc>Acc	p.A614T	DLC1_ENST00000512044.2_Missense_Mutation_p.A211T|DLC1_ENST00000358919.2_Missense_Mutation_p.A177T|DLC1_ENST00000520226.1_Missense_Mutation_p.A103T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	614					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGGGGGTGGCAGCATCCTCG	0.652000													15	46					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15361256	15361256	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:15361256G>A	ENST00000376030.2	+	3	724	c.430G>A	c.(430-432)Gat>Aat	p.D144N	KAZN_ENST00000400798.2_Missense_Mutation_p.D50N|KAZN_ENST00000503743.1_Missense_Mutation_p.D144N|KAZN_ENST00000361144.5_Missense_Mutation_p.D138N|KAZN_ENST00000422387.2_Missense_Mutation_p.D144N|KAZN_ENST00000400797.3_Missense_Mutation_p.D50N	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	144					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CATGAAAGCTGATCGGAAGCG	0.572000													8	14					0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165652335	165652335	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:165652335C>T	ENST00000354775.4	-	3	644	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.E20K	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	90					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	GTAGCAATTTCATCCTCCCGT	0.413000													27	131					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76964693	76964693	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:76964693G>A	ENST00000380887.2	+	7	1266	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	ESRRB_ENST00000261532.7_Silent_p.L398L|ESRRB_ENST00000556177.1_Silent_p.L398L|ESRRB_ENST00000509242.1_Silent_p.L398L|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	398						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CACTGCCGCTGCTGCGGCAGA	0.632000													4	17					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667768	70667768	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:70667768T>A	ENST00000260126.4	-	4	1855	c.1149A>T	c.(1147-1149)aaA>aaT	p.K383N	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.K383N|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.K383N	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1		Poly-Lys.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAACAGAAAATTTTTTCTTTT	0.373000													12	24					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120911370	120911370	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:120911370G>C	ENST00000310396.5	+	22	3221	c.2754G>C	c.(2752-2754)ttG>ttC	p.L918F		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AAGAAAATTTGATTATTCTGG	0.343000													8	41					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949350	198949350	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:198949350G>T	ENST00000428675.1	+	2	1507	c.1109G>T	c.(1108-1110)gGg>gTg	p.G370V	PLCL1_ENST00000437704.2_Missense_Mutation_p.G272V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	370					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGTCAAAAAGGGTTTCTTGCA	0.413000													20	92					1.2644e-06	1.31821e-06	1	1	0
POU3F1	5453	broad.mit.edu	37	1	38511674	38511674	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:38511674C>A	ENST00000373012.2	-	1	776	c.742G>T	c.(742-744)Gat>Tat	p.D248Y		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	248	POU-specific.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGGCGCATCCTCGTCCGAG	0.731000													7	14					2.0095e-06	2.09007e-06	1	1	0
FOXP4	116113	broad.mit.edu	37	6	41533515	41533515	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:41533515C>A	ENST00000373060.1	+	2	475	c.17C>A	c.(16-18)gCc>gAc	p.A6D	FOXP4_ENST00000373063.3_Missense_Mutation_p.A6D|FOXP4_ENST00000373057.3_Missense_Mutation_p.A6D|FOXP4_ENST00000409208.1_Missense_Mutation_p.A6D|FOXP4_ENST00000307972.4_Missense_Mutation_p.A6D	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	6					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GTGGAATCTGCCTCGGAGACA	0.617000													23	130					4.7796e-09	5.03056e-09	1	1	0
NFATC2IP	84901	broad.mit.edu	37	16	28970119	28970119	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:28970119G>C	ENST00000320805.4	+	6	1003	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.E18Q|NFATC2IP_ENST00000562977.1_3'UTR|NFATC2IP_ENST00000564978.1_Missense_Mutation_p.E31Q	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	310						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GCTTTTTGGAGAGACAGAGCT	0.577000													12	52					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26749890	26749890	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:26749890C>T	ENST00000381340.3	-	31	4596	c.4180G>A	c.(4180-4182)Gaa>Aaa	p.E1394K		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1394					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACTTGATTTCAGTGTAGACA	0.537000													12	42					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263773	48263773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:48263773G>A	ENST00000225964.5	-	49	4028	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1304	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACACTGGGCTGAGTGGGGTAC	0.557000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						22	127					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122661814	122661814	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:122661814G>A	ENST00000263461.6	+	22	2979	c.2733G>A	c.(2731-2733)caG>caA	p.Q911Q	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	911						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTCTCTTGCAGAGGTGCCTGC	0.343000													16	91					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39212291	39212291	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:39212291C>T	ENST00000252699.2	+	12	1481	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ACTN4_ENST00000390009.3_Missense_Mutation_p.R250C|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	469					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCACCAGGACCGCGTGGAGCA	0.627000													12	22					0	0	1	0	0
CDC42EP3	10602	broad.mit.edu	37	2	37873476	37873476	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:37873476G>A	ENST00000295324.3	-	2	1255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	85					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				TGTTGGCCCGGAAGAACTCAT	0.527000													27	158					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67521065	67521065	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:67521065C>T	ENST00000590474.1	+	9	974	c.687C>T	c.(685-687)ctC>ctT	p.L229L	MAP2K6_ENST00000589647.1_Silent_p.L173L	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	229	Protein kinase.				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					ACCCAGAGCTCAACCAGAAGG	0.438000													60	15					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25263871	25263871	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:25263871C>T	ENST00000216962.4	+	13	1688	c.1578C>T	c.(1576-1578)gtC>gtT	p.V526V		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	526					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TGCCGCTGGTCAGTGACGAGG	0.612000													29	64					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124412806	124412806	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:124412806G>C	ENST00000306842.2	-	1	769	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CCAAAGAAAAGAGAAACTACA	0.453000													7	41					0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120859263	120859263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:120859263G>A	ENST00000313655.4	-	4	758	c.544C>T	c.(544-546)Caa>Taa	p.Q182*		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	182					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTTGTAATTGGGTCATTATT	0.323000													20	39					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86086281	86086281	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:86086281G>A	ENST00000445632.2	+	1	348	c.76G>A	c.(76-78)Gag>Aag	p.E26K	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Missense_Mutation_p.E26K	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	26										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GCTGAGCCAGGAGGGTAAGCG	0.627000													4	55					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76502881	76502881	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:76502881C>G	ENST00000389840.5	-	30	4836	c.4712G>C	c.(4711-4713)aGa>aCa	p.R1571T	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1572T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGCCAGTCTTTTCGTCTC	0.547000													23	72					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31671196	31671196	+	Silent	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:31671196C>A	ENST00000331728.4	+	15	1788	c.1674C>A	c.(1672-1674)ctC>ctA	p.L558L	LIMK2_ENST00000444929.2_Silent_p.L312L|LIMK2_ENST00000340552.4_Silent_p.L537L|LIMK2_ENST00000406516.1_Silent_p.L480L|LIMK2_ENST00000333611.4_Silent_p.L537L|LIMK2_ENST00000467301.1_3'UTR	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	558	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACTTTGGCCTCAACGTGAAGC	0.542000													20	96					4.54149e-19	4.94517e-19	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139186278	139186278	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:139186278C>T	ENST00000423192.1	+	11	1598	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	ECT2L_ENST00000541398.1_Silent_p.F410F|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Silent_p.F479F			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	479					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATCCTTTCTTCAAGGAACTGC	0.438000			"""N, Splice, Mis"""		ETP ALL								9	42					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46033721	46033721	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:46033721G>A	ENST00000372070.3	+	6	1171	c.424G>A	c.(424-426)Gag>Aag	p.E142K	AKR1A1_ENST00000351829.4_Missense_Mutation_p.E142K|AKR1A1_ENST00000473038.1_3'UTR	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	142					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					CCACTACAAGGAGACTTGGAA	0.567000													5	24					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33588718	33588718	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:33588718C>G	ENST00000170564.2	+	8	1224	c.910C>G	c.(910-912)Cta>Gta	p.L304V		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	304						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CACAGAAACTCTATCCAAGTA	0.458000													21	143					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425151	179425151	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:179425151A>G	ENST00000589042.1	-	326	85932	c.85708T>C	c.(85708-85710)Tgc>Cgc	p.C28570R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C19505R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C19697R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C26002R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C26929R|TTN_ENST00000359218.5_Missense_Mutation_p.C19630R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26929	Ig-like 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGACCAGCAAAGTGTCATA	0.408000													16	8					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177287	91177287	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:91177287G>A	ENST00000371795.4	+	2	544	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	IFIT5_ENST00000416601.1_Missense_Mutation_p.E111K	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	111							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GGACCAGCTTGAAGAAGCTCA	0.428000													10	53					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70037752	70037752	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:70037752C>T	ENST00000370598.1	+	22	3827	c.3006C>T	c.(3004-3006)acC>acT	p.T1002T	BAI3_ENST00000238918.8_Silent_p.T208T	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1002					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TAGGCTTCACCAGAACAAAAG	0.393000													12	59					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048689	6048689	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:6048689G>A	ENST00000316650.5	-	1	282	c.246C>T	c.(244-246)ctC>ctT	p.L82L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGACGGTGAGGCAGAGCA	0.572000													7	31					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291172	62291172	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:62291172T>G	ENST00000378024.4	-	5	10991	c.10717A>C	c.(10717-10719)Aaa>Caa	p.K3573Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3573					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGCCCTTTCAGATCCCCT	0.473000													39	163					0	0	1	0	0
C2	717	broad.mit.edu	37	6	31902153	31902153	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:31902153G>A	ENST00000418949.2	+	6	976	c.926G>A	c.(925-927)aGa>aAa	p.R309K	C2_ENST00000469372.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000299367.5_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron	NM_001282459.1	NP_001269388.1			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCCCTCCTCAGAACCCCACTC	0.483000													9	55					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726928	91726928	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:91726928G>C	ENST00000359028.2	+	42	10664	c.10439G>C	c.(10438-10440)aGa>aCa	p.R3480T	AKAP9_ENST00000356239.3_Missense_Mutation_p.R3476T|AKAP9_ENST00000358100.2_Missense_Mutation_p.R3426T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3480					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACCAGTGATAGAACTAGAAAT	0.363000			T	BRAF	papillary thyroid								25	53					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612857	7612857	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:7612857C>T	ENST00000226091.2	+	5	1383	c.986C>T	c.(985-987)cCc>cTc	p.P329L		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CAGGATGGGCCCCCCCAGAGC	0.582000													20	32					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15747918	15747918	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:15747918G>A	ENST00000281171.4	+	26	3924	c.3594G>A	c.(3592-3594)aaG>aaA	p.K1198K	PTPRO_ENST00000348962.2_Silent_p.K1170K|PTPRO_ENST00000542557.1_Silent_p.K359K|PTPRO_ENST00000445537.2_Silent_p.K387K|PTPRO_ENST00000442921.2_Silent_p.K387K|PTPRO_ENST00000544244.1_Silent_p.K359K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1198						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.K1198K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGTGGATGAAGAAGAAGCAGC	0.423000													6	70					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73767200	73767200	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:73767200C>T	ENST00000373115.4	+	3	848	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	137					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						ACGTGCTGCTCATGGCCACCA	0.672000													6	9					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31827562	31827562	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:31827562C>T	ENST00000375631.4	-	6	1311	c.1182G>A	c.(1180-1182)gaG>gaA	p.E394E		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	394						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCCGGCCTTTCTCATACAGGA	0.582000													30	105					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049368	36049368	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:36049368C>T	ENST00000282507.3	-	4	567	c.466G>A	c.(466-468)Gag>Aag	p.E156K	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E122K|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	156						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCAAGCTTCTCAGCAATCAGG	0.398000													14	51					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76817426	76817426	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:76817426C>T	ENST00000286719.7	-	2	409	c.53G>A	c.(52-54)aGa>aAa	p.R18K	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	18					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACACGTACCTCTCTCTGCATT	0.517000											OREG0016229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	52					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57889713	57889713	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:57889713C>G	ENST00000381227.1	+	20	3146	c.2733C>G	c.(2731-2733)ctC>ctG	p.L911L	POLR2B_ENST00000441246.2_Silent_p.L904L|POLR2B_ENST00000314595.5_Silent_p.L911L|POLR2B_ENST00000431623.2_Silent_p.L836L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	911					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGGTAACTCTCAATCAGGAAG	0.368000													10	84					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115099845	115099845	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:115099845G>C	ENST00000452722.3	-	5	729	c.709C>G	c.(709-711)Cta>Gta	p.L237V	CADM1_ENST00000331581.6_Missense_Mutation_p.L237V|CADM1_ENST00000536727.1_Missense_Mutation_p.L237V|CADM1_ENST00000537058.1_Missense_Mutation_p.L237V|CADM1_ENST00000542447.2_Missense_Mutation_p.L237V|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGTACTTCTAGATACCGCTGG	0.493000													15	32					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125231981	125231981	+	RNA	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:125231981C>T	ENST00000439075.1	-	0	2764					NR_026876.1																						TAATATCTCTCAGCACAATTT	0.249000													4	13					0	0	1	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030355	10030355	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:10030355C>T	ENST00000378380.3	+	6	1467	c.1138C>T	c.(1138-1140)Cac>Tac	p.H380Y	SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.H380Y|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TGCCATCGCTCACCTTCATGA	0.453000													14	101					0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115489207	115489207	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:115489207G>C	ENST00000369321.2	+	8	1239	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	CASP7_ENST00000369315.1_Missense_Mutation_p.E274Q|CASP7_ENST00000369331.4_3'UTR|CASP7_ENST00000369318.3_Missense_Mutation_p.E274Q|CASP7_ENST00000452490.2_Missense_Mutation_p.E249Q|CASP7_ENST00000345633.4_Missense_Mutation_p.E274Q	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	274					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CAGGCACTTTGAGTCTCAGTC	0.507000													31	129					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901494	24901494	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:24901494C>A	ENST00000251343.5	+	3	1166	c.1027C>A	c.(1027-1029)Ctc>Atc	p.L343I	KHNYN_ENST00000556842.1_Missense_Mutation_p.L343I|KHNYN_ENST00000553935.1_Missense_Mutation_p.L343I			O15037	KHNYN_HUMAN	KH and NYN domain containing	343								p.L344del(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AGGAGCCTCCCTCCTCCAGCG	0.667000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	103					0.000274275	0.000279989	1	1	0
PIEZO2	63895	broad.mit.edu	37	18	10696247	10696247	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:10696247C>T	ENST00000302079.6	-	43	6675	c.6676G>A	c.(6676-6678)Gag>Aag	p.E2226K	PIEZO2_ENST00000285141.4_Missense_Mutation_p.E81K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.E2251K|PIEZO2_ENST00000538948.1_Missense_Mutation_p.E183K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.E2226K			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2226						integral to membrane	ion channel activity										ACCTGGTCCTCTGACAGTGAA	0.537000													5	38					0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27908150	27908150	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:27908150G>C	ENST00000081029.3	+	8	810	c.739G>C	c.(739-741)Gac>Cac	p.D247H	MRPS35_ENST00000538315.1_3'UTR	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	247					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GACTGAAGCAGACATGGAAGA	0.313000													22	79					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40627645	40627645	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr21:40627645C>G	ENST00000342449.3	-	19	2259	c.2181G>C	c.(2179-2181)caG>caC	p.Q727H	BRWD1_ENST00000380800.3_Missense_Mutation_p.Q727H|BRWD1_ENST00000333229.2_Missense_Mutation_p.Q727H	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGTAGCAATCTGACTGCGTG	0.453000													25	45					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44642326	44642326	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:44642326G>A	ENST00000372330.3	+	10	1660	c.1641G>A	c.(1639-1641)ggG>ggA	p.G547G	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	547	Hemopexin-like 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	AGGGCAGGGGGAGCCGGCCGC	0.642000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	27					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452748	2452748	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:2452748C>T	ENST00000378466.3	-	3	226	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	PANK4_ENST00000435556.3_Missense_Mutation_p.E72K|PANK4_ENST00000491212.1_5'UTR	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	72					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGTTCACGTTCTGTGTCCTGG	0.562000													27	68					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39913728	39913728	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:39913728G>C	ENST00000564288.1	+	83	20769	c.19992G>C	c.(19990-19992)ctG>ctC	p.L6664L	MACF1_ENST00000539005.1_Silent_p.L4475L|MACF1_ENST00000289893.4_Silent_p.L5107L|MACF1_ENST00000567887.1_Silent_p.L6701L|MACF1_ENST00000361689.2_Silent_p.L4605L|MACF1_ENST00000317713.7_Silent_p.L4605L|MACF1_ENST00000372915.3_Silent_p.L6563L|MACF1_ENST00000545844.1_Silent_p.L4605L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6673					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAAAAAACTGATTGACTGGC	0.368000													16	63					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101929698	101929698	+	Silent	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr15:101929698C>A	ENST00000348070.1	-	10	1277	c.1278G>T	c.(1276-1278)gcG>gcT	p.A426A	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.A426A|PCSK6_ENST00000398181.2_Silent_p.A426A|PCSK6_ENST00000331826.7_Silent_p.A261A|PCSK6_ENST00000344273.2_Silent_p.A426A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	427	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGATGATGCCCGCCACCATGG	0.502000													12	44					0.0167234	0.0167996	1	1	0
MCHR2	84539	broad.mit.edu	37	6	100368957	100368957	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:100368957G>C	ENST00000281806.2	-	6	1196	c.882C>G	c.(880-882)ctC>ctG	p.L294L	MCHR2_ENST00000369212.2_Silent_p.L294L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	294						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGGCATAGCTGAGACAGATGG	0.478000													21	71					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923427	159923427	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:159923427G>C	ENST00000368093.3	-	2	179	c.63C>G	c.(61-63)ctC>ctG	p.L21L	SLAMF9_ENST00000368092.3_Silent_p.L21L	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	21						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCATCTCCAGAGTCTCCTTT	0.542000													12	56					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89186272	89186272	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:89186272C>T	ENST00000608933.1	-	6	1257	c.868G>A	c.(868-870)Gac>Aac	p.D290N	PPM1K_ENST00000295908.7_Intron|PPM1K_ENST00000508256.1_Missense_Mutation_p.D71N	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AGGAAGCTGTCATCAGCATGA	0.413000													17	89					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863379	23863379	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:23863379G>A	ENST00000405093.3	-	21	2653	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	MYH6_ENST00000356287.3_Silent_p.I861I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	861					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCGTCTCTTTGATGCGCCCGA	0.572000													19	170					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230472984	230472984	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:230472984C>T	ENST00000321327.2	-	6	1034	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L	PGBD5_ENST00000525115.1_Silent_p.L246L|PGBD5_ENST00000391860.1_Silent_p.L200L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	246						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTTATTCTTCAGCGCATCCA	0.572000													24	25					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639770	9639770	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:9639770G>A	ENST00000593003.1	-	6	1314	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ZNF426_ENST00000535489.1_Silent_p.F317F|ZNF426_ENST00000253115.2_Silent_p.F317F			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGGAATAATTGAAGGCTTTCC	0.443000													14	54					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475994	32475994	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:32475994C>G	ENST00000404025.2	-	5	1427	c.939G>C	c.(937-939)ctG>ctC	p.L313L	NLRC4_ENST00000360906.5_Silent_p.L313L|NLRC4_ENST00000402280.1_Silent_p.L313L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	313	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTCCTTGATCAGCACTTCTC	0.527000													14	84					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71537979	71537979	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:71537979C>G	ENST00000393330.2	-	6	627	c.75G>C	c.(73-75)ttG>ttC	p.L25F	TSPAN8_ENST00000546561.1_Missense_Mutation_p.L25F|TSPAN8_ENST00000247829.3_Missense_Mutation_p.L25F|TSPAN8_ENST00000552786.1_5'UTR			P19075	TSN8_HUMAN	tetraspanin 8	25					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATGCTAGGATCAAGATACCAC	0.363000													3	22					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523594	95523594	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:95523594G>C	ENST00000297591.5	-	13	3284	c.3209C>G	c.(3208-3210)aCt>aGt	p.T1070S	KIAA1429_ENST00000437199.1_Missense_Mutation_p.T1070S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.T1070S|KIAA1429_ENST00000523405.1_5'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1070					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTGTGTAAAAGTCAGTAAAAT	0.348000													7	17					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276420	186276420	+	Silent	SNP	A	A	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:186276420A>G	ENST00000445192.2	+	7	1614	c.1569A>G	c.(1567-1569)gcA>gcG	p.A523A	PRG4_ENST00000367485.4_Silent_p.A430A|PRG4_ENST00000367483.4_Silent_p.A482A|PRG4_ENST00000367486.3_Silent_p.A480A|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	523	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGGAGCCTGCACCCACCACCA	0.637000													15	72					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97267467	97267467	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:97267467C>T	ENST00000599854.1	-	20	2735	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.P663P|KANSL3_ENST00000431828.1_Silent_p.P843P	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	869	Ser-rich.																TGATCCTGCTCGGCTGGCCAC	0.557000													3	13					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302775	145302775	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:145302775T>G	ENST00000342960.5	+	8	1248	c.1213T>G	c.(1213-1215)Tat>Gat	p.Y405D	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Missense_Mutation_p.Y134D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	405										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)		CCTCACTCCGTATGAGCCGGA	0.577000													5	245					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35219631	35219631	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:35219631G>A	ENST00000373874.2	+	3	710	c.511G>A	c.(511-513)Gag>Aag	p.E171K	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.E171K|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	171	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GACCAGGGCTGAGGCTGGAAG	0.627000													30	27					0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61877969	61877969	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:61877969C>G	ENST00000578681.1	+	7	1214	c.613C>G	c.(613-615)Cat>Gat	p.H205D	DDX42_ENST00000457800.2_Missense_Mutation_p.H205D|DDX42_ENST00000389924.2_Missense_Mutation_p.H205D|DDX42_ENST00000583590.1_Missense_Mutation_p.H205D|DDX42_ENST00000359353.5_Missense_Mutation_p.H86D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	205					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCCCATTGATCATTCAGAGGT	0.378000													23	205					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815069	106815069	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:106815069G>A	ENST00000407775.2	+	8	3009	c.2759G>A	c.(2758-2760)gGg>gAg	p.G920E	RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G651E|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G788E|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G788E	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	920					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAAAAATGGGAATTTGAAG	0.458000													4	14					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62309638	62309638	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:62309638G>A	ENST00000318100.4	+	12	1803	c.976G>A	c.(976-978)Gag>Aag	p.E326K	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E326K|RTEL1_ENST00000360203.5_Missense_Mutation_p.E326K|RTEL1_ENST00000370018.3_Missense_Mutation_p.E326K|RTEL1_ENST00000508582.2_Missense_Mutation_p.E350K	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	326					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCTGCGCCTGGAGGGGGCCAT	0.667000													5	33					0	0	1	0	0
NIPAL2	79815	broad.mit.edu	37	8	99206967	99206967	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:99206967C>A	ENST00000341166.3	-	10	1283	c.1028G>T	c.(1027-1029)gGa>gTa	p.G343V	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000430223.2_Missense_Mutation_p.G343V	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	343						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						AGGAATATTTCCAAAATCAAT	0.279000													4	38					0.00024832	0.000254081	1	1	0
IL10	3586	broad.mit.edu	37	1	206945632	206945632	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:206945632C>T	ENST00000423557.1	-	1	207	c.149G>A	c.(148-150)aGa>aAa	p.R50K		NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	50					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTCTTCACTCTGCTGAAGGC	0.532000													27	21					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25268604	25268604	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:25268604C>T	ENST00000218548.6	+	11	1751	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L	ATP12A_ENST00000381946.3_Missense_Mutation_p.S467L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	467					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAGATGCCTCAGAAACTGCT	0.378000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	123					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114325920	114325920	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:114325920C>T	ENST00000335678.6	+	3	1166	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	312	Protein kinase.				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			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)			GCACCAGAGGCGGATCGTCTA	0.552000													8	25					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342797	118342797	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:118342797C>T	ENST00000534358.1	+	3	946	c.923C>T	c.(922-924)tCa>tTa	p.S308L	KMT2A_ENST00000354520.4_Missense_Mutation_p.S308L|KMT2A_ENST00000389506.5_Missense_Mutation_p.S308L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGGCCTCCATCAACAGAAAGG	0.468000													17	91					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88987007	88987007	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:88987007G>A	ENST00000237596.2	+	12	2400	c.2334G>A	c.(2332-2334)atG>atA	p.M778I	PKD2_ENST00000502363.1_Missense_Mutation_p.M196I|PKD2_ENST00000508588.1_Missense_Mutation_p.M196I|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	778	EF-hand domain.|EF-hand.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATCAGCAGATGAGAGACGACT	0.443000													9	46					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67188596	67188596	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:67188596C>T	ENST00000345057.4	-	5	1363	c.895G>A	c.(895-897)Gag>Aag	p.E299K	TRADD_ENST00000486556.1_Missense_Mutation_p.E239K	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	299					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCAAGTCCTCTGCCAGGCTG	0.672000													9	25					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6741137	6741137	+	Splice_Site	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:6741137G>A	ENST00000600428.1	+	2	462		c.e2+1		TRIP10_ENST00000313244.9_Splice_Site|TRIP10_ENST00000596543.1_Splice_Site|TRIP10_ENST00000596758.1_Splice_Site|TRIP10_ENST00000313285.8_Splice_Site			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10						actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AACAACTGCGGTGAGACCCTG	0.632000													12	12					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48428737	48428737	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:48428737C>T	ENST00000435803.1	+	37	11598	c.11574C>T	c.(11572-11574)gtC>gtT	p.V3858V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3858	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGGCTGTGGTCCAAGACCTCA	0.552000													10	28					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29542635	29542635	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:29542635G>T	ENST00000373791.3	-	3	432	c.60C>A	c.(58-60)ttC>ttA	p.F20L	MECR_ENST00000263702.6_Missense_Mutation_p.F96L|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	96					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GTTCAGGAAGGAATCCGTAGT	0.547000													27	57					3.65163e-15	3.95668e-15	1	1	0
UGGT1	56886	broad.mit.edu	37	2	128903520	128903520	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:128903520C>A	ENST00000375990.3	+	18	2326	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	UGGT1_ENST00000259253.6_Missense_Mutation_p.F665L			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	665					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCACCACCTTCTTCCAAAGAG	0.423000													13	51					6.72482e-11	7.14614e-11	1	1	0
CDSN	1041	broad.mit.edu	37	6	31083952	31083952	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:31083952G>A	ENST00000376288.2	-	2	1466	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	480					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGGCACCAGCGGAGGGATCAG	0.622000													7	43					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565557	56565557	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:56565557G>A	ENST00000394023.3	-	21	2196	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	SMARCC2_ENST00000347471.4_Silent_p.F697F|SMARCC2_ENST00000550164.1_Silent_p.F697F|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Silent_p.F666F	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	666					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCGACTGACTGAAGGGGATGG	0.572000													10	63					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25418938	25418938	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:25418938G>A	ENST00000255324.5	+	21	3032	c.2980G>A	c.(2980-2982)Gag>Aag	p.E994K	RNF17_ENST00000339524.3_Missense_Mutation_p.E46K|RNF17_ENST00000381921.1_Missense_Mutation_p.E994K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	994	Tudor 2.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CACATTGGTAGAGGTAAATTA	0.343000													5	45					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32422846	32422846	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:32422846C>T	ENST00000282587.5	+	10	653	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	SLC30A6_ENST00000379343.2_Missense_Mutation_p.L246F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L206F|SLC30A6_ENST00000357055.3_Missense_Mutation_p.L9F|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L132F|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L177F	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	206						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTGATTGATCTTGCTGGAGC	0.343000													26	180					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	874759	874759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:874759C>T	ENST00000342066.3	+	7	708	c.625C>T	c.(625-627)Cag>Tag	p.Q209*		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	209						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGAGGACCCTCAGCGCCTCTA	0.692000													8	24					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61677035	61677035	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:61677035G>A	ENST00000381103.2	+	20	2415	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K	KIF2A_ENST00000506857.1_Missense_Mutation_p.E618K|KIF2A_ENST00000407818.3_Missense_Mutation_p.E702K|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Missense_Mutation_p.E664K	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	664					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TACACAACTTGAAGCTATTCT	0.343000													31	76					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395581	160395581	+	Silent	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:160395581G>T	ENST00000320767.2	+	1	634	c.447G>T	c.(445-447)cgG>cgT	p.R149R		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	149					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GCAGTGACCGGAACTGGTATG	0.502000													10	42					2.17888e-05	2.25032e-05	1	1	0
ACOX1	51	broad.mit.edu	37	17	73969830	73969830	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:73969830G>A	ENST00000301608.4	-	3	366	c.306C>T	c.(304-306)ctC>ctT	p.L102L	ACOX1_ENST00000537812.1_Intron|ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000293217.5_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	102					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TGGAGTAATTGAGGCCCACAG	0.448000													13	29					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52834502	52834502	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:52834502C>T	ENST00000373980.4	+	1	569	c.152C>T	c.(151-153)tCg>tTg	p.S51L	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	45	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAGTACCGCTCGGTGATCCGA	0.647000													6	17					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265240	42265240	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:42265240G>C	ENST00000199764.6	+	3	726	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	170	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTGTGAACCTGAGGTTCAGAA	0.567000													37	196					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295023	160295023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:160295023G>A	ENST00000392783.2	-	8	1579	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q360*|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q362*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q360*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCCTTTGCCTGAGAGCTTTGG	0.433000													25	56					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301281	110301281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:110301281G>A	ENST00000369805.3	-	7	698	c.469C>T	c.(469-471)Cga>Tga	p.R157*	EPS8L3_ENST00000361965.4_Nonsense_Mutation_p.R156*|EPS8L3_ENST00000494151.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Nonsense_Mutation_p.R156*	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	156						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTCCAAGTCGAGGTCTGCTG	0.622000													9	52					0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155100011	155100011	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:155100011G>A	ENST00000344756.4	+	6	691	c.480G>A	c.(478-480)agG>agA	p.R160R	INSIG1_ENST00000340368.4_3'UTR|INSIG1_ENST00000342407.5_3'UTR	NM_198336.2	NP_938150.2	O15503	INSI1_HUMAN	insulin induced gene 1	0					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGAGCAAGGAAGATTTTGG	0.358000													12	49					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612247	8612247	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:8612247C>G	ENST00000382073.3	+	3	362	c.176C>G	c.(175-177)tCa>tGa	p.S59*		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	59					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GAACTACACTCATATCATTCA	0.368000													22	161					0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100964784	100964784	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:100964784C>A	ENST00000336454.3	+	15	2076	c.1721C>A	c.(1720-1722)tCt>tAt	p.S574Y	CDC14A_ENST00000361544.6_Missense_Mutation_p.S574Y|CDC14A_ENST00000544534.1_Missense_Mutation_p.S574Y|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.S516Y	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	574					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GGGCTTTCTTCTTCTTCAGCG	0.592000													7	59					5.18039e-06	5.3628e-06	1	1	0
SYT4	6860	broad.mit.edu	37	18	40850554	40850554	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:40850554G>C	ENST00000255224.3	-	4	1398	c.1030C>G	c.(1030-1032)Cat>Gat	p.H344D	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.H326D	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	344	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTCTTCACATGAGTCTTCTTC	0.408000													16	74					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50671080	50671080	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:50671080G>A	ENST00000216373.5	-	2	409	c.135C>T	c.(133-135)ctC>ctT	p.L45L	SOS2_ENST00000543680.1_Silent_p.L45L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	45					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAATATAATAGAGAGACTCTT	0.328000													30	193					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674623	4674623	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:4674623C>T	ENST00000530215.1	+	2	238	c.197C>T	c.(196-198)tCa>tTa	p.S66L	OR51E1_ENST00000396952.5_Silent_p.L289L			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCCTGTGCTCAACCCAATTG	0.517000													18	82					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063459	59063459	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:59063459C>G	ENST00000600118.1	-	3	867	c.442G>C	c.(442-444)Gat>Cat	p.D148H	CHMP2A_ENST00000601220.1_Missense_Mutation_p.D148H|CHMP2A_ENST00000312547.2_Missense_Mutation_p.D148H			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	148	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGGCATCATCAATGGCATCA	0.517000													20	124					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837692	12837692	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:12837692G>A	ENST00000357726.4	+	3	1429	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	468										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTATGACCTGGAGCCCAGTCA	0.502000													12	56					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101193	119101193	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:119101193G>C	ENST00000264245.4	+	5	1018	c.486G>C	c.(484-486)aaG>aaC	p.K162N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	162	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAGCAGCAAGACCAACATGC	0.557000													12	79					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42583557	42583557	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:42583557G>C	ENST00000600245.1	+	2	1454	c.799G>C	c.(799-801)Gac>Cac	p.D267H	ZNF574_ENST00000359044.4_Missense_Mutation_p.D267H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.D357H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GTCTCAGCCTGACCCCTTGCC	0.637000													10	52					0	0	1	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23001980	23001980	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:23001980C>T	ENST00000312584.3	-	7	1031	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	313					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGCTGTGGCTCCTCTGGCAAC	0.582000													4	35					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169382907	169382907	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:169382907G>A	ENST00000511577.1	-	5	796	c.549C>T	c.(547-549)ctC>ctT	p.L183L	DDX60L_ENST00000260184.7_Silent_p.L183L|DDX60L_ENST00000505890.1_Silent_p.L183L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	183							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATAAAATCTGAGAGTATCAG	0.338000													4	20					0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331539	42331539	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:42331539C>T	ENST00000217026.4	+	8	1488	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	MYBL2_ENST00000396863.4_Missense_Mutation_p.S430F	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	454						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCTCGCCCTCCCAGGTGCGT	0.582000													6	49					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													6	114					0	0	1	0	0
APOLD1	81575	broad.mit.edu	37	12	12940310	12940310	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:12940310G>T	ENST00000356591.4	+	2	556	c.471G>T	c.(469-471)agG>agT	p.R157S	APOLD1_ENST00000326765.6_Missense_Mutation_p.R188S	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	188					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		AGTGCGGGAGGAACGCCTCCA	0.627000													23	157					2.79863e-10	2.9597e-10	1	1	0
GCSAM	257144	broad.mit.edu	37	3	111845849	111845849	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:111845849C>T	ENST00000308910.4	-	4	359	c.175G>A	c.(175-177)Gat>Aat	p.D59N	GCSAM_ENST00000484193.1_Missense_Mutation_p.D61N|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		TTTTGGGAATCTTGCCTCTTT	0.323000													6	37					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612000													4	142					0	0	1	0	0
CAPS	828	broad.mit.edu	37	19	5915249	5915249	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:5915249C>T	ENST00000588776.1	+	5	3111	c.744C>T	c.(742-744)ttC>ttT	p.F248F	CAPS_ENST00000222125.5_Silent_p.F162F|CAPS_ENST00000452990.2_Silent_p.F135F			Q13938	CAYP1_HUMAN	calcyphosine	162					intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						TGGCGGAATTCCAGGACTACT	0.672000													8	23					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648120	24648120	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:24648120G>C	ENST00000311457.3	+	15	1797	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q	REC8_ENST00000559919.1_Missense_Mutation_p.E400Q			O95072	REC8_HUMAN	REC8 meiotic recombination protein	401	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		AAGTGAGATTGAGGTAACTGC	0.587000													38	246					0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	210404	210404	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:210404G>A	ENST00000246105.4	+	2	575	c.544G>A	c.(544-546)Gag>Aag	p.E182K		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	182					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GGAAGCAGAAGAGCAGTAATG	0.448000													6	32					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52223433	52223433	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:52223433G>T	ENST00000282588.6	+	20	3091	c.2633G>T	c.(2632-2634)tGt>tTt	p.C878F		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	878					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAAGACAGTTGTGAATCTAAT	0.363000													15	70					0.000308642	0.000314344	1	1	0
EXOSC9	5393	broad.mit.edu	37	4	122723908	122723908	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:122723908G>A	ENST00000512454.1	+	2	409	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	EXOSC9_ENST00000379663.3_Missense_Mutation_p.E81K|EXOSC9_ENST00000243498.5_Missense_Mutation_p.E81K|EXOSC9_ENST00000509980.1_3'UTR			Q06265	EXOS9_HUMAN	exosome component 9	81	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTTTAACCTTGAACTCTCTCA	0.403000													13	88					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198084	52198084	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:52198084G>C	ENST00000371471.2	-	2	1707	c.1282C>G	c.(1282-1284)Ctg>Gtg	p.L428V	ZNF217_ENST00000302342.3_Missense_Mutation_p.L428V			O75362	ZN217_HUMAN	zinc finger protein 217	428					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTTTCATCCAGAGGGGCGGCG	0.632000													11	50					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135443724	135443724	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:135443724G>T	ENST00000394143.1	+	12	7546	c.7255G>T	c.(7255-7257)Gat>Tat	p.D2419Y	GPR112_ENST00000394141.1_Missense_Mutation_p.D2214Y|GPR112_ENST00000412101.1_Missense_Mutation_p.D2214Y|GPR112_ENST00000287534.4_Missense_Mutation_p.D2217Y|GPR112_ENST00000370652.1_Missense_Mutation_p.D2419Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2419					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAAAATGAGGATGGAAATGC	0.398000													10	38					0.000673444	0.000684306	1	1	0
CEP250	11190	broad.mit.edu	37	20	34084431	34084431	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:34084431G>A	ENST00000397527.1	+	25	3913	c.3193G>A	c.(3193-3195)Gaa>Aaa	p.E1065K	CEP250_ENST00000342580.4_Missense_Mutation_p.E1009K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1065	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GATGGAAAAGGAACAGAGACT	0.473000													18	99					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34489901	34489901	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:34489901G>C	ENST00000241052.4	+	11	1482	c.1393G>C	c.(1393-1395)Ggc>Cgc	p.G465R		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	465					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GAACATTGCCGGCCACCTGAA	0.493000													29	60					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116436137	116436137	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:116436137G>A	ENST00000397752.3	+	21	4332	c.4132G>A	c.(4132-4134)Gag>Aag	p.E1378K	MET_ENST00000539704.1_Missense_Mutation_p.E248K|MET_ENST00000318493.6_Missense_Mutation_p.E1396K	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1378	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CGCTGATGATGAGGTGGACAC	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				33	127					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36273703	36273703	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:36273703G>A	ENST00000007510.4	+	15	1497	c.1353G>A	c.(1351-1353)gcG>gcA	p.A451A	ARHGAP33_ENST00000378944.5_Silent_p.A315A|ARHGAP33_ENST00000314737.5_Silent_p.A451A			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	451	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCGCATGGCGAGACACAGTG	0.657000													6	31					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43043207	43043207	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:43043207G>A	ENST00000316099.4	+	5	642	c.553G>A	c.(553-555)Gca>Aca	p.A185T	HNF4A_ENST00000415691.2_Missense_Mutation_p.A185T|HNF4A_ENST00000457232.1_Missense_Mutation_p.A163T|HNF4A_ENST00000609795.1_Missense_Mutation_p.A163T|HNF4A_ENST00000443598.2_Missense_Mutation_p.A185T|HNF4A_ENST00000316673.4_Missense_Mutation_p.A163T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCAGCATCGCAGATGTGTG	0.572000													9	50					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105452842	105452842	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:105452842G>A	ENST00000547315.1	+	1	713	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	25										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			GCTTCCCTCCGAGTGGCACCT	0.642000													11	32					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637394	248637394	+	Missense_Mutation	SNP	C	C	G	rs145535832	byFrequency	TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:248637394C>G	ENST00000359594.2	+	1	768	c.743C>G	c.(742-744)tCc>tGc	p.S248C		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ACCTGCTCCTCCCACATGATC	0.562000													7	161					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51708532	51708532	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:51708532C>G	ENST00000415259.1	+	2	1293	c.212C>G	c.(211-213)tCt>tGt	p.S71C	TEX264_ENST00000341333.5_Missense_Mutation_p.S71C|TEX264_ENST00000395057.1_Missense_Mutation_p.S71C|TEX264_ENST00000457573.1_Missense_Mutation_p.S71C|TEX264_ENST00000416589.1_Missense_Mutation_p.S71C			Q9Y6I9	TX264_HUMAN	testis expressed 264	71						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGCAGCATCTCTCCCAAGCTC	0.602000													11	61					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779888	36779888	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:36779888C>G	ENST00000416516.2	-	2	753	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	88						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGTCCTCGCTCTGTCATCTAG	0.617000													19	177					0	0	1	0	0
ANKRD40	91369	broad.mit.edu	37	17	48776867	48776867	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:48776867G>C	ENST00000285243.6	-	3	940	c.671C>G	c.(670-672)cCg>cGg	p.P224R		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	224	Pro-rich.							p.P224Q(1)|p.P224R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGCTTGGACGGGACAGAAGA	0.527000													21	145					0	0	1	0	0
HSD17B8	7923	broad.mit.edu	37	6	33172455	33172455	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:33172455C>G	ENST00000374662.3	+	1	37	c.10C>G	c.(10-12)Cag>Gag	p.Q4E		NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	4					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	CATGGCGTCTCAGCTCCAGAA	0.652000													7	27					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22024201	22024201	+	Splice_Site	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:22024201G>A	ENST00000335025.8	+	2	123		c.e2-1		PPIL2_ENST00000492445.2_Splice_Site|PPIL2_ENST00000398831.3_Splice_Site|PPIL2_ENST00000412327.1_Splice_Site|PPIL2_ENST00000406385.1_Splice_Site|PPIL2_ENST00000456792.2_Splice_Site			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CTCTTCTTCAGGTACATTACC	0.433000													8	32					0	0	1	0	0
NUDCD2	134492	broad.mit.edu	37	5	162884087	162884087	+	Splice_Site	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:162884087C>G	ENST00000302764.4	-	3	328		c.e3-1		NUDCD2_ENST00000517501.1_Intron|NUDCD2_ENST00000519395.1_Splice_Site	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2							intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTTCTGTCCTCTAAAAAAAAA	0.368000													11	32					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1936947	1936947	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:1936947G>A	ENST00000263083.6	+	2	270	c.225G>A	c.(223-225)aaG>aaA	p.K75K	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	75					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCAGGCCAAGAAGGGTGAGC	0.592000													14	46					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43087450	43087450	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:43087450C>G	ENST00000244336.5	-	5	1099	c.998G>C	c.(997-999)aGa>aCa	p.R333T	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R35T|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	333					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GACAGTGGCTCTAGCTGAGAG	0.463000													13	56					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2762188	2762188	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr18:2762188C>T	ENST00000320876.6	+	36	4858	c.4520C>T	c.(4519-4521)tCa>tTa	p.S1507L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1507L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1507					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AATGTTCGCTCAGTTGCCAGT	0.373000													9	44					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31625065	31625065	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:31625065C>G	ENST00000375916.3	+	3	829	c.333C>G	c.(331-333)ctC>ctG	p.L111L	APOM_ENST00000375920.4_Silent_p.L39L|APOM_ENST00000375918.2_Silent_p.L39L	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	111					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GCACAGATCTCAGAACTGAAG	0.552000													4	65					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916324	72916324	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:72916324G>C	ENST00000319642.1	-	2	789	c.607C>G	c.(607-609)Cag>Gag	p.Q203E		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	203					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCGTGGCCTGAGAGTACGGC	0.677000													44	12					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33261722	33261722	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:33261722C>G	ENST00000444031.2	-	11	1373	c.1229G>C	c.(1228-1230)gGc>gCc	p.G410A	RGL2_ENST00000497454.1_Intron|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_Intron			O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	462	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACTGCAGGAGCCAAAACTCAG	0.557000													16	115					0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124561655	124561655	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:124561655G>A	ENST00000532692.1	+	3	1710	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Missense_Mutation_p.E97K			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	97					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TGGGAAGGAGGAAGAGACATC	0.373000													19	97					0	0	1	0	0
HRASLS	57110	broad.mit.edu	37	3	192980881	192980881	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:192980881G>A	ENST00000264735.2	+	3	671	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	HRASLS_ENST00000602513.1_Missense_Mutation_p.E88K	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	88										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		TAAATACGATGAAACGTACCC	0.433000													30	113					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43297619	43297619	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:43297619G>A	ENST00000374518.5	+	13	2345	c.2282G>A	c.(2281-2283)gGa>gAa	p.G761E		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCGTGACTGGAAAGTGGGAA	0.408000													8	50					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158824528	158824528	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:158824528C>T	ENST00000262178.2	-	12	1319	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	VIPR2_ENST00000402066.1_Silent_p.L519L|VIPR2_ENST00000377633.3_Silent_p.L362L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	378					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCTCACTGTTCAGGAAACAGT	0.632000													9	28					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11504585	11504585	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:11504585G>A	ENST00000609104.1	-	15	2736	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F	USP6NL_ENST00000277575.5_Missense_Mutation_p.S798F|USP6NL_ENST00000379237.2_Missense_Mutation_p.S804F	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ACTATCTACAGAAACTGCAGG	0.532000													6	175					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646431	57646431	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:57646431C>T	ENST00000269834.1	-	5	1659	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGGTTTTTCCACATTCACT	0.398000													30	162					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24842959	24842959	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:24842959G>A	ENST00000413692.2	+	6	1951	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	NFATC4_ENST00000554591.1_Missense_Mutation_p.E603K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E553K|NFATC4_ENST00000555590.1_Missense_Mutation_p.E553K|NFATC4_ENST00000539237.2_Missense_Mutation_p.E572K|NFATC4_ENST00000422617.3_Missense_Mutation_p.E528K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E470K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E470K|NFATC4_ENST00000555453.1_Missense_Mutation_p.E528K|NFATC4_ENST00000556759.1_Missense_Mutation_p.E75K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E470K|NFATC4_ENST00000555167.1_Missense_Mutation_p.E75K|NFATC4_ENST00000424781.2_Missense_Mutation_p.E553K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E528K|NFATC4_ENST00000250373.4_Missense_Mutation_p.E540K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E572K|NFATC4_ENST00000553469.1_Missense_Mutation_p.E572K|NFATC4_ENST00000554473.1_Missense_Mutation_p.E75K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E540K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E540K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E470K	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	540	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCGGAAGGGTGAGACGGACAT	0.592000													27	234					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132242483	132242483	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:132242483C>G	ENST00000260818.6	+	51	6234	c.5986C>G	c.(5986-5988)Cta>Gta	p.L1996V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1996							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGCCTGGGTTCTAAGAAAGCC	0.418000													22	131					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857643	144857643	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:144857643G>C	ENST00000369359.4	-	42	6857	c.6819C>G	c.(6817-6819)ggC>ggG	p.G2273G	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Silent_p.G2222G|PDE4DIP_ENST00000369354.3_Silent_p.G2137G|PDE4DIP_ENST00000369356.4_Silent_p.G2137G|PDE4DIP_ENST00000313382.9_Silent_p.G2031G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2137					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCGTTTCTGAGCCAGGAGTAG	0.493000			T	PDGFRB	MPD								17	190					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	28					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391962	3391962	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:3391962G>A	ENST00000324266.5	+	2	763	c.568G>A	c.(568-570)Gag>Aag	p.E190K	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E190K	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	190							binding										TGGCGCCAGCGAGGCCTCGGC	0.711000													5	28					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084370	152084370	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:152084370C>G	ENST00000368804.1	-	2	1322	c.1323G>C	c.(1321-1323)gaG>gaC	p.E441D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	441	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctctcctgctcgt	0.697000													18	26					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82834658	82834658	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:82834658C>G	ENST00000265077.3	+	8	6401	c.5836C>G	c.(5836-5838)Cat>Gat	p.H1946D	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.H959D|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1946	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACAGTGTCTCATCCCATAGC	0.438000													22	72					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75568451	75568451	+	Silent	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:75568451G>C	ENST00000238616.5	-	15	1907	c.1749C>G	c.(1747-1749)ccC>ccG	p.P583P		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	583					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACGTTGTGTAGGGAACTTCAT	0.423000													6	78					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71211306	71211306	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:71211306G>C	ENST00000272421.6	+	6	1223	c.957G>C	c.(955-957)gaG>gaC	p.E319D	ANKRD53_ENST00000360589.3_Intron|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Missense_Mutation_p.E230D|ANKRD53_ENST00000457410.1_Intron	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	0										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TCACACCAGAGACTCTCCTAT	0.488000													8	72					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46319102	46319102	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:46319102C>T	ENST00000339464.4	-	4	1058	c.684G>A	c.(682-684)ctG>ctA	p.L228L	WNT7B_ENST00000409496.3_Silent_p.L232L|WNT7B_ENST00000410089.1_Silent_p.L212L	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	228					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ACTTCTCCTTCAGCAGGTGGC	0.642000													13	43					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262718	39262718	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:39262718G>C	ENST00000280481.7	+	1	1453	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	413					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.E413Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTGGAATTGGAGGTAGTGGA	0.547000													12	89					0	0	1	0	0
MAP3K3	4215	broad.mit.edu	37	17	61769736	61769736	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:61769736G>A	ENST00000361357.3	+	16	2020	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	MAP3K3_ENST00000577395.1_Missense_Mutation_p.E533K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.E537K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.E568K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.E564K	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	537	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GATGAGCCCTGAGGTGATCAG	0.607000													7	55					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147636	100147636	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:100147636C>T	ENST00000231461.5	-	5	1305	c.995G>A	c.(994-996)aGa>aAa	p.R332K		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	332					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TAATGGCATTCTGTGAGGGCT	0.348000													14	45					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197755629	197755629	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:197755629C>T	ENST00000354764.4	-	10	1210	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.*305*|PGAP1_ENST00000409475.1_Missense_Mutation_p.E366K	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TATATCTTCTCAGATTCCTAC	0.294000													3	20					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869971	4869971	+	Missense_Mutation	SNP	A	A	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:4869971A>C	ENST00000322101.2	-	1	543	c.468T>G	c.(466-468)atT>atG	p.I156M	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCGAAAAGAAATGGCCAGGC	0.552000													16	73					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179236858	179236858	+	Silent	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr2:179236858C>G	ENST00000190611.4	+	14	1669	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	OSBPL6_ENST00000392505.2_Silent_p.L456L|OSBPL6_ENST00000315022.2_Silent_p.L435L|OSBPL6_ENST00000357080.4_Intron|OSBPL6_ENST00000409045.3_Silent_p.L400L|OSBPL6_ENST00000409631.1_Intron|OSBPL6_ENST00000359685.3_Intron	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	431					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTAAGGCACTCAACCAGAATG	0.333000													17	32					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134425473	134425473	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:134425473C>G	ENST00000370766.3	-	5	3330	c.621G>C	c.(619-621)caG>caC	p.Q207H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	207					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGCTAACATCTGTTGATCAT	0.403000													7	11					0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753629	42753629	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:42753629G>A	ENST00000222329.4	-	4	792	c.635C>T	c.(634-636)cCg>cTg	p.P212L	ERF_ENST00000440177.2_Missense_Mutation_p.P137L|AC006486.9_ENST00000594664.1_Intron	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	212					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				ACCCAGATCCGGAGGGCCGGG	0.711000													4	14					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62028813	62028813	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:62028813C>T	ENST00000578147.1	-	14	2900	c.2824G>A	c.(2824-2826)Gac>Aac	p.D942N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D942N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	942					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAGAAAGTGTCGGTTTCCTCC	0.587000													4	65					0	0	1	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877927	4877927	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr10:4877927C>G	ENST00000298375.7	+	4	456	c.385C>G	c.(385-387)Cga>Gga	p.R129G	AKR1E2_ENST00000532248.1_Missense_Mutation_p.R129G|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R129G|AKR1E2_ENST00000334019.4_Missense_Mutation_p.R129G|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R129*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527000													5	45					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33519912	33519912	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr20:33519912C>G	ENST00000216951.2	-	10	957	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	GSS_ENST00000541098.1_Missense_Mutation_p.E159Q|GSS_ENST00000451957.2_Missense_Mutation_p.E176Q	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	287					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TGTGACCTCTCCAGCAGTAGA	0.507000													4	180					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280587	73280587	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:73280587C>G	ENST00000286657.4	-	4	642	c.606G>C	c.(604-606)aaG>aaC	p.K202N		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	202					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGCTGATCTCTTGTAGACAA	0.368000													14	125					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43770760	43770760	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:43770760C>T	ENST00000372476.3	+	2	376	c.297C>T	c.(295-297)ctC>ctT	p.L99L	TIE1_ENST00000538015.1_Silent_p.L99L|TIE1_ENST00000441333.2_Silent_p.L99L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	99	Ig-like C2-type 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTCGGACCTCGTGGGCGTCT	0.711000													4	23					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142680325	142680325	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:142680325C>T	ENST00000343796.2	-	5	2465	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	NR3C1_ENST00000416954.2_Missense_Mutation_p.R94Q|NR3C1_ENST00000503201.1_Missense_Mutation_p.R491Q|NR3C1_ENST00000231509.3_Missense_Mutation_p.R492Q|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394464.2_Missense_Mutation_p.R491Q|NR3C1_ENST00000424646.2_Missense_Mutation_p.R465Q|NR3C1_ENST00000415690.2_Missense_Mutation_p.R491Q|NR3C1_ENST00000504572.1_Missense_Mutation_p.R492Q|NR3C1_ENST00000394466.2_Missense_Mutation_p.R492Q	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	491	Hinge.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CTTTGTTTTTCGAGCTGTGGG	0.348000													11	32					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694505	153694505	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chrX:153694505G>A	ENST00000369682.3	+	15	2866	c.2691G>A	c.(2689-2691)gaG>gaA	p.E897E		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	897	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTGTGTGAGATGGAGGAGT	0.662000													10	17					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112174502	112174502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr5:112174502C>T	ENST00000457016.1	+	16	3591	c.3211C>T	c.(3211-3213)Caa>Taa	p.Q1071*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1071*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1071*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1071	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATCAAGGAATCAAAGTACAAC	0.393000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			4	31					0	0	1	0	0
KDELR3	11015	broad.mit.edu	37	22	38877348	38877348	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:38877348C>T	ENST00000216014.4	+	4	655	c.483C>T	c.(481-483)ctC>ctT	p.L161L	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Silent_p.L161L	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	161					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					ACCGGGCACTCTACCTGGCTA	0.493000													13	53					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128703774	128703774	+	Silent	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr4:128703774C>T	ENST00000296464.4	+	1	480	c.69C>T	c.(67-69)atC>atT	p.I23I	HSPA4L_ENST00000508776.1_Silent_p.I23I|HSPA4L_ENST00000439123.2_Silent_p.I54I	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGCGGCATCGAGACCATCG	0.562000											OREG0016319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	24					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101383486	101383486	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr3:101383486C>T	ENST00000312938.4	-	5	2276	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAGATGCTTCTTCTGTGTTC	0.373000													61	66					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186024594	186024594	+	Missense_Mutation	SNP	C	C	G	rs149851547		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:186024594C>G	ENST00000271588.4	+	45	7161	c.6932C>G	c.(6931-6933)tCc>tGc	p.S2311C	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2311C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2311	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAGTATCTCCTTGGAGTGT	0.473000													12	41					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54804181	54804181	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:54804181C>A	ENST00000391745.1	-	5	360	c.44G>T	c.(43-45)gGa>gTa	p.G15V	LILRA3_ENST00000251390.3_5'UTR					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CATGGCGTCTCCTCCCACTGC	0.587000													5	54					0.00198382	0.00201118	1	1	0
NAT10	55226	broad.mit.edu	37	11	34129822	34129822	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr11:34129822G>C	ENST00000257829.3	+	2	256	c.50G>C	c.(49-51)gGa>gCa	p.G17A	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Missense_Mutation_p.G17A	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	17						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ATTGAGAATGGAGTAGCTGAG	0.408000													24	120					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248757005	248757005	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:248757005G>A	ENST00000330500.2	-	1	95	c.65C>T	c.(64-66)tCa>tTa	p.S22L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAGGGTGTGAGATCTGGCT	0.488000													5	37					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843332	24843332	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:24843332C>T	ENST00000259698.4	-	14	1853	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	FAM65B_ENST00000510784.2_Missense_Mutation_p.E544K|FAM65B_ENST00000473070.1_5'UTR|FAM65B_ENST00000540914.1_Missense_Mutation_p.E510K|FAM65B_ENST00000378023.4_Missense_Mutation_p.E510K|FAM65B_ENST00000538035.1_Missense_Mutation_p.E539K	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	560					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ATGTTTCCTTCCGAAGTGTCC	0.537000													84	92					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98654749	98654749	+	Silent	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:98654749G>A	ENST00000261574.5	+	14	1371	c.1191G>A	c.(1189-1191)ttG>ttA	p.L397L	IPO5_ENST00000490680.1_Silent_p.L379L|IPO5_ENST00000539640.1_Silent_p.L254L	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	379					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGCAGGATTGATGGCCTTAT	0.398000													12	87					0	0	1	0	0
HIST4H4	121504	broad.mit.edu	37	12	14924008	14924008	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr12:14924008C>T	ENST00000539745.1	-	1	57	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	4					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						ACCTTTACCTCGCCCAGACAT	0.582000													5	56					0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71509114	71509114	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr16:71509114G>A	ENST00000288177.5	-	6	1591	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	ZNF19_ENST00000565100.2_Missense_Mutation_p.R376C|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R446C|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.R404C	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	446						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		aggccaaaacgacaaatgtcc	0.458000													3	17					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36424894	36424894	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr13:36424894G>A	ENST00000379892.4	-	7	1266	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	DCLK1_ENST00000379893.1_Intron|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000255448.4_Intron|DCLK1_ENST00000360631.3_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	352					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTCATCCGAAGAGAGGGGGCG	0.468000													11	70					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33794504	33794504	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:33794504C>G	ENST00000257118.5	-	13	2442	c.2389G>C	c.(2389-2391)Gaa>Caa	p.E797Q	PHC2_ENST00000373422.3_Missense_Mutation_p.E403Q|PHC2_ENST00000373416.1_Missense_Mutation_p.E262Q|PHC2_ENST00000419414.2_Missense_Mutation_p.E798Q|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.E262Q|PHC2_ENST00000431992.1_Missense_Mutation_p.E768Q	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	797	SAM.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TAGACGTCTTCTACATTCCAC	0.557000													13	33					0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116771941	116771941	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:116771941A>G	ENST00000265437.5	+	6	782	c.568A>G	c.(568-570)Atg>Gtg	p.M190V	ST7_ENST00000323984.3_Missense_Mutation_p.M190V|ST7_ENST00000393443.1_Missense_Mutation_p.M140V|ST7_ENST00000393449.1_Missense_Mutation_p.M190V|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000465133.1_Missense_Mutation_p.M147V|ST7_ENST00000393447.4_Missense_Mutation_p.M147V|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393446.2_Missense_Mutation_p.M190V|ST7_ENST00000422922.1_Missense_Mutation_p.M144V|ST7_ENST00000432298.1_Missense_Mutation_p.M144V|ST7_ENST00000393451.3_Missense_Mutation_p.M190V|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000393444.3_Missense_Mutation_p.M147V	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	190						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTAAATAGTAATGCAGAAAGC	0.388000													12	45					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325168	43325168	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:43325168C>T	ENST00000361428.2	-	3	961	c.884G>A	c.(883-885)gGa>gAa	p.G295E	ZNF318_ENST00000318149.3_Missense_Mutation_p.G295E	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	295					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTGCGAGTTCCTGATGTAAA	0.498000													15	59					0	0	1	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													3	4	---	---	---	---					
CDKN1A	1026	broad.mit.edu	37	6	36651987	36651988	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr6:36651987_36651988insT	ENST00000405375.1	+	2	344_345	c.109_110insT	c.(109-111)ctafs	p.L37fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.L71fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	37					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CTGTGATGCGCTAATGGCGGGC	0.663													39	20	---	---	---	---					
OR6V1	346517	broad.mit.edu	37	7	142750276	142750276	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr7:142750276delC	ENST00000418316.1	+	1	860	c.839delC	c.(838-840)accfs	p.T280fs		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCAGTTCTCACCCCCTTTCTC	0.493													16	50	---	---	---	---					
MSRA	4482	broad.mit.edu	37	8	10159133	10159133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr8:10159133delC	ENST00000528246.1	+	5	846	c.223delC	c.(223-225)cacfs	p.H75fs	MSRA_ENST00000518255.1_Frame_Shift_Del_p.H141fs|MSRA_ENST00000441698.2_Frame_Shift_Del_p.H101fs|MSRA_ENST00000382490.5_Frame_Shift_Del_p.H98fs|MSRA_ENST00000317173.4_Frame_Shift_Del_p.H141fs	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	141					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CTGGGAGAATCACGACCCGAC	0.438													13	37	---	---	---	---					
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													6	3	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													3	2	---	---	---	---					
SPAG9	9043	broad.mit.edu	37	17	49077041	49077041	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr17:49077041delT	ENST00000262013.7	-	14	1853	c.1645delA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ATGCTTGACCTTTTTTTTTCC	0.323													7	88	---	---	---	---					
LILRB4	11006	broad.mit.edu	37	19	55179244	55179244	+	Splice_Site	DEL	G	G	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr19:55179244delG	ENST00000391736.1	+	13	1515	c.1200delG	c.(1198-1200)gag>ga	p.E400fs	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Splice_Site_p.E399fs|LILRB4_ENST00000391733.3_Splice_Site_p.E401fs|LILRB4_ENST00000270452.2_Splice_Site_p.E400fs	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	400						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGGACACTGAGGTGAGTCCTT	0.617													6	7	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													4	3	---	---	---	---					
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679		TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698													9	12	---	---	---	---					
GGT2	728441	broad.mit.edu	37	22	21576417	21576417	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-AATO-01A-11D-A391-08	TCGA-GU-AATO-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78889dc6-c768-44a3-8498-3c869da53083	9fd9ff7c-fd01-4044-a784-2b38b1d1907a	g.chr22:21576417delC	ENST00000401924.1	-	5	742	c.251delG	c.(250-252)ggcfs	p.G84fs	GGT2_ENST00000424627.1_Frame_Shift_Del_p.G84fs|GGT2_ENST00000405188.4_Frame_Shift_Del_p.G84fs					gamma-glutamyltransferase 2																		AACCCCGATGCCCATGCTGTG	0.622													2	4	---	---	---	---