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
CECR1	51816	broad.mit.edu	37	22	17669265	17669265	+	Missense_Mutation	SNP	C	C	T	rs74317375	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr22:17669265C>T	ENST00000399839.1	-	7	1315	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	CECR1_ENST00000399837.2_Missense_Mutation_p.V349I|CECR1_ENST00000262607.3_Missense_Mutation_p.V349I|CECR1_ENST00000330232.4_Missense_Mutation_p.V108I|CECR1_ENST00000449907.2_Missense_Mutation_p.V307I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	349					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCAGCTTAACGCCATCCTTG	0.607000													3	51					0	0	0.009096	0	0
PDXDC1	23042	broad.mit.edu	37	16	15128328	15128328	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:15128328G>A	ENST00000396410.4	+	21	2017	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	PDXDC1_ENST00000569715.1_Silent_p.Q613Q|PDXDC1_ENST00000325823.7_Silent_p.Q625Q|PDXDC1_ENST00000450288.2_Silent_p.Q612Q|PDXDC1_ENST00000563679.1_Silent_p.Q658Q|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000447912.2_Silent_p.Q549Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	640					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGTTGCGGCAGATCCCTGTAG	0.602000													30	105					0	0	0.059317	0	0
KRT79	338785	broad.mit.edu	37	12	53217762	53217762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:53217762C>T	ENST00000330553.5	-	6	1089	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	352	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTTGTCCCCATGCTTCCC	0.612000													10	33					0	0	0.058154	0	0
TENM2	57451	broad.mit.edu	37	5	167673804	167673804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:167673804G>A	ENST00000519204.1	+	26	5615	c.5497G>A	c.(5497-5499)Gag>Aag	p.E1833K	TENM2_ENST00000403607.2_Missense_Mutation_p.E1778K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1715K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1954K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1953K					teneurin transmembrane protein 2									p.E1833Q(1)|p.E1787Q(1)|p.E1954Q(1)									GTATATATTTGAGTATGACTC	0.512000													68	223					0	0	0.048971	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834874	27834874	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:27834874G>T	ENST00000331442.3	-	1	485	c.434C>A	c.(433-435)gCt>gAt	p.A145D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	145					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCCCTGCAGCCTTCTTGGC	0.617000													41	192					9.84934e-19	1.14379e-18	0.039052	1	0
UBE4B	10277	broad.mit.edu	37	1	10239993	10239993	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:10239993G>A	ENST00000377157.3	+	27	4226	c.3165G>A	c.(3163-3165)gaG>gaA	p.E1055E	UBE4B_ENST00000253251.8_Silent_p.E1167E|UBE4B_ENST00000343090.6_Silent_p.E1296E	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1296					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGATGAGAGAGAAACAGAACA	0.552000													8	40					0	0	0.047766	0	0
CASP8	841	broad.mit.edu	37	2	202131394	202131394	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:202131394T>C	ENST00000358485.4	+	2	558	c.362T>C	c.(361-363)cTg>cCg	p.L121P	CASP8_ENST00000264274.9_Missense_Mutation_p.L62P|CASP8_ENST00000323492.7_Missense_Mutation_p.L62P|CASP8_ENST00000264275.5_Missense_Mutation_p.L62P|CASP8_ENST00000392258.3_Missense_Mutation_p.L62P|CASP8_ENST00000432109.2_Missense_Mutation_p.L62P|CASP8_ENST00000392259.2_Missense_Mutation_p.L62P|CASP8_ENST00000392266.3_Missense_Mutation_p.L62P	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	62	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.L62P(1)|p.L121P(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGTCCTTCCTGAAGGAGCTG	0.453000										HNSCC(4;0.00038)			6	23					0	0	0.029380	0	0
SIRT3	23410	broad.mit.edu	37	11	219014	219014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr11:219014C>T	ENST00000382743.4	-	6	1099	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	SIRT3_ENST00000525319.1_Missense_Mutation_p.A252T|SIRT3_ENST00000524564.1_Missense_Mutation_p.A269T|SIRT3_ENST00000529382.1_Missense_Mutation_p.A191T|SIRT3_ENST00000532956.1_Missense_Mutation_p.A279T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	333	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTCCGCACGGCCTCGGTCAAG	0.612000													8	13					0	0	0.047766	0	0
OR6C4	341418	broad.mit.edu	37	12	55945682	55945682	+	Silent	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:55945682G>T	ENST00000394256.2	+	1	700	c.672G>T	c.(670-672)ctG>ctT	p.L224L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GGACTATTCTGAGGATCCCTT	0.468000													13	64					4.36969e-10	4.9159e-10	0.105934	1	0
AFF4	27125	broad.mit.edu	37	5	132269973	132269973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:132269973C>T	ENST00000265343.5	-	3	1163	c.784G>A	c.(784-786)Gga>Aga	p.G262R	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.G262R	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	262	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTCCTGTCCGTCCATGGGC	0.512000													15	61					0	0	0.028581	0	0
AGBL1	123624	broad.mit.edu	37	15	87531246	87531246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:87531246C>G	ENST00000441037.2	+	23	3207	c.3112C>G	c.(3112-3114)Cat>Gat	p.H1038D	AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038D|AGBL1_ENST00000389298.3_Missense_Mutation_p.H769D|RP11-133L19.1_ENST00000558587.1_RNA	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1038					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						cctgccaaagcatatttggtt	0.348000													43	104					0	0	0.045515	0	0
LRP1B	53353	broad.mit.edu	37	2	141806672	141806672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:141806672G>T	ENST00000389484.3	-	11	2643	c.1672C>A	c.(1672-1674)Cct>Act	p.P558T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	558					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)		AAAGCACGAGGGTTTACCAGA	0.438000										TSP Lung(27;0.18)			31	116					1.61788e-16	1.83927e-16	0.050027	1	0
PTPDC1	138639	broad.mit.edu	37	9	96859910	96859910	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:96859910G>A	ENST00000375360.3	+	7	1240	c.900G>A	c.(898-900)gcG>gcA	p.A300A	PTPDC1_ENST00000288976.3_Silent_p.A352A	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	300							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGGACTTAGCGGAGAACAGGC	0.468000													3	55					0	0	0.009096	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713944	142713944	+	RNA	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:142713944C>T	ENST00000369381.2	-	0	661																											TGATTACCTCCGAAGTTAAAG	0.308000													7	19					0	0	0.038147	0	0
OAS2	4939	broad.mit.edu	37	12	113444282	113444282	+	Silent	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:113444282A>G	ENST00000392583.2	+	8	1740	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	OAS2_ENST00000342315.4_Silent_p.K511K|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	511	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCTGTATAAATCCTCGGACC	0.512000													26	69					0	0	0.099896	0	0
RAI1	10743	broad.mit.edu	37	17	17696924	17696924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:17696924C>T	ENST00000353383.1	+	3	1131	c.662C>T	c.(661-663)aCc>aTc	p.T221I	RAI1_ENST00000261641.6_Missense_Mutation_p.T221I	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	221	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCTCCTCCACCTACTCCTCC	0.627000													36	68					0	0	0.064281	0	0
LAMA3	3909	broad.mit.edu	37	18	21444832	21444832	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:21444832G>A	ENST00000313654.9	+	36	4909	c.4668G>A	c.(4666-4668)ccG>ccA	p.P1556P	LAMA3_ENST00000399516.3_Silent_p.P1556P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1556	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAAGAAGCCGGATGTACAGC	0.448000													3	51					0	0	0.004672	0	0
RASA1	5921	broad.mit.edu	37	5	86681171	86681171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:86681171C>T	ENST00000456692.2	+	22	2396	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q938*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q772*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q771*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	938	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TAAATCTGTGCAGAACTTAGC	0.353000													4	24					0	0	0.014758	0	0
GPBP1	65056	broad.mit.edu	37	5	56546884	56546884	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:56546884C>T	ENST00000424459.3	+	11	2410	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	GPBP1_ENST00000506184.2_Missense_Mutation_p.A359V|GPBP1_ENST00000454432.2_Missense_Mutation_p.A379V|GPBP1_ENST00000538707.1_Missense_Mutation_p.A366V|GPBP1_ENST00000264779.6_Missense_Mutation_p.A366V|GPBP1_ENST00000514387.2_Missense_Mutation_p.A188V|GPBP1_ENST00000511209.1_Missense_Mutation_p.A351V	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AATGGCAATGCCTCAGTGATT	0.393000													19	37					0	0	0.043863	0	0
VWA3B	200403	broad.mit.edu	37	2	98914449	98914449	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:98914449C>T	ENST00000477737.1	+	24	3441	c.3237C>T	c.(3235-3237)tcC>tcT	p.S1079S	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1079										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCACCTCCTTCATCACGC	0.577000													9	59					0	0	0.047766	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	40					0	0	0.004672	0	0
NFATC2	4773	broad.mit.edu	37	20	50140118	50140118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr20:50140118G>A	ENST00000371564.3	-	2	881	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NFATC2_ENST00000414705.1_Missense_Mutation_p.S201L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S221L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	221	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTTCGAGGTGACATTATTGG	0.652000													20	71					0	0	0.055883	0	0
NT5C1B	93034	broad.mit.edu	37	2	18757571	18757571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:18757571C>T	ENST00000304081.4	-	8	1308	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	NT5C1B_ENST00000359846.2_Missense_Mutation_p.R463H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R463H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R463H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAGGCTACACGGAGCTGAGT	0.443000													11	31					0	0	0.080935	0	0
PAF1	54623	broad.mit.edu	37	19	39879970	39879970	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:39879970G>A	ENST00000221265.3	-	6	743	c.413C>T	c.(412-414)tCc>tTc	p.S138F	PAF1_ENST00000221266.7_Missense_Mutation_p.S128F|PAF1_ENST00000595564.1_Missense_Mutation_p.S128F	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	138					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAACTCAGTGGAGATGTACTC	0.517000													11	53					0	0	0.080935	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240713	26240713	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:26240713C>T	ENST00000377745.2	+	1	153	c.60C>T	c.(58-60)cgC>cgT	p.R20R		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGCGCCATCGCAAAGTGCTGC	0.537000													5	18					0	0	0.014758	0	0
LFNG	3955	broad.mit.edu	37	7	2552941	2552941	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:2552941C>T	ENST00000402506.1	+	2	324	c.198C>T	c.(196-198)taC>taT	p.Y66Y		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		TCAGGTCCTACGGAGGTGGCC	0.532000													8	27					0	0	0.047766	0	0
GPR98	84059	broad.mit.edu	37	5	89970029	89970029	+	Silent	SNP	C	C	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:89970029C>A	ENST00000405460.2	+	23	5184	c.5088C>A	c.(5086-5088)atC>atA	p.I1696I	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1696					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATCACCATCAAAGCTAGTG	0.423000													6	12					0.0293803	0.0308066	0.029380	1	0
GALNT2	2590	broad.mit.edu	37	1	230381875	230381875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:230381875G>A	ENST00000366672.4	+	8	868	c.796G>A	c.(796-798)Gca>Aca	p.A266T	GALNT2_ENST00000541865.1_Missense_Mutation_p.A176T|GALNT2_ENST00000543760.1_Missense_Mutation_p.A228T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	266					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A266P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTATGTGGGGGCATCTGCTGA	0.493000													9	45					0	0	0.047766	0	0
KPNA6	23633	broad.mit.edu	37	1	32628883	32628883	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:32628883A>G	ENST00000373625.3	+	10	1052	c.959A>G	c.(958-960)aAc>aGc	p.N320S	KPNA6_ENST00000537234.1_Missense_Mutation_p.N317S|KPNA6_ENST00000545542.1_Missense_Mutation_p.N325S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	320	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCGTGGGTAACATCGTCACT	0.542000													6	18					0	0	0.029380	0	0
DOCK8	81704	broad.mit.edu	37	9	382632	382632	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:382632G>A	ENST00000432829.2	+	22	2837	c.2521G>A	c.(2521-2523)Gcg>Acg	p.A841T	DOCK8_ENST00000453981.1_Missense_Mutation_p.A909T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841T|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCCAGACCTCGCGGGGACACA	0.542000													7	30					0	0	0.029380	0	0
TAOK2	9344	broad.mit.edu	37	16	29994159	29994159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:29994159G>A	ENST00000308893.4	+	11	1979	c.936G>A	c.(934-936)atG>atA	p.M312I	TAOK2_ENST00000543033.1_Missense_Mutation_p.M312I|TAOK2_ENST00000416441.2_Missense_Mutation_p.M139I|TAOK2_ENST00000279394.3_Missense_Mutation_p.M312I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	312					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACCGCAAGATGAAGAAGATCC	0.607000													20	61					0	0	0.069288	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023742	18023742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:18023742G>T	ENST00000361221.3	+	29	3866	c.3707G>T	c.(3706-3708)tGc>tTc	p.C1236F	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.C1009F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.C939F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.C1197F	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1236					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGAGATTTGCTCTGTGGCC	0.687000													13	31					7.03913e-09	7.83738e-09	0.093190	1	0
NHS	4810	broad.mit.edu	37	X	17744146	17744146	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:17744146G>A	ENST00000380060.3	+	6	2195	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	NHS_ENST00000398097.3_Silent_p.T463T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	619						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCAGCTCCACGTGCCCCTCGC	0.582000													26	100					0	0	0.099896	0	0
ERC2	26059	broad.mit.edu	37	3	56044571	56044571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr3:56044571C>T	ENST00000288221.6	-	9	2081	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	609						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TAGTCTTTCCCGATCATCTCT	0.413000													13	49					0	0	0.093190	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141591	133141591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:133141591G>A	ENST00000388996.4	-	15	2957	c.2537C>T	c.(2536-2538)aCg>aTg	p.T846M	KCNQ3_ENST00000521134.1_Missense_Mutation_p.T726M|KCNQ3_ENST00000519445.1_Missense_Mutation_p.T834M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	846					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCGCTGGGCGTGAAGGGGTC	0.572000													8	34					0	0	0.038147	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343801	43343801	+	RNA	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:43343801C>T	ENST00000344686.2	-	0	2684				MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCTCCCTCCCACTGTGCCA	0.577000													11	28					0	0	0.069234	0	0
PSMB7	5695	broad.mit.edu	37	9	127177670	127177670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:127177670C>T	ENST00000536392.1	-	1	51	c.35G>A	c.(34-36)gGa>gAa	p.G12E	PSMB7_ENST00000259457.3_Missense_Mutation_p.G12E			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						AGAGAAGCCTCCAACTGGTGG	0.607000											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	0.058154	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100657103	100657103	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:100657103C>T	ENST00000268070.4	-	13	1942	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	613	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCAGCCGGTCGTGTGCCTGG	0.627000													22	38					0	0	0.069288	0	0
SAMD15	161394	broad.mit.edu	37	14	77844099	77844099	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr14:77844099G>A	ENST00000216471.4	+	1	624	c.338G>A	c.(337-339)aGa>aAa	p.R113K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	113										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAACATCCAGAGAGATGGGA	0.493000													19	125					0	0	0.049695	0	0
LRBA	987	broad.mit.edu	37	4	151842388	151842388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:151842388G>A	ENST00000535741.1	-	5	1080	c.607C>T	c.(607-609)Cct>Tct	p.P203S	LRBA_ENST00000357115.3_Missense_Mutation_p.P203S|LRBA_ENST00000507224.1_Missense_Mutation_p.P203S|LRBA_ENST00000510413.1_Missense_Mutation_p.P203S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	203						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGGCATCAGGACCATACTTC	0.383000													25	52					0	0	0.030593	0	0
HPS6	79803	broad.mit.edu	37	10	103826339	103826339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:103826339G>A	ENST00000299238.5	+	1	1193	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	370						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAAGAGCTGGAGACCCGAGG	0.582000									Hermansky-Pudlak syndrome				12	47					0	0	0.093190	0	0
DSEL	92126	broad.mit.edu	37	18	65179933	65179933	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:65179933T>A	ENST00000310045.7	-	2	3416	c.1943A>T	c.(1942-1944)gAt>gTt	p.D648V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	638						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCATGATGATCAAACCAAAA	0.348000													12	44					0	0	0.093190	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526821	78526821	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr15:78526821C>T	ENST00000258873.4	-	1	228	c.23G>A	c.(22-24)gGa>gAa	p.G8E	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	8					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCAGCCGTATCCAGCTCCAGA	0.597000													38	195					0	0	0.074837	0	0
HR	55806	broad.mit.edu	37	8	21976769	21976769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:21976769C>T	ENST00000381418.4	-	15	4485	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E	HR_ENST00000312841.8_Missense_Mutation_p.G1002E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1002	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTCTTGGTCCCCAGGTGTCC	0.597000													6	34					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:7579374C>A	ENST00000420246.2	-	4	445	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000269305.4_Missense_Mutation_p.G105C|TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (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.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		CCGTAGCTGCCCTGGTAGGTT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	38					3.99451e-17	4.58943e-17	0.041601	1	0
THAP11	57215	broad.mit.edu	37	16	67876720	67876720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:67876720G>C	ENST00000303596.1	+	1	508	c.263G>C	c.(262-264)cGc>cCc	p.R88P	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTCAATGAGCGCAAAGTAGCG	0.682000													7	17					0	0	0.038147	0	0
TCTE1	202500	broad.mit.edu	37	6	44254022	44254022	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr6:44254022C>T	ENST00000371505.4	-	3	647	c.525G>A	c.(523-525)gcG>gcA	p.A175A	TCTE1_ENST00000371504.1_Silent_p.A22A|TCTE1_ENST00000371503.3_Silent_p.A22A|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	175										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGAGGATCACCGCAGGGTCTG	0.652000													20	41					0	0	0.043863	0	0
ZNF189	7743	broad.mit.edu	37	9	104170879	104170879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:104170879G>A	ENST00000374861.3	+	3	1071	c.787G>A	c.(787-789)Gag>Aag	p.E263K	ZNF189_ENST00000339664.2_Missense_Mutation_p.E277K|ZNF189_ENST00000259395.4_Missense_Mutation_p.E235K	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	277					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACCTTATTGAGCATCAAAG	0.393000													55	106					0	0	0.048971	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	17					0	0	0.093190	0	0
AFF2	2334	broad.mit.edu	37	X	148055022	148055022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:148055022G>A	ENST00000370460.2	+	16	3768	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	AFF2_ENST00000342251.3_Missense_Mutation_p.V1064M|AFF2_ENST00000370457.5_Missense_Mutation_p.V1062M|AFF2_ENST00000286437.5_Missense_Mutation_p.V738M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1097					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAAAGCTGTGAATTATGC	0.463000													25	85					0	0	0.099896	0	0
SORCS3	22986	broad.mit.edu	37	10	106899230	106899230	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:106899230T>C	ENST00000369701.3	+	8	1515	c.1288T>C	c.(1288-1290)Tac>Cac	p.Y430H		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	430						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCTGCCTAAGTACTCGTTGCC	0.512000													14	53					0	0	0.028581	0	0
CYB5R1	51706	broad.mit.edu	37	1	202935050	202935050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:202935050C>T	ENST00000367249.4	-	4	384	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	104	FAD-binding FR-type.				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGATCCTCATCACTGGTGACA	0.507000													6	26					0	0	0.021553	0	0
TNKS	8658	broad.mit.edu	37	8	9605599	9605599	+	Silent	SNP	G	G	A	rs35491087	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:9605599G>A	ENST00000310430.6	+	18	2735	c.2709G>A	c.(2707-2709)gcG>gcA	p.A903A	TNKS_ENST00000518281.1_Silent_p.A666A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	903					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATAAGTGGGCGTTTACTCCCC	0.473000													8	31					0	0	0.038147	0	0
TOR4A	54863	broad.mit.edu	37	9	140174120	140174120	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:140174120C>T	ENST00000357503.2	+	2	1175	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C		NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN	torsin family 4, member A	327					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity										CGACGGCTTCCGCAGTGCCGA	0.741000													7	2					0	0	0.029380	0	0
HBG2	3048	broad.mit.edu	37	11	5274626	5274626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr11:5274626T>A	ENST00000380259.2	-	8	1565	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	HBG2_ENST00000380252.1_Missense_Mutation_p.N99Y|HBG2_ENST00000336906.4_Missense_Mutation_p.N109Y					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGCACATTTCCCAGGAGC	0.522000													7	27					0	0	0.069234	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077219	34077219	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:34077219G>A	ENST00000254466.6	-	2	531	c.504C>T	c.(502-504)ctC>ctT	p.L168L	GAS2L2_ENST00000587565.1_Silent_p.L168L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	168					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGCTGCACGAGTGTGGGCG	0.721000													31	132					0	0	0.050027	0	0
NLRP7	199713	broad.mit.edu	37	19	55450492	55450492	+	Silent	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:55450492C>G	ENST00000446217.1	-	6	2181	c.1779G>C	c.(1777-1779)gtG>gtC	p.V593V	NLRP7_ENST00000592784.1_Silent_p.V565V|NLRP7_ENST00000328092.5_Silent_p.V565V|NLRP7_ENST00000448121.2_Silent_p.V565V|NLRP7_ENST00000590030.1_Silent_p.V565V|NLRP7_ENST00000588756.1_Silent_p.V565V|NLRP7_ENST00000340844.2_Silent_p.V565V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	565							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGGTCGGTCACGGATAAGG	0.527000													21	39					0	0	0.049695	0	0
ACSM4	341392	broad.mit.edu	37	12	7469847	7469847	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:7469847C>T	ENST00000399422.4	+	4	783	c.735C>T	c.(733-735)agC>agT	p.S245S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	245					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CTCAGAGCAGCCTCGGCATTG	0.488000													4	4					0	0	0.009096	0	0
GRM8	2918	broad.mit.edu	37	7	126746580	126746580	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:126746580C>T	ENST00000339582.2	-	3	1505	c.697G>A	c.(697-699)Gag>Aag	p.E233K	GRM8_ENST00000358373.3_Missense_Mutation_p.E233K|GRM8_ENST00000444921.2_Missense_Mutation_p.E233K|GRM8_ENST00000405249.1_Missense_Mutation_p.E233K|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	233					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTGAAGGCCTCCACACCGCTC	0.498000										HNSCC(24;0.065)			7	20					0	0	0.029380	0	0
FAT1	2195	broad.mit.edu	37	4	187549812	187549812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:187549812G>A	ENST00000441802.2	-	8	4638	c.4429C>T	c.(4429-4431)Caa>Taa	p.Q1477*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1477	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACTGATTTGCAAAATTTCT	0.393000										HNSCC(5;0.00058)			9	27					0	0	0.069234	0	0
CELF2	10659	broad.mit.edu	37	10	11370983	11370983	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:11370983G>A	ENST00000379261.4	+	13	1586	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	CELF2_ENST00000416382.2_Silent_p.L498L|CELF2_ENST00000399850.3_Silent_p.L480L|CELF2_ENST00000417956.2_Silent_p.L478L|CELF2_ENST00000450189.1_Silent_p.L511L|CELF2_ENST00000542579.1_Silent_p.L511L|CELF2_ENST00000354440.2_Silent_p.L480L|CELF2_ENST00000427450.1_Silent_p.L480L|CELF2_ENST00000537122.1_Silent_p.L393L|CELF2_ENST00000354897.3_Silent_p.L492L|CELF2_ENST00000315874.3_Silent_p.L480L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	498	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AGGTGCAGCTGAAGCGTTCCA	0.488000													12	59					0	0	0.105934	0	0
ADAM28	10863	broad.mit.edu	37	8	24209561	24209561	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:24209561C>G	ENST00000265769.4	+	21	2350	c.2240C>G	c.(2239-2241)tCt>tGt	p.S747C	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	747					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCCCAGCCTCTTTTGTGAGT	0.408000													9	58					0	0	0.058154	0	0
KANK2	25959	broad.mit.edu	37	19	11280802	11280802	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:11280802G>A	ENST00000432929.2	-	11	2718	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	KANK2_ENST00000589359.1_Silent_p.C786C|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000586659.1_Silent_p.C778C|KANK2_ENST00000589894.1_Silent_p.C778C|KANK2_ENST00000355150.5_Silent_p.C778C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	778										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTCACAGGCGCACATGAGGG	0.637000													15	44					0	0	0.024245	0	0
MAEL	84944	broad.mit.edu	37	1	166985521	166985521	+	Splice_Site	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:166985521C>T	ENST00000367872.4	+	9	1152	c.908_splice	c.e9+1	p.A303_splice	MAEL_ENST00000367870.2_Splice_Site_p.A272_splice|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	303					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.A303V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAGAAGATTGCGTAAGTTGGG	0.368000													11	52					0	0	0.080935	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31965096	31965096	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr21:31965096G>A	ENST00000391624.1	+	1	338	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						TACTACTATTGAGGACACCAT	0.512000													3	11					0	0	0.004672	0	0
TRIO	7204	broad.mit.edu	37	5	14488246	14488246	+	Silent	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:14488246G>C	ENST00000344204.4	+	48	7533	c.7509G>C	c.(7507-7509)ccG>ccC	p.P2503P	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2503					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|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCACCTTCCCGGGGGACAGCG	0.721000													4	15					0	0	0.014758	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4665701	4665701	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:4665701T>C	ENST00000543041.1	+	7	858	c.550T>C	c.(550-552)Tgg>Cgg	p.W184R	RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000228843.9_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Intron			Q96B01	R51A1_HUMAN	RAD51 associated protein 1	307					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GACAGGAGCTTGGAAAATTAT	0.378000													5	25					0	0	0.014758	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561896	11561896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:11561896G>A	ENST00000294484.6	+	2	985	c.847G>A	c.(847-849)Ggc>Agc	p.G283S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G283S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	283					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGCGCGCGGCGACGCGGA	0.647000													5	20					0	0	0.029380	0	0
CLEC9A	283420	broad.mit.edu	37	12	10213747	10213747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:10213747C>T	ENST00000355819.1	+	6	807	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	65					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCCACCATTGCGATGCAGCAG	0.403000													5	16					0	0	0.014758	0	0
RASAL2	9462	broad.mit.edu	37	1	178411963	178411963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:178411963G>A	ENST00000448150.3	+	8	1845	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	RASAL2_ENST00000367649.3_Missense_Mutation_p.G361S|RASAL2_ENST00000462775.1_Missense_Mutation_p.G213S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	213	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TATTTTCTGGGGCGAACATTT	0.388000													16	84					0	0	0.043863	0	0
OR4C15	81309	broad.mit.edu	37	11	55322484	55322484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr11:55322484G>T	ENST00000314644.2	+	1	702	c.702G>T	c.(700-702)ttG>ttT	p.L234F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTGTGACTTGTACCCGTTAC	0.458000										HNSCC(20;0.049)			7	27					0.0293803	0.0308066	0.029380	1	0
RNF128	79589	broad.mit.edu	37	X	105937342	105937342	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:105937342A>G	ENST00000324342.3	+	1	275	c.110A>G	c.(109-111)tAc>tGc	p.Y37C		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	52						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGACTTATTACAATGAAACC	0.388000													24	90					0	0	0.076483	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475797	140475797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:140475797G>A	ENST00000194155.4	+	1	1571	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		475	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.667000													34	117					0	0	0.045515	0	0
CARM1	10498	broad.mit.edu	37	19	11018790	11018790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr19:11018790C>T	ENST00000327064.4	+	3	612	c.422C>T	c.(421-423)aCg>aTg	p.T141M	CARM1_ENST00000344150.4_Missense_Mutation_p.T141M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	141					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AGCGAGCGGACGGAGGAGTCT	0.637000													15	77					0	0	0.028581	0	0
SEC61A2	55176	broad.mit.edu	37	10	12191922	12191922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr10:12191922G>A	ENST00000379033.3	+	5	505	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SEC61A2_ENST00000298428.9_Missense_Mutation_p.E142K|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.E142K|SEC61A2_ENST00000379051.1_Missense_Mutation_p.E142K|SEC61A2_ENST00000304267.8_Missense_Mutation_p.E142K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.E142K	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	142						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGACCCTGCAGAAATGGGTGC	0.428000													15	60					0	0	0.033300	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43472974	43472974	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr17:43472974G>A	ENST00000532038.1	-	16	1987	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R818C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R499C|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R472C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R499C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R813C|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R840C			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	840					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACCGACATGCGGTTCTGCTCG	0.667000													3	9					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126371855	126371855	+	Silent	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr4:126371855G>C	ENST00000394329.3	+	9	9697	c.9684G>C	c.(9682-9684)gtG>gtC	p.V3228V	FAT4_ENST00000335110.5_Silent_p.V1526V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3228	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAATGCTGTGATTGCGTATA	0.428000													9	50					0	0	0.058154	0	0
TIPARP	25976	broad.mit.edu	37	3	156396202	156396202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr3:156396202G>A	ENST00000461166.1	+	2	1304	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TIPARP_ENST00000486483.1_Missense_Mutation_p.G239E|TIPARP_ENST00000295924.7_Missense_Mutation_p.G239E|TIPARP_ENST00000542783.1_Missense_Mutation_p.G239E	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	239							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAAGAGAACGGAATTGAAATT	0.458000													22	127					0	0	0.069288	0	0
FIGN	55137	broad.mit.edu	37	2	164467771	164467771	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr2:164467771C>T	ENST00000333129.3	-	3	885	c.571G>A	c.(571-573)Gga>Aga	p.G191R	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	191						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAATATGATCCGTTGTATCCT	0.507000													6	39					0	0	0.021553	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595724	140595724	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:140595724G>C	ENST00000341948.4	+	1	2216	c.2029G>C	c.(2029-2031)Gcc>Ccc	p.A677P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		677					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGAGGCGGCCCCGACCCA	0.682000													36	114					0	0	0.074837	0	0
RBM12B	389677	broad.mit.edu	37	8	94746535	94746535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:94746535G>A	ENST00000399300.2	-	3	2317	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	702							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCTGGGGGCCGCCTGAAG	0.642000													34	124					0	0	0.050027	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14782606	14782606	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr18:14782606A>C	ENST00000358984.4	+	12	1743	c.1563A>C	c.(1561-1563)gaA>gaC	p.E521D	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E521D|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	521										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAATAGAGAAGTAGAAGGTA	0.313000													6	13					0	0	0.021553	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892282	130892282	+	Missense_Mutation	SNP	C	C	T	rs142858015	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:130892282C>T	ENST00000261655.4	-	16	3077	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	972	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGACATCGACGTTGGGCGAG	0.567000													52	186					0	0	0.048971	0	0
CCDC107	203260	broad.mit.edu	37	9	35658653	35658653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr9:35658653G>A	ENST00000421582.2	+	2	250	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	CCDC107_ENST00000327351.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378409.3_Missense_Mutation_p.A63T|CCDC107_ENST00000426546.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378406.1_Missense_Mutation_p.A63T|CCDC107_ENST00000378407.3_Missense_Mutation_p.A63T			Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	63						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGGACCCGGGCCGGGTCGCT	0.716000													8	13					0	0	0.038147	0	0
LRP1	4035	broad.mit.edu	37	12	57579467	57579467	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:57579467G>T	ENST00000243077.3	+	41	7083	c.6617G>T	c.(6616-6618)cGc>cTc	p.R2206L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2206					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACTCAGAGCGCACCATTCTC	0.642000													6	22					0.0215528	0.0230465	0.021553	1	0
OPLAH	26873	broad.mit.edu	37	8	145107418	145107418	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr8:145107418G>A	ENST00000426825.1	-	23	3318	c.3237C>T	c.(3235-3237)aaC>aaT	p.N1079N	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1079							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGTGAGCACGTTGCCGCCCA	0.771000													3	7					0	0	0.004672	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													3	39					0	0	0.004672	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	46					0	0	0.009096	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524270	73524270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:73524270G>T	ENST00000339534.2	+	1	246	c.169G>T	c.(169-171)Gct>Tct	p.A57S		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	57							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CGGTCGTAATGCTAAGAACTG	0.527000													6	27					0.00116845	0.00126192	0.021553	1	0
DUSP27	92235	broad.mit.edu	37	1	167095880	167095880	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr1:167095880G>A	ENST00000361200.2	+	6	1678	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.A504A|DUSP27_ENST00000443333.1_Silent_p.A504A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	504					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGAGGAGGCGGCAGACAGGA	0.602000													11	29					0	0	0.080935	0	0
CECR1	51816	broad.mit.edu	37	22	17669265	17669265	+	Missense_Mutation	SNP	C	C	T	rs74317375	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr22:17669265C>T	ENST00000399839.1	-	7	1315	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	CECR1_ENST00000449907.2_Missense_Mutation_p.V307I|CECR1_ENST00000262607.3_Missense_Mutation_p.V349I|CECR1_ENST00000330232.4_Missense_Mutation_p.V108I|CECR1_ENST00000399837.2_Missense_Mutation_p.V349I			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	349					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGCAGCTTAACGCCATCCTTG	0.607000													3	51					0	0	0.009096	0	0
PDXDC1	23042	broad.mit.edu	37	16	15128328	15128328	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr16:15128328G>A	ENST00000396410.4	+	21	2017	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	PDXDC1_ENST00000563679.1_Silent_p.Q658Q|PDXDC1_ENST00000450288.2_Silent_p.Q612Q|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000569715.1_Silent_p.Q613Q|PDXDC1_ENST00000447912.2_Silent_p.Q549Q|PDXDC1_ENST00000325823.7_Silent_p.Q625Q	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	640					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGTTGCGGCAGATCCCTGTAG	0.602000													30	105					0	0	0.059317	0	0
KRT79	338785	broad.mit.edu	37	12	53217762	53217762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:53217762C>T	ENST00000330553.5	-	6	1089	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	352	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGTTGTCCCCATGCTTCCC	0.612000													10	33					0	0	0.058154	0	0
TENM2	57451	broad.mit.edu	37	5	167673804	167673804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:167673804G>A	ENST00000519204.1	+	26	5615	c.5497G>A	c.(5497-5499)Gag>Aag	p.E1833K	TENM2_ENST00000403607.2_Missense_Mutation_p.E1778K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1954K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1715K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1953K					teneurin transmembrane protein 2									p.E1833Q(1)|p.E1787Q(1)|p.E1954Q(1)									GTATATATTTGAGTATGACTC	0.512000													68	223					0	0	0.139131	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953672	16953672	+	RNA	SNP	C	C	T	rs3738597	by1000genomes	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:16953672C>T	ENST00000412962.1	-	0	589																											TCGGTCTTCTCGGCCTGCAGC	0.652000													8	55					0	0	0.038147	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834874	27834874	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr6:27834874G>T	ENST00000331442.3	-	1	485	c.434C>A	c.(433-435)gCt>gAt	p.A145D		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	145					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCCCTGCAGCCTTCTTGGC	0.617000													41	192					9.84934e-19	1.13121e-18	0.117977	1	0
UBE4B	10277	broad.mit.edu	37	1	10239993	10239993	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:10239993G>A	ENST00000377157.3	+	27	4226	c.3165G>A	c.(3163-3165)gaG>gaA	p.E1055E	UBE4B_ENST00000253251.8_Silent_p.E1167E|UBE4B_ENST00000343090.6_Silent_p.E1296E	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1296					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGATGAGAGAGAAACAGAACA	0.552000													8	40					0	0	0.047766	0	0
CASP8	841	broad.mit.edu	37	2	202131394	202131394	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr2:202131394T>C	ENST00000358485.4	+	2	558	c.362T>C	c.(361-363)cTg>cCg	p.L121P	CASP8_ENST00000432109.2_Missense_Mutation_p.L62P|CASP8_ENST00000264274.9_Missense_Mutation_p.L62P|CASP8_ENST00000264275.5_Missense_Mutation_p.L62P|CASP8_ENST00000392258.3_Missense_Mutation_p.L62P|CASP8_ENST00000323492.7_Missense_Mutation_p.L62P|CASP8_ENST00000392259.2_Missense_Mutation_p.L62P|CASP8_ENST00000392266.3_Missense_Mutation_p.L62P	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	62	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.L62P(1)|p.L121P(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGTCCTTCCTGAAGGAGCTG	0.453000										HNSCC(4;0.00038)			6	23					0	0	0.029380	0	0
SIRT3	23410	broad.mit.edu	37	11	219014	219014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr11:219014C>T	ENST00000382743.4	-	6	1099	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	SIRT3_ENST00000529382.1_Missense_Mutation_p.A191T|SIRT3_ENST00000525319.1_Missense_Mutation_p.A252T|SIRT3_ENST00000524564.1_Missense_Mutation_p.A269T|SIRT3_ENST00000532956.1_Missense_Mutation_p.A279T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	333	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTCCGCACGGCCTCGGTCAAG	0.612000													8	13					0	0	0.047766	0	0
OR6C4	341418	broad.mit.edu	37	12	55945682	55945682	+	Silent	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:55945682G>T	ENST00000394256.2	+	1	700	c.672G>T	c.(670-672)ctG>ctT	p.L224L	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						GGACTATTCTGAGGATCCCTT	0.468000													13	64					4.36969e-10	4.87389e-10	0.105934	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	35					0	0	0.029380	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	48					0	0	0.115264	0	0
AGBL1	123624	broad.mit.edu	37	15	87531246	87531246	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr15:87531246C>G	ENST00000441037.2	+	23	3207	c.3112C>G	c.(3112-3114)Cat>Gat	p.H1038D	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038D|AGBL1_ENST00000389298.3_Missense_Mutation_p.H769D	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1038					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						cctgccaaagcatatttggtt	0.348000													43	104					0	0	0.131918	0	0
LRP1B	53353	broad.mit.edu	37	2	141806672	141806672	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr2:141806672G>T	ENST00000389484.3	-	11	2643	c.1672C>A	c.(1672-1674)Cct>Act	p.P558T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	558					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)		AAAGCACGAGGGTTTACCAGA	0.438000										TSP Lung(27;0.18)			31	116					1.61788e-16	1.82208e-16	0.050027	1	0
PTPDC1	138639	broad.mit.edu	37	9	96859910	96859910	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr9:96859910G>A	ENST00000375360.3	+	7	1240	c.900G>A	c.(898-900)gcG>gcA	p.A300A	PTPDC1_ENST00000288976.3_Silent_p.A352A	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	300							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGGACTTAGCGGAGAACAGGC	0.468000													3	55					0	0	0.009096	0	0
OAS2	4939	broad.mit.edu	37	12	113444282	113444282	+	Silent	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:113444282A>G	ENST00000392583.2	+	8	1740	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	OAS2_ENST00000342315.4_Silent_p.K511K|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	511	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCTGTATAAATCCTCGGACC	0.512000													26	69					0	0	0.099896	0	0
RAI1	10743	broad.mit.edu	37	17	17696924	17696924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr17:17696924C>T	ENST00000353383.1	+	3	1131	c.662C>T	c.(661-663)aCc>aTc	p.T221I	RAI1_ENST00000261641.6_Missense_Mutation_p.T221I	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	221	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCTCCTCCACCTACTCCTCC	0.627000													36	68					0	0	0.064281	0	0
LAMA3	3909	broad.mit.edu	37	18	21444832	21444832	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr18:21444832G>A	ENST00000313654.9	+	36	4909	c.4668G>A	c.(4666-4668)ccG>ccA	p.P1556P	LAMA3_ENST00000399516.3_Silent_p.P1556P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1556	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAAAGAAGCCGGATGTACAGC	0.448000													3	51					0	0	0.115264	0	0
RASA1	5921	broad.mit.edu	37	5	86681171	86681171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:86681171C>T	ENST00000456692.2	+	22	2396	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q772*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q771*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q938*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	938	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TAAATCTGTGCAGAACTTAGC	0.353000													4	24					0	0	0.014758	0	0
GPBP1	65056	broad.mit.edu	37	5	56546884	56546884	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:56546884C>T	ENST00000424459.3	+	11	2410	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	GPBP1_ENST00000506184.2_Missense_Mutation_p.A359V|GPBP1_ENST00000511209.1_Missense_Mutation_p.A351V|GPBP1_ENST00000454432.2_Missense_Mutation_p.A379V|GPBP1_ENST00000514387.2_Missense_Mutation_p.A188V|GPBP1_ENST00000538707.1_Missense_Mutation_p.A366V|GPBP1_ENST00000264779.6_Missense_Mutation_p.A366V	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AATGGCAATGCCTCAGTGATT	0.393000													19	37					0	0	0.043863	0	0
VWA3B	200403	broad.mit.edu	37	2	98914449	98914449	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr2:98914449C>T	ENST00000477737.1	+	24	3441	c.3237C>T	c.(3235-3237)tcC>tcT	p.S1079S	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1079										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCACCTCCTTCATCACGC	0.577000													9	59					0	0	0.047766	0	0
KANK2	25959	broad.mit.edu	37	19	11280802	11280802	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr19:11280802G>A	ENST00000432929.2	-	11	2718	c.2358C>T	c.(2356-2358)tgC>tgT	p.C786C	KANK2_ENST00000589894.1_Silent_p.C778C|KANK2_ENST00000589359.1_Silent_p.C786C|KANK2_ENST00000355150.5_Silent_p.C778C|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000586659.1_Silent_p.C778C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	778										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTCACAGGCGCACATGAGGG	0.637000													15	44					0	0	0.132662	0	0
NT5C1B	93034	broad.mit.edu	37	2	18757571	18757571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr2:18757571C>T	ENST00000304081.4	-	8	1308	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	NT5C1B_ENST00000359846.2_Missense_Mutation_p.R463H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R463H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R463H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AAAGGCTACACGGAGCTGAGT	0.443000													11	31					0	0	0.080935	0	0
PAF1	54623	broad.mit.edu	37	19	39879970	39879970	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr19:39879970G>A	ENST00000221265.3	-	6	743	c.413C>T	c.(412-414)tCc>tTc	p.S138F	PAF1_ENST00000595564.1_Missense_Mutation_p.S128F|PAF1_ENST00000221266.7_Missense_Mutation_p.S128F	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	138					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAACTCAGTGGAGATGTACTC	0.517000													11	53					0	0	0.080935	0	0
EPB41L5	57669	broad.mit.edu	37	2	120857851	120857851	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr2:120857851G>T	ENST00000263713.5	+	15	1424	c.1210G>T	c.(1210-1212)Ggc>Tgc	p.G404C	EPB41L5_ENST00000331393.4_Missense_Mutation_p.G404C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.G404C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.G404C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.G404C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	404						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CCAAAGTAATGGCTCCCAACA	0.328000													3	39					0.115264	0.118324	0.115264	1	0
HIST1H4F	8361	broad.mit.edu	37	6	26240713	26240713	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr6:26240713C>T	ENST00000377745.2	+	1	153	c.60C>T	c.(58-60)cgC>cgT	p.R20R		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	20					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGCGCCATCGCAAAGTGCTGC	0.537000													5	18					0	0	0.014758	0	0
LFNG	3955	broad.mit.edu	37	7	2552941	2552941	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr7:2552941C>T	ENST00000402506.1	+	2	324	c.198C>T	c.(196-198)taC>taT	p.Y66Y		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		TCAGGTCCTACGGAGGTGGCC	0.532000													8	27					0	0	0.047766	0	0
GPR98	84059	broad.mit.edu	37	5	89970029	89970029	+	Silent	SNP	C	C	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:89970029C>A	ENST00000405460.2	+	23	5184	c.5088C>A	c.(5086-5088)atC>atA	p.I1696I	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1696					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATCACCATCAAAGCTAGTG	0.423000													6	12					0.0293803	0.0304296	0.029380	1	0
GALNT2	2590	broad.mit.edu	37	1	230381875	230381875	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:230381875G>A	ENST00000366672.4	+	8	868	c.796G>A	c.(796-798)Gca>Aca	p.A266T	GALNT2_ENST00000541865.1_Missense_Mutation_p.A176T|GALNT2_ENST00000543760.1_Missense_Mutation_p.A228T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	266					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A266P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTATGTGGGGGCATCTGCTGA	0.493000													9	45					0	0	0.047766	0	0
KPNA6	23633	broad.mit.edu	37	1	32628883	32628883	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:32628883A>G	ENST00000373625.3	+	10	1052	c.959A>G	c.(958-960)aAc>aGc	p.N320S	KPNA6_ENST00000545542.1_Missense_Mutation_p.N325S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N317S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	320	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCCGTGGGTAACATCGTCACT	0.542000													6	18					0	0	0.029380	0	0
DOCK8	81704	broad.mit.edu	37	9	382632	382632	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr9:382632G>A	ENST00000432829.2	+	22	2837	c.2521G>A	c.(2521-2523)Gcg>Acg	p.A841T	DOCK8_ENST00000382331.1_Missense_Mutation_p.A211T|DOCK8_ENST00000453981.1_Missense_Mutation_p.A909T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	909					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCCAGACCTCGCGGGGACACA	0.542000													7	30					0	0	0.029380	0	0
TAOK2	9344	broad.mit.edu	37	16	29994159	29994159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr16:29994159G>A	ENST00000308893.4	+	11	1979	c.936G>A	c.(934-936)atG>atA	p.M312I	TAOK2_ENST00000543033.1_Missense_Mutation_p.M312I|TAOK2_ENST00000279394.3_Missense_Mutation_p.M312I|TAOK2_ENST00000416441.2_Missense_Mutation_p.M139I	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	312					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACCGCAAGATGAAGAAGATCC	0.607000													20	61					0	0	0.069288	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023742	18023742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:18023742G>T	ENST00000361221.3	+	29	3866	c.3707G>T	c.(3706-3708)tGc>tTc	p.C1236F	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.C1009F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.C939F	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1236					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGGAGATTTGCTCTGTGGCC	0.687000													13	31					7.03913e-09	7.77656e-09	0.093190	1	0
LOC645752	645752	broad.mit.edu	37	15	78212571	78212571	+	RNA	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572000													6	39					0	0	0.038147	0	0
NHS	4810	broad.mit.edu	37	X	17744146	17744146	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chrX:17744146G>A	ENST00000380060.3	+	6	2195	c.1857G>A	c.(1855-1857)acG>acA	p.T619T	NHS_ENST00000398097.3_Silent_p.T463T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	619						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCAGCTCCACGTGCCCCTCGC	0.582000													26	100					0	0	0.099896	0	0
NLRP7	199713	broad.mit.edu	37	19	55450492	55450492	+	Silent	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr19:55450492C>G	ENST00000446217.1	-	6	2181	c.1779G>C	c.(1777-1779)gtG>gtC	p.V593V	NLRP7_ENST00000448121.2_Silent_p.V565V|NLRP7_ENST00000592784.1_Silent_p.V565V|NLRP7_ENST00000588756.1_Silent_p.V565V|NLRP7_ENST00000590030.1_Silent_p.V565V|NLRP7_ENST00000340844.2_Silent_p.V565V|NLRP7_ENST00000328092.5_Silent_p.V565V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	565							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGGTCGGTCACGGATAAGG	0.527000													21	39					0	0	0.049695	0	0
ERC2	26059	broad.mit.edu	37	3	56044571	56044571	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr3:56044571C>T	ENST00000288221.6	-	9	2081	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	609						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TAGTCTTTCCCGATCATCTCT	0.413000													13	49					0	0	0.093190	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141591	133141591	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr8:133141591G>A	ENST00000388996.4	-	15	2957	c.2537C>T	c.(2536-2538)aCg>aTg	p.T846M	KCNQ3_ENST00000519445.1_Missense_Mutation_p.T834M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.T726M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	846					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCGCTGGGCGTGAAGGGGTC	0.572000													8	34					0	0	0.038147	0	0
MAP3K14	9020	broad.mit.edu	37	17	43343801	43343801	+	RNA	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr17:43343801C>T	ENST00000344686.2	-	0	2684				MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTCCTCCCTCCCACTGTGCCA	0.577000													11	28					0	0	0.069234	0	0
PSMB7	5695	broad.mit.edu	37	9	127177670	127177670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr9:127177670C>T	ENST00000536392.1	-	1	51	c.35G>A	c.(34-36)gGa>gAa	p.G12E	PSMB7_ENST00000259457.3_Missense_Mutation_p.G12E			Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						AGAGAAGCCTCCAACTGGTGG	0.607000											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	13					0	0	0.058154	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													13	159					0	0	0.119110	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100657103	100657103	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr15:100657103C>T	ENST00000268070.4	-	13	1942	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	613	Cys-rich.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCAGCCGGTCGTGTGCCTGG	0.627000													22	38					0	0	0.069288	0	0
SAMD15	161394	broad.mit.edu	37	14	77844099	77844099	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr14:77844099G>A	ENST00000216471.4	+	1	624	c.338G>A	c.(337-339)aGa>aAa	p.R113K	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	113										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAAACATCCAGAGAGATGGGA	0.493000													19	125					0	0	0.049695	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713956	142713956	+	RNA	SNP	G	G	A	rs12161184	by1000genomes	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:142713956G>A	ENST00000369381.2	-	0	649																											AAGTTAAAGAGTAACCTGCAC	0.308000													4	17					0	0	0.014758	0	0
LRBA	987	broad.mit.edu	37	4	151842388	151842388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr4:151842388G>A	ENST00000535741.1	-	5	1080	c.607C>T	c.(607-609)Cct>Tct	p.P203S	LRBA_ENST00000510413.1_Missense_Mutation_p.P203S|LRBA_ENST00000507224.1_Missense_Mutation_p.P203S|LRBA_ENST00000357115.3_Missense_Mutation_p.P203S			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	203						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGGCATCAGGACCATACTTC	0.383000													25	52					0	0	0.116897	0	0
HPS6	79803	broad.mit.edu	37	10	103826339	103826339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr10:103826339G>A	ENST00000299238.5	+	1	1193	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	370						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGAAGAGCTGGAGACCCGAGG	0.582000									Hermansky-Pudlak syndrome				12	47					0	0	0.093190	0	0
NFATC2	4773	broad.mit.edu	37	20	50140118	50140118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr20:50140118G>A	ENST00000371564.3	-	2	881	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NFATC2_ENST00000414705.1_Missense_Mutation_p.S201L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S221L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	221	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTTCGAGGTGACATTATTGG	0.652000													20	71					0	0	0.055883	0	0
DSEL	92126	broad.mit.edu	37	18	65179933	65179933	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr18:65179933T>A	ENST00000310045.7	-	2	3416	c.1943A>T	c.(1942-1944)gAt>gTt	p.D648V	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	638						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCATGATGATCAAACCAAAA	0.348000													12	44					0	0	0.093190	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526821	78526821	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr15:78526821C>T	ENST00000258873.4	-	1	228	c.23G>A	c.(22-24)gGa>gAa	p.G8E	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000558828.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	8					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCAGCCGTATCCAGCTCCAGA	0.597000													38	195					0	0	0.074837	0	0
HR	55806	broad.mit.edu	37	8	21976769	21976769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr8:21976769C>T	ENST00000381418.4	-	15	4485	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E	HR_ENST00000312841.8_Missense_Mutation_p.G1002E	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1002	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTTCTTGGTCCCCAGGTGTCC	0.597000													6	34					0	0	0.021553	0	0
AFF4	27125	broad.mit.edu	37	5	132269973	132269973	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:132269973C>T	ENST00000265343.5	-	3	1163	c.784G>A	c.(784-786)Gga>Aga	p.G262R	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.G262R	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	262	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTCCTGTCCGTCCATGGGC	0.512000													15	61					0	0	0.146539	0	0
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr17:7579374C>A	ENST00000420246.2	-	4	445	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	TP53_ENST00000269305.4_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (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.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		CCGTAGCTGCCCTGGTAGGTT	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	38					3.99451e-17	4.54277e-17	0.144211	1	0
THAP11	57215	broad.mit.edu	37	16	67876720	67876720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr16:67876720G>C	ENST00000303596.1	+	1	508	c.263G>C	c.(262-264)cGc>cCc	p.R88P	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTCAATGAGCGCAAAGTAGCG	0.682000													7	17					0	0	0.038147	0	0
TCTE1	202500	broad.mit.edu	37	6	44254022	44254022	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr6:44254022C>T	ENST00000371505.4	-	3	647	c.525G>A	c.(523-525)gcG>gcA	p.A175A	TCTE1_ENST00000371504.1_Silent_p.A22A|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Silent_p.A22A	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	175										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CGAGGATCACCGCAGGGTCTG	0.652000													20	41					0	0	0.043863	0	0
ZNF189	7743	broad.mit.edu	37	9	104170879	104170879	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr9:104170879G>A	ENST00000374861.3	+	3	1071	c.787G>A	c.(787-789)Gag>Aag	p.E263K	ZNF189_ENST00000339664.2_Missense_Mutation_p.E277K|ZNF189_ENST00000259395.4_Missense_Mutation_p.E235K	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	277					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				ACACCTTATTGAGCATCAAAG	0.393000													55	106					0	0	0.139131	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	17					0	0	0.093190	0	0
AFF2	2334	broad.mit.edu	37	X	148055022	148055022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chrX:148055022G>A	ENST00000370460.2	+	16	3768	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	AFF2_ENST00000342251.3_Missense_Mutation_p.V1064M|AFF2_ENST00000370457.5_Missense_Mutation_p.V1062M|AFF2_ENST00000286437.5_Missense_Mutation_p.V738M	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1097					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAAAGCTGTGAATTATGC	0.463000													25	85					0	0	0.099896	0	0
SORCS3	22986	broad.mit.edu	37	10	106899230	106899230	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr10:106899230T>C	ENST00000369701.3	+	8	1515	c.1288T>C	c.(1288-1290)Tac>Cac	p.Y430H		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	430						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCTGCCTAAGTACTCGTTGCC	0.512000													14	53					0	0	0.146539	0	0
CYB5R1	51706	broad.mit.edu	37	1	202935050	202935050	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:202935050C>T	ENST00000367249.4	-	4	384	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	104	FAD-binding FR-type.				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGATCCTCATCACTGGTGACA	0.507000													6	26					0	0	0.021553	0	0
TNKS	8658	broad.mit.edu	37	8	9605599	9605599	+	Silent	SNP	G	G	A	rs35491087	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr8:9605599G>A	ENST00000310430.6	+	18	2735	c.2709G>A	c.(2707-2709)gcG>gcA	p.A903A	TNKS_ENST00000518281.1_Silent_p.A666A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	903					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATAAGTGGGCGTTTACTCCCC	0.473000													8	31					0	0	0.038147	0	0
SEC61A2	55176	broad.mit.edu	37	10	12191922	12191922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr10:12191922G>A	ENST00000379033.3	+	5	505	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SEC61A2_ENST00000379017.3_Missense_Mutation_p.E142K|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379051.1_Missense_Mutation_p.E142K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.E142K|SEC61A2_ENST00000298428.9_Missense_Mutation_p.E142K|SEC61A2_ENST00000304267.8_Missense_Mutation_p.E142K	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	142						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGACCCTGCAGAAATGGGTGC	0.428000													15	60					0	0	0.033300	0	0
HBG2	3048	broad.mit.edu	37	11	5274626	5274626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr11:5274626T>A	ENST00000380259.2	-	8	1565	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	HBG2_ENST00000336906.4_Missense_Mutation_p.N109Y|HBG2_ENST00000380252.1_Missense_Mutation_p.N99Y					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGCACATTTCCCAGGAGC	0.522000													7	27					0	0	0.069234	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892282	130892282	+	Missense_Mutation	SNP	C	C	T	rs142858015	byFrequency	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:130892282C>T	ENST00000261655.4	-	16	3077	c.2914G>A	c.(2914-2916)Gtc>Atc	p.V972I		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	972	SH3 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGACATCGACGTTGGGCGAG	0.567000													52	186					0	0	0.139131	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077219	34077219	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr17:34077219G>A	ENST00000254466.6	-	2	531	c.504C>T	c.(502-504)ctC>ctT	p.L168L	GAS2L2_ENST00000587565.1_Silent_p.L168L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	168					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGCTGCACGAGTGTGGGCG	0.721000													31	132					0	0	0.050027	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	36					0	0	0.021553	0	0
GRM8	2918	broad.mit.edu	37	7	126746580	126746580	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr7:126746580C>T	ENST00000339582.2	-	3	1505	c.697G>A	c.(697-699)Gag>Aag	p.E233K	GRM8_ENST00000444921.2_Missense_Mutation_p.E233K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E233K|GRM8_ENST00000405249.1_Missense_Mutation_p.E233K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	233					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTGAAGGCCTCCACACCGCTC	0.498000										HNSCC(24;0.065)			7	20					0	0	0.029380	0	0
FAT1	2195	broad.mit.edu	37	4	187549812	187549812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr4:187549812G>A	ENST00000441802.2	-	8	4638	c.4429C>T	c.(4429-4431)Caa>Taa	p.Q1477*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1477	Cadherin 13.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCACTGATTTGCAAAATTTCT	0.393000										HNSCC(5;0.00058)			9	27					0	0	0.069234	0	0
CELF2	10659	broad.mit.edu	37	10	11370983	11370983	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr10:11370983G>A	ENST00000379261.4	+	13	1586	c.1494G>A	c.(1492-1494)ctG>ctA	p.L498L	CELF2_ENST00000542579.1_Silent_p.L511L|CELF2_ENST00000354440.2_Silent_p.L480L|CELF2_ENST00000450189.1_Silent_p.L511L|CELF2_ENST00000354897.3_Silent_p.L492L|CELF2_ENST00000427450.1_Silent_p.L480L|CELF2_ENST00000399850.3_Silent_p.L480L|CELF2_ENST00000416382.2_Silent_p.L498L|CELF2_ENST00000417956.2_Silent_p.L478L|CELF2_ENST00000537122.1_Silent_p.L393L|CELF2_ENST00000315874.3_Silent_p.L480L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	498	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						AGGTGCAGCTGAAGCGTTCCA	0.488000													12	59					0	0	0.105934	0	0
ADAM28	10863	broad.mit.edu	37	8	24209561	24209561	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr8:24209561C>G	ENST00000265769.4	+	21	2350	c.2240C>G	c.(2239-2241)tCt>tGt	p.S747C	ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	747					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCCCCAGCCTCTTTTGTGAGT	0.408000													9	58					0	0	0.058154	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	32					0	0	0.014758	0	0
MAEL	84944	broad.mit.edu	37	1	166985521	166985521	+	Splice_Site	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:166985521C>T	ENST00000367872.4	+	9	1152	c.908_splice	c.e9+1	p.A303_splice	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Splice_Site_p.A272_splice	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	303					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	p.A303V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AAGAAGATTGCGTAAGTTGGG	0.368000													11	52					0	0	0.080935	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31965096	31965096	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr21:31965096G>A	ENST00000391624.1	+	1	338	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						TACTACTATTGAGGACACCAT	0.512000													3	11					0	0	0.115264	0	0
TRIO	7204	broad.mit.edu	37	5	14488246	14488246	+	Silent	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:14488246G>C	ENST00000344204.4	+	48	7533	c.7509G>C	c.(7507-7509)ccG>ccC	p.P2503P	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2503					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|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCACCTTCCCGGGGGACAGCG	0.721000													4	15					0	0	0.014758	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4665701	4665701	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:4665701T>C	ENST00000543041.1	+	7	858	c.550T>C	c.(550-552)Tgg>Cgg	p.W184R	RAD51AP1_ENST00000228843.9_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000352618.4_Intron|RAD51AP1_ENST00000321524.7_Intron			Q96B01	R51A1_HUMAN	RAD51 associated protein 1	307					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GACAGGAGCTTGGAAAATTAT	0.378000													5	25					0	0	0.014758	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561896	11561896	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:11561896G>A	ENST00000294484.6	+	2	985	c.847G>A	c.(847-849)Ggc>Agc	p.G283S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.G283S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	283					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGCGCGCGGCGACGCGGA	0.647000													5	20					0	0	0.029380	0	0
CLEC9A	283420	broad.mit.edu	37	12	10213747	10213747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:10213747C>T	ENST00000355819.1	+	6	807	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	65					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCCACCATTGCGATGCAGCAG	0.403000													5	16					0	0	0.014758	0	0
RASAL2	9462	broad.mit.edu	37	1	178411963	178411963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:178411963G>A	ENST00000448150.3	+	8	1845	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	RASAL2_ENST00000462775.1_Missense_Mutation_p.G213S|RASAL2_ENST00000367649.3_Missense_Mutation_p.G361S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	213	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TATTTTCTGGGGCGAACATTT	0.388000													16	84					0	0	0.043863	0	0
OR4C15	81309	broad.mit.edu	37	11	55322484	55322484	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr11:55322484G>T	ENST00000314644.2	+	1	702	c.702G>T	c.(700-702)ttG>ttT	p.L234F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTGTGACTTGTACCCGTTAC	0.458000										HNSCC(20;0.049)			7	27					0.0293803	0.0304296	0.029380	1	0
RNF128	79589	broad.mit.edu	37	X	105937342	105937342	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chrX:105937342A>G	ENST00000324342.3	+	1	275	c.110A>G	c.(109-111)tAc>tGc	p.Y37C		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	52						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGACTTATTACAATGAAACC	0.388000													24	90					0	0	0.076483	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475797	140475797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:140475797G>A	ENST00000194155.4	+	1	1571	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		475	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCGGCAGCGTCAGCGCCAC	0.667000													34	117					0	0	0.131918	0	0
CARM1	10498	broad.mit.edu	37	19	11018790	11018790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr19:11018790C>T	ENST00000327064.4	+	3	612	c.422C>T	c.(421-423)aCg>aTg	p.T141M	CARM1_ENST00000344150.4_Missense_Mutation_p.T141M	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	141					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AGCGAGCGGACGGAGGAGTCT	0.637000													15	77					0	0	0.146539	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43472974	43472974	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr17:43472974G>A	ENST00000532038.1	-	16	1987	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R472C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R818C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R499C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R813C|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R840C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R499C			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	840					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACCGACATGCGGTTCTGCTCG	0.667000													3	9					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126371855	126371855	+	Silent	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr4:126371855G>C	ENST00000394329.3	+	9	9697	c.9684G>C	c.(9682-9684)gtG>gtC	p.V3228V	FAT4_ENST00000335110.5_Silent_p.V1526V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3228	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAATGCTGTGATTGCGTATA	0.428000													9	50					0	0	0.058154	0	0
TIPARP	25976	broad.mit.edu	37	3	156396202	156396202	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr3:156396202G>A	ENST00000461166.1	+	2	1304	c.716G>A	c.(715-717)gGa>gAa	p.G239E	TIPARP_ENST00000486483.1_Missense_Mutation_p.G239E|TIPARP_ENST00000295924.7_Missense_Mutation_p.G239E|TIPARP_ENST00000542783.1_Missense_Mutation_p.G239E	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	239							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAAGAGAACGGAATTGAAATT	0.458000													22	127					0	0	0.069288	0	0
FIGN	55137	broad.mit.edu	37	2	164467771	164467771	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr2:164467771C>T	ENST00000333129.3	-	3	885	c.571G>A	c.(571-573)Gga>Aga	p.G191R	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	191						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAATATGATCCGTTGTATCCT	0.507000													6	39					0	0	0.021553	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595724	140595724	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:140595724G>C	ENST00000341948.4	+	1	2216	c.2029G>C	c.(2029-2031)Gcc>Ccc	p.A677P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		677					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGAGGCGGCCCCGACCCA	0.682000													36	114					0	0	0.074837	0	0
RBM12B	389677	broad.mit.edu	37	8	94746535	94746535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr8:94746535G>A	ENST00000399300.2	-	3	2317	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	702							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCTCTGGGGGCCGCCTGAAG	0.642000													34	124					0	0	0.050027	0	0
DUSP27	92235	broad.mit.edu	37	1	167095880	167095880	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr1:167095880G>A	ENST00000361200.2	+	6	1678	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	DUSP27_ENST00000443333.1_Silent_p.A504A|DUSP27_ENST00000271385.5_Silent_p.A504A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	504					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGAGGAGGCGGCAGACAGGA	0.602000													11	29					0	0	0.080935	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14782606	14782606	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr18:14782606A>C	ENST00000358984.4	+	12	1743	c.1563A>C	c.(1561-1563)gaA>gaC	p.E521D	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E521D	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	521										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAATAGAGAAGTAGAAGGTA	0.313000													6	13					0	0	0.021553	0	0
CCDC107	203260	broad.mit.edu	37	9	35658653	35658653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr9:35658653G>A	ENST00000421582.2	+	2	250	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	CCDC107_ENST00000327351.2_Missense_Mutation_p.A63T|CCDC107_ENST00000426546.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378407.3_Missense_Mutation_p.A63T|CCDC107_ENST00000378406.1_Missense_Mutation_p.A63T|CCDC107_ENST00000378409.3_Missense_Mutation_p.A63T			Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	63						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCGGACCCGGGCCGGGTCGCT	0.716000													8	13					0	0	0.038147	0	0
LRP1	4035	broad.mit.edu	37	12	57579467	57579467	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:57579467G>T	ENST00000243077.3	+	41	7083	c.6617G>T	c.(6616-6618)cGc>cTc	p.R2206L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2206					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TACTCAGAGCGCACCATTCTC	0.642000													6	22					0.0215528	0.0227284	0.021553	1	0
OPLAH	26873	broad.mit.edu	37	8	145107418	145107418	+	Silent	SNP	G	G	A			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr8:145107418G>A	ENST00000426825.1	-	23	3318	c.3237C>T	c.(3235-3237)aaC>aaT	p.N1079N	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1079							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGTGAGCACGTTGCCGCCCA	0.771000													3	7					0	0	0.115264	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	RNA	SNP	A	A	C			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr5:1593386A>C	ENST00000436493.2	-	0	239																											CTGGCCATTCACGTGCCTCAG	0.597000													3	39					0	0	0.115264	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	46					0	0	0.009096	0	0
ZCCHC13	389874	broad.mit.edu	37	X	73524270	73524270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chrX:73524270G>T	ENST00000339534.2	+	1	246	c.169G>T	c.(169-171)Gct>Tct	p.A57S		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	57							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						CGGTCGTAATGCTAAGAACTG	0.527000													6	27					0.00116845	0.00124348	0.021553	1	0
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	by1000genomes	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr21:11058248G>A	ENST00000470054.1	-	0	399									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433000													13	105					0	0	0.033300	0	0
GS1-124K5.2	0	broad.mit.edu	37	7	65888987	65888988	+	RNA	INS	-	-	T	rs77289928		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:65888987_65888988insT	ENST00000442578.1	-	0	826																											Ctttttttttcttttttttttt	0.485													2	4	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100388502	100388504	+	RNA	DEL	AAA	AAA	-	rs5886138		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr7:100388502_100388504delAAA	ENST00000542585.1	+	0	7502				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaaaa	0.527													2	4	---	---	---	---					
APOLD1	81575	broad.mit.edu	37	12	12940351	12940353	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr12:12940351_12940353delTCT	ENST00000356591.4	+	2	597_599	c.512_514delTCT	c.(511-516)gtc>g	p.VF171del	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_In_Frame_Del_p.VF202del	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	202					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)		TACTTCATCGTCTTCTTTGGCTC	0.616													45	129	---	---	---	---					
LOC100134368	100134368	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													2	4	---	---	---	---					
MORC4	79710	broad.mit.edu	37	X	106228467	106228468	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	741ec714-2c58-4d0c-a373-be69346da938	g.chrX:106228467_106228468insT	ENST00000355610.4	-	5	806_807	c.532_533insA	c.(532-534)gatfs	p.D178fs	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Frame_Shift_Ins_p.D178fs	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	178							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTAATAATCATTTTTTGTAAA	0.361													15	54	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100388502	100388504	+	RNA	DEL	AAA	AAA	-	rs5886138		TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr7:100388502_100388504delAAA	ENST00000542585.1	+	0	7502				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaaaa	0.527													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													5	2	---	---	---	---					
APOLD1	81575	broad.mit.edu	37	12	12940351	12940353	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr12:12940351_12940353delTCT	ENST00000356591.4	+	2	597_599	c.512_514delTCT	c.(511-516)gtc>g	p.VF171del	APOLD1_ENST00000326765.6_In_Frame_Del_p.VF202del|RP11-59H1.3_ENST00000534843.1_Intron	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	202					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)		TACTTCATCGTCTTCTTTGGCTC	0.616													45	129	---	---	---	---					
LOC100134368	100134368	broad.mit.edu	37	16	437259	437260	+	RNA	DEL	AT	AT	-			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chr16:437259_437260delAT	ENST00000412293.1	+	0	521					NR_024453.2																						CTAATTCTAAATATATATATAT	0.421													2	4	---	---	---	---					
MORC4	79710	broad.mit.edu	37	X	106228467	106228468	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7413-01A-11D-2078-08	TCGA-CV-7413-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be482a19-0de0-4e60-a831-9ebe8545a6f3	f1a86ffc-1ef4-4a37-b3b8-5971f31e0842	g.chrX:106228467_106228468insT	ENST00000355610.4	-	5	806_807	c.532_533insA	c.(532-534)gatfs	p.D178fs	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Frame_Shift_Ins_p.D178fs	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	178							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGTAATAATCATTTTTTGTAAA	0.361													15	54	---	---	---	---					
