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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TCTN1	79600	broad.mit.edu	37	12	111070319	111070319	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:111070319C>T	uc001trn.4	+	4	823	c.667C>T	c.(667-669)Cct>Tct	p.P223S	TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Missense_Mutation_p.P223S|TCTN1_uc001trm.3_Missense_Mutation_p.P163S|TCTN1_uc001trp.4_Missense_Mutation_p.P223S|TCTN1_uc001trj.2_Missense_Mutation_p.P167S|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	223					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTGAGATTTCCTTCGTCCCT	0.398000														150			38		0	0	0.000374591	0	0
TXN2	25828	broad.mit.edu	37	22	36876727	36876727	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr22:36876727T>C	uc003apk.1	-	1	235	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	TXN2_uc003apl.1_Non-coding_Transcript	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	53					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						CCTCGTGGTGTATATTGTCCG	0.542000														81			19		0	0	0.000229342	0	0
ATG2A	23130	broad.mit.edu	37	11	64679328	64679328	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:64679328T>A	uc001obx.3	-	8	1329	c.1214A>T	c.(1213-1215)cAg>cTg	p.Q405L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	405							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGTGGGCCTGGGCAGAGAG	0.647000														25			10		0	0	0.000442599	0	0
CNTN6	27255	broad.mit.edu	37	3	1371578	1371578	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:1371578C>G	uc003boz.3	+	10	1590	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	CNTN6_uc011asj.2_Missense_Mutation_p.I369M|CNTN6_uc003bpa.3_Missense_Mutation_p.I441M	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	441	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGCAGCTATCTCTTGGAAAA	0.333000														32			12		0	0	0.00010058	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984099	223984099	+	Silent	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:223984099A>G	uc001hod.3	-	13	2566	c.1755T>C	c.(1753-1755)aaT>aaC	p.N585N	TP53BP2_uc010pvb.2_Silent_p.N714N|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Silent_p.N353N	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	708					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCGGTAAGGATTAGATAAGA	0.438000														143			43		0	0	0.000781405	0	0
QTRT1	81890	broad.mit.edu	37	19	10823458	10823458	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:10823458A>G	uc002mpr.3	+	7	911	c.886A>G	c.(886-888)Act>Gct	p.T296A	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	296					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCTGGTGCCCACTGGGAACCT	0.622000														125			31		0	0	0.000228196	0	0
INSRR	3645	broad.mit.edu	37	1	156811976	156811976	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:156811976T>G	uc010pht.2	-	18	3624	c.3325A>C	c.(3325-3327)Aac>Cac	p.N1109H	NTRK1_uc001fqf.1_Missense_Mutation_p.L38W|NTRK1_uc009wsi.1_5'UTR	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1109	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACAAACTTGTTGGCAGCAAGG	0.572000														23			9		0	0	0.000673444	0	0
C1orf21	81563	broad.mit.edu	37	1	184476745	184476745	+	Nonsense_Mutation	SNP	G	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:184476745G>T	uc001gqv.1	+	2	595	c.118G>T	c.(118-120)Gaa>Taa	p.E40*		NM_030806	NP_110433	Q9H246	CA021_HUMAN	Homo sapiens chromosome 1 open reading frame 21 (C1orf21), mRNA.	40										breast(1)|lung(1)	2		Breast(1374;0.00262)		Colorectal(1306;4.8e-08)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)		CAAACCAGTGGAAGAGGTCAA	0.348000														52			13		2.23348e-06	4.66404e-05	0.000422831	1	0
OGDH	4967	broad.mit.edu	37	7	44685022	44685022	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr7:44685022G>T	uc003tln.3	+	2	478	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	OGDH_uc003tlm.3_Missense_Mutation_p.V107L|OGDH_uc011kbx.2_Missense_Mutation_p.V107L|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Missense_Mutation_p.V107L|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCTGGCTGCTGTGGCCCATGC	0.597000														113			31		2.81731e-10	6.17374e-09	0.000339439	1	0
CPNE5	57699	broad.mit.edu	37	6	36712081	36712081	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:36712081T>A	uc003omr.1	-	18	1520	c.1453A>T	c.(1453-1455)Atc>Ttc	p.I485F	CPNE5_uc003omp.1_Missense_Mutation_p.I193F|CPNE5_uc010jwn.1_Missense_Mutation_p.I135F|CPNE5_uc003omq.1_Missense_Mutation_p.I135F	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	485	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACGATAATGATGGACATGGGG	0.607000														4			3		0	0	3.59834e-05	0	0
CENPE	1062	broad.mit.edu	37	4	104117130	104117130	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:104117130G>A	uc003hxb.1	-	3	394	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	CENPE_uc003hxc.1_Missense_Mutation_p.H102Y	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	102	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.H102Y(2)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTCCCAAATGATCTTCTGAA	0.348000														36			7		0	0	0.000157383	0	0
SBNO1	55206	broad.mit.edu	37	12	123806180	123806180	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:123806180T>C	uc010tap.2	-	15	2225	c.2225A>G	c.(2224-2226)aAt>aGt	p.N742S	SBNO1_uc010tao.2_Missense_Mutation_p.N741S|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.N741S|SBNO1_uc001uet.2_Missense_Mutation_p.N742S|SBNO1_uc001uev.2_Missense_Mutation_p.N740S|SBNO1_uc009zxy.1_Missense_Mutation_p.N707S	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	742							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTTTCTTCATTATCAGAGGC	0.403000														107			81		0	0	0.000781405	0	0
PEX10	5192	broad.mit.edu	37	1	2340282	2340282	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:2340282C>G	uc001ajg.3	-	2	278	c.209G>C	c.(208-210)gGg>gCg	p.G70A	PEX10_uc001ajh.3_Missense_Mutation_p.G70A	NM_153818	NP_722540	O60683	PEX10_HUMAN	Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript variant 1, mRNA.	70					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein C-terminus binding|protein binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		GTACTCCTCCCCCAGGGTCTG	0.677000														31			11		0	0	0.00010058	0	0
BBS1	582	broad.mit.edu	37	11	66282135	66282135	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:66282135A>G	uc001oii.1	+	3	607	c.529A>G	c.(529-531)Aac>Gac	p.N177D	BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Missense_Mutation_p.N140D|BBS1_uc010rpg.1_Missense_Mutation_p.N140D|BBS1_uc001oij.1_Missense_Mutation_p.N140D|BBS1_uc001oik.1_Missense_Mutation_p.N64D	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	140					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AGACCTTTGGAACCAGGCCAA	0.502000									Bardet-Biedl syndrome					80			22		0	0	0.000295444	0	0
CACNA1C	775	broad.mit.edu	37	12	2716231	2716231	+	Silent	SNP	C	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:2716231C>T	uc009zdu.1	+	26	3664	c.3351C>T	c.(3349-3351)gaC>gaT	p.D1117D	CACNA1C_uc001qkc.2_Silent_p.D1097D|CACNA1C_uc001qjz.2_Silent_p.D1097D|CACNA1C_uc001qkd.2_Silent_p.D1097D|CACNA1C_uc001qke.2_Silent_p.D1097D|CACNA1C_uc001qkf.2_Silent_p.D1097D|CACNA1C_uc009zdw.1_Silent_p.D1097D|CACNA1C_uc001qkg.2_Silent_p.D1097D|CACNA1C_uc001qkh.2_Silent_p.D1097D|CACNA1C_uc001qkl.2_Silent_p.D1117D|CACNA1C_uc001qkj.2_Silent_p.D1097D|CACNA1C_uc001qkk.2_Silent_p.D1097D|CACNA1C_uc001qkn.2_Silent_p.D1097D|CACNA1C_uc001qkm.2_Silent_p.D1097D|CACNA1C_uc001qko.2_Silent_p.D1117D|CACNA1C_uc001qkp.2_Silent_p.D1097D|CACNA1C_uc001qkq.2_Silent_p.D1097D|CACNA1C_uc001qku.2_Silent_p.D1097D|CACNA1C_uc001qkr.2_Silent_p.D1097D|CACNA1C_uc001qks.2_Silent_p.D1097D|CACNA1C_uc001qkt.2_Silent_p.D1097D|CACNA1C_uc009zdv.1_Silent_p.D1094D|CACNA1C_uc001qkb.2_Silent_p.D1097D|CACNA1C_uc001qka.1_Silent_p.D632D|CACNA1C_uc001qki.1_Silent_p.D833D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1117	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAAGTTTGACTTTGACAATG	0.567000														28			10		0	0	0.000978159	0	0
WSCD1	23302	broad.mit.edu	37	17	6012935	6012935	+	Silent	SNP	C	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:6012935C>G	uc010cli.3	+	5	1237	c.858C>G	c.(856-858)ccC>ccG	p.P286P	WSCD1_uc002gcn.3_Silent_p.P286P|WSCD1_uc002gco.3_Silent_p.P286P|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	286	WSC 2.					integral to membrane	sulfotransferase activity	p.P286P(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGGAGTTCCCCTTGGCCATTC	0.557000														230			75		0	0	0.000781405	0	0
ATXN2	6311	broad.mit.edu	37	12	111908459	111908459	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:111908459G>C	uc001tsj.3	-	18	3248	c.3086C>G	c.(3085-3087)gCc>gGc	p.A1029G	ATXN2_uc001tsh.3_Missense_Mutation_p.A764G|ATXN2_uc001tsi.3_Missense_Mutation_p.A740G|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Missense_Mutation_p.A48G	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1029	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTGGGGTGGCTGCAATCGG	0.532000														102			57		0	0	0.000781405	0	0
VGLL3	389136	broad.mit.edu	37	3	87017993	87017993	+	Silent	SNP	C	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:87017993C>T	uc003dqn.3	-	2	1048	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	228	His-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R228W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GGTGGTGGTGCCGCATGTACA	0.612000														51			17		0	0	0.000132079	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140802438	140802438	+	Silent	SNP	G	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:140802438G>C	uc003lkq.2	+	0	1902	c.1644G>C	c.(1642-1644)tcG>tcC	p.S548S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.S548S|PCDHGC5_uc003lkp.2_Silent_p.S548S	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	549	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGTCGCTGAGCCTGT	0.607000														209			42		0	0	0.000781405	0	0
SRRM2	23524	broad.mit.edu	37	16	2808492	2808492	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr16:2808492T>A	uc002crk.3	+	4	1086	c.537T>A	c.(535-537)agT>agA	p.S179R	SRRM2_uc002crj.1_Missense_Mutation_p.S83R|SRRM2_uc002crl.1_Missense_Mutation_p.S179R|SRRM2_uc010bsu.1_Missense_Mutation_p.S83R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	179	Ser-rich.			SS -> NN (in Ref. 2; AAF21439).		Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTCTAGCAGTTCTCGCTCAC	0.423000														169			40		0	0	0.000270559	0	0
SLC2A8	29988	broad.mit.edu	37	9	130160364	130160364	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr9:130160364T>A	uc004bqu.3	+	2	445	c.400T>A	c.(400-402)Tgc>Agc	p.C134S	SLC2A8_uc010mxj.3_Missense_Mutation_p.C134S	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	134						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CGGCCTGGCCTGCGGTGTTGC	0.697000														12			6		0	0	0.000157383	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:163215G>A	uc010lra.3	-	3		c.918C>T			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		AGATACACATGTATTTAGAGT	0.323000														55			5		0	0	0.000157383	0	0
OSGIN2	734	broad.mit.edu	37	8	90936955	90936955	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:90936955G>C	uc003yeh.3	+	5	1105	c.845G>C	c.(844-846)aGg>aCg	p.R282T	OSGIN2_uc003yeg.3_Missense_Mutation_p.R238T	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	238					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGGAAATTAGGGGTTATCAG	0.418000														57			29		0	0	0.00106085	0	0
THOC2	57187	broad.mit.edu	37	X	122770007	122770007	+	Silent	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chrX:122770007A>G	uc004etu.3	-	18	1973	c.1941T>C	c.(1939-1941)ggT>ggC	p.G647G	THOC2_uc011muh.1_Silent_p.G572G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	647					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAAAAACTGCACCACAGAAAC	0.323000														33			26		0	0	0.000184323	0	0
CLCNKA	1187	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:16378296A>C	uc001axx.4	+	13	1525	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKA_uc021ogl.1_Silent_p.P110P|CLCNKA_uc021ogm.1_Silent_p.P294P|CLCNKA_uc001axy.4_Silent_p.P294P	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	463					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCATCATGCCAGGGGGGTATG	0.622000														82			4		0	0	0.000602214	0	0
CATSPERD	257062	broad.mit.edu	37	19	5744442	5744442	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:5744442A>G	uc002mda.3	+	7	639	c.578A>G	c.(577-579)gAa>gGa	p.E193G	CATSPERD_uc010duj.1_Intron	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	193						integral to membrane											TCATAGGCAGAAATCATTGGG	0.368000														83			15		0	0	0.000219431	0	0
GPR32	2854	broad.mit.edu	37	19	51273914	51273914	+	Silent	SNP	G	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:51273914G>C	uc010ycf.2	+	0	57	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	19						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTGGGGTCCTGACACGTGATC	0.512000														27			8		0	0	0.000157383	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110034064	110034064	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:110034064C>A	uc001dxr.3	+	9	1894	c.1879C>A	c.(1879-1881)Ctg>Atg	p.L627M	ATXN7L2_uc001dxs.3_Missense_Mutation_p.L254M|CYB561D1_uc010ovl.2_5'Flank|CYB561D1_uc010ovm.2_5'Flank|CYB561D1_uc001dxu.3_5'Flank|CYB561D1_uc001dxw.3_5'Flank|CYB561D1_uc010ovn.2_5'Flank|CYB561D1_uc010ovo.2_5'Flank|CYB561D1_uc009wfd.3_5'Flank|CYB561D1_uc010ovp.2_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	627										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCAGGGCCCCTGGACTGTCG	0.622000														25			16		1.67942e-08	3.63532e-07	0.00074312	1	0
DOPEY1	23033	broad.mit.edu	37	6	83839062	83839062	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:83839062C>A	uc011dyy.2	+	15	2409	c.2149C>A	c.(2149-2151)Caa>Aaa	p.Q717K	DOPEY1_uc003pjs.1_Missense_Mutation_p.Q726K|DOPEY1_uc010kbl.1_Missense_Mutation_p.Q717K	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	726					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGAAATTCACAAGGAGATGT	0.398000														57			15		2.61681e-11	5.80606e-10	0.000219431	1	0
DUSP11	8446	broad.mit.edu	37	2	74007101	74007101	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr2:74007101T>C	uc002sjp.3	-	0	184	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	DUSP11_uc002sjq.4_Missense_Mutation_p.M48V	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	1					RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						CACTGGCTCATGTGGGTCCCA	0.607000											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			22		0	0	0.000295444	0	0
MTHFD1	4522	broad.mit.edu	37	14	64915025	64915025	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr14:64915025A>C	uc001xhb.3	+	22	2656	c.2269A>C	c.(2269-2271)Aat>Cat	p.N757H	MTHFD1_uc010aqf.3_Missense_Mutation_p.N813H	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	757	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGTGGCCGTGAATGCATTCAA	0.383000														40			10		0	0	0.000978159	0	0
TRIM38	10475	broad.mit.edu	37	6	25967011	25967011	+	Silent	SNP	G	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:25967011G>C	uc003nfm.3	+	2	696	c.261G>C	c.(259-261)acG>acC	p.T87T		NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	87					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	p.T87T(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TCAAAGAGACGGATCAAGAAA	0.562000														34			17		0	0	0.000422831	0	0
STON2	85439	broad.mit.edu	37	14	81744521	81744521	+	Silent	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr14:81744521G>A	uc010tvu.2	-	3	1332	c.1134C>T	c.(1132-1134)caC>caT	p.H378H	STON2_uc001xvk.1_Silent_p.H378H|STON2_uc010tvt.2_Silent_p.H175H	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	378					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	p.H378Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGCATCAGAGTGTGACTGGG	0.448000														91			26		0	0	0.000878237	0	0
DCXR	51181	broad.mit.edu	37	17	79994491	79994491	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:79994491C>A	uc002kdg.3	-	4	392	c.377G>T	c.(376-378)gGa>gTa	p.G126V	DCXR_uc021ufk.1_Missense_Mutation_p.G124V	NM_016286	NP_057370	Q7Z4W1	DCXR_HUMAN	Homo sapiens dicarbonyl/L-xylulose reductase (DCXR), transcript variant 1, mRNA.	126					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	L-xylulose reductase (NADP+) activity|binding	p.G126*(1)		kidney(1)|lung(3)	4	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCTGGGACTCCCCGGGCTAT	0.622000														63			16		6.31663e-08	1.33476e-06	0.000308642	1	0
SLC2A14	144195	broad.mit.edu	37	12	7982586	7982586	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:7982586T>A	uc010sgh.2	-	3	424	c.403A>T	c.(403-405)Att>Ttt	p.I135F	SLC2A14_uc001qtk.3_Missense_Mutation_p.I120F|SLC2A14_uc001qtl.3_Missense_Mutation_p.I97F|SLC2A14_uc001qtm.3_Missense_Mutation_p.I97F|SLC2A14_uc010sgg.2_Missense_Mutation_p.I11F|SLC2A14_uc001qtn.3_Missense_Mutation_p.I120F|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	120					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGTTGACAATCAGCATTGAA	0.458000														54			12		0	0	0.000151284	0	0
TLR1	7096	broad.mit.edu	37	4	38798114	38798114	+	Missense_Mutation	SNP	A	T	T	rs151285692		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:38798114A>T	uc003gtl.3	-	3	2613	c.2339T>A	c.(2338-2340)cTg>cAg	p.L780Q	TLR1_uc021xnn.1_Missense_Mutation_p.L780Q	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	780					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGCTCTGTCAGCTTAATATT	0.388000														51			5		0	0	8.12818e-05	0	0
TMEM133	83935	broad.mit.edu	37	11	100863392	100863392	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:100863392T>A	uc001pgf.3	+	0	582	c.353T>A	c.(352-354)cTt>cAt	p.L118H		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	118						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CCAGTTCCACTTGGTAATAAC	0.388000														92			24		0	0	0.000586117	0	0
TMED3	23423	broad.mit.edu	37	15	79606106	79606106	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr15:79606106C>G	uc002beu.3	+	1	277	c.176C>G	c.(175-177)aCt>aGt	p.T59S	TMED3_uc010unj.1_Missense_Mutation_p.T59S|TMED3_uc002bev.3_Non-coding_Transcript	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA.	59	GOLD.				protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						CAGGTCATCACTGGAGGCCAC	0.478000														39			8		0	0	0.000157383	0	0
CELA2A	63036	broad.mit.edu	37	1	15793929	15793929	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:15793929C>T	uc001awk.3	+	6	714	c.688C>T	c.(688-690)Cag>Tag	p.Q230*		NM_033440	NP_254275	P08217	CEL2A_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA.	230	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CGGCCGGTGGCAGGTGCACGG	0.607000														48			8		0	0	0.000157383	0	0
SMEK2	57223	broad.mit.edu	37	2	55844410	55844410	+	Silent	SNP	C	T	T	rs142775723		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr2:55844410C>T	uc002rzc.3	-	0	704	c.12G>A	c.(10-12)acG>acA	p.T4T	SMEK2_uc002rzb.3_Silent_p.T4T|SMEK2_uc002rzd.3_Silent_p.T4T|SMEK2_uc002rze.3_Non-coding_Transcript	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	4	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCGCCGCCGCGTATCCGACA	0.622000														20			4		0	0	0.00024832	0	0
MET	4233	broad.mit.edu	37	7	116423407	116423407	+	Missense_Mutation	SNP	G	C	C	rs121913671		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr7:116423407G>C	uc003vij.3	+	18	3869	c.3682G>C	c.(3682-3684)Gac>Cac	p.D1228H	MET_uc010lkh.3_Missense_Mutation_p.D1246H|MET_uc011knj.2_Missense_Mutation_p.D798H	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1228	Interaction with RANBP9.|Protein kinase.		D -> H (in RCCP; somatic mutation).|D -> N (in RCCP; germline mutation).		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.D1246H(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTTGCCAGAGACATGTATGA	0.378000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					57			21		0	0	0.000586117	0	0
GRIK4	2900	broad.mit.edu	37	11	120745883	120745883	+	Silent	SNP	C	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:120745883C>T	uc001pxn.2	+	10	1382	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	GRIK4_uc009zav.1_Silent_p.F365F|GRIK4_uc009zaw.1_Silent_p.F365F|GRIK4_uc009zax.1_Silent_p.F365F	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	365					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACATTGAATTCAACAGCAAAG	0.502000														95			20		0	0	0.000295444	0	0
SCAPER	49855	broad.mit.edu	37	15	77087751	77087751	+	Silent	SNP	A	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr15:77087751A>T	uc002bby.3	-	6	701	c.642T>A	c.(640-642)cgT>cgA	p.R214R	SCAPER_uc002bbx.3_5'UTR|SCAPER_uc002bbz.1_Silent_p.R79R|SCAPER_uc002bca.1_Silent_p.R79R|SCAPER_uc002bcb.1_Silent_p.R214R|SCAPER_uc002bcc.1_Silent_p.R214R	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	213						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TGGGAGCCAGACGAGGAGCTG	0.418000														59			19		0	0	0.00074312	0	0
SRCAP	10847	broad.mit.edu	37	16	30750805	30750805	+	Missense_Mutation	SNP	T	A	A	rs142948420	byFrequency	TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr16:30750805T>A	uc002dze.1	+	33	9829	c.9444T>A	c.(9442-9444)agT>agA	p.S3148R	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2943R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	3148					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.G3147W(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTGGTGGGAGTCCTGGGCTGG	0.647000														26			4		0	0	3.59834e-05	0	0
PER3	8863	broad.mit.edu	37	1	7887456	7887456	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:7887456G>A	uc001aop.3	+	16	2691	c.2467G>A	c.(2467-2469)Gca>Aca	p.A823T	PER3_uc009vmg.1_Missense_Mutation_p.A823T|PER3_uc009vmh.1_Missense_Mutation_p.A816T|PER3_uc001aoo.3_Missense_Mutation_p.A815T|PER3_uc010nzw.2_Missense_Mutation_p.A504T	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	815	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGAATACGCAGCCCCCGG	0.622000														65			23		0	0	0.000375601	0	0
WDFY3	23001	broad.mit.edu	37	4	85781624	85781624	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:85781624G>A	uc003hpd.3	-	3	529	c.121C>T	c.(121-123)Cac>Tac	p.H41Y	WDFY3_uc003hpf.3_Missense_Mutation_p.H41Y	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	41						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R40Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGAGTCATGTGCCGGGGAGGA	0.577000														100			22		0	0	0.00047179	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439357	14439357	+	RNA	SNP	C	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr21:14439357C>G	uc002yja.4	+	9		c.2875C>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGAATCAGCTCAATCAATCGC	0.279000														5			2		0	0	0.000602214	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219580	42219580	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:42219580G>A	uc002orl.3	+	3	836	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Missense_Mutation_p.A239T	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	239	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGCCCGGATGCCCCCACCAT	0.507000														61			23		0	0	0.00106085	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163187	163187	+	RNA	SNP	T	C	C	rs143599805	by1000genomes	TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:163187T>C	uc010lra.3	-	3		c.946A>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TGAAAAACATTATTCTTTTAT	0.294000														31			4		0	0	0.000602214	0	0
SLC38A1	81539	broad.mit.edu	37	12	46633478	46633478	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:46633478T>A	uc009zkj.1	-	2	791	c.106A>T	c.(106-108)Aat>Tat	p.N36Y	SLC38A1_uc001rpb.3_Missense_Mutation_p.N36Y|SLC38A1_uc001rpc.3_Missense_Mutation_p.N36Y|SLC38A1_uc001rpd.3_Missense_Mutation_p.N36Y|SLC38A1_uc001rpe.3_Missense_Mutation_p.N36Y|SLC38A1_uc010slh.2_Intron|SLC38A1_uc001rpa.3_Missense_Mutation_p.N36Y	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	36					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ATCTGACCATTTTCTACTTCG	0.413000														107			27		0	0	0.000184323	0	0
CSE1L	1434	broad.mit.edu	37	20	47691344	47691344	+	Silent	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr20:47691344A>G	uc002xty.3	+	10	1223	c.1089A>G	c.(1087-1089)gaA>gaG	p.E363E	CSE1L_uc010zyg.2_Silent_p.E146E|CSE1L_uc010ghx.3_Silent_p.E307E|CSE1L_uc010ghy.3_Silent_p.E12E|CSE1L_uc010zyh.2_Silent_p.E12E	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	363					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AAGCATTTGAAGATAATTCTG	0.383000														36			8		0	0	0.000978159	0	0
ADAM32	203102	broad.mit.edu	37	8	39044454	39044454	+	Silent	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:39044454A>G	uc003xmt.4	+	10	1187	c.942A>G	c.(940-942)gcA>gcG	p.A314A	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	314	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTCTGGAGGCATTTGCAGTTA	0.358000														79			28		0	0	0.000279167	0	0
BRWD1	54014	broad.mit.edu	37	21	40582820	40582820	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr21:40582820G>T	uc002yxk.2	-	34	4231	c.3936C>A	c.(3934-3936)aaC>aaA	p.N1312K	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.N1312K|BRWD1_uc010god.1_Intron	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTCAACATAGTTCGTAGCTC	0.348000														49			10		9.05144e-12	2.03371e-10	0.000151284	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131801882	131801882	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr2:131801882G>A	uc002tsa.1	+	11	2129	c.1610G>A	c.(1609-1611)cGc>cAc	p.R537H	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.R537H|ARHGEF4_uc010fmx.1_Missense_Mutation_p.R477H|ARHGEF4_uc002tsc.1_Missense_Mutation_p.R80H	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	537	PH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GACCTGCTCCGCCGCGACGTG	0.642000														10			8		0	0	0.000442599	0	0
HR	55806	broad.mit.edu	37	8	21984840	21984840	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:21984840G>A	uc003xas.3	-	2	1780	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	HR_uc003xat.3_Missense_Mutation_p.P372L	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	372							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)		GTGGCTGGGGGGACAGGCCCT	0.657000														247			7		0	0	0.000157383	0	0
CHDH	55349	broad.mit.edu	37	3	53857341	53857341	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:53857341A>G	uc003dgz.3	-	2	1136	c.695T>C	c.(694-696)aTc>aCc	p.I232T		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	232					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCTTCATGGATGGTCATGTC	0.612000														11			4		0	0	0.000602214	0	0
SLC30A9	10463	broad.mit.edu	37	4	42072612	42072612	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:42072612T>A	uc003gwl.3	+	14	1468	c.1322T>A	c.(1321-1323)cTc>cAc	p.L441H	SLC30A9_uc011byx.2_Missense_Mutation_p.L201H	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	441					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCAGCATTCCTCATCTACACT	0.458000														79			32		0	0	0.000692331	0	0
EPHB1	2047	broad.mit.edu	37	3	134873005	134873005	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:134873005G>A	uc003eqt.3	+	5	1684	c.1309G>A	c.(1309-1311)Gtt>Att	p.V437I	EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	437	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCCTCCACCGTTCCCATCAT	0.532000														286			17		0	0	0.000566183	0	0
NAGS	162417	broad.mit.edu	37	17	42083544	42083544	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:42083544T>C	uc010czn.3	+	2	854	c.854T>C	c.(853-855)cTg>cCg	p.L285P	PYY_uc002ieq.3_5'Flank|NAGS_uc002ies.3_Missense_Mutation_p.L285P|NAGS_uc002iet.3_5'UTR	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	285					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	GCCAAGGCGCTGCGGCCCACC	0.662000														32			9		0	0	0.00010058	0	0
PARP14	54625	broad.mit.edu	37	3	122414352	122414352	+	Silent	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:122414352G>A	uc003efq.4	+	4	737	c.678G>A	c.(676-678)gtG>gtA	p.V226V	PARP14_uc021xdc.1_Silent_p.V90V|PARP14_uc010hrk.3_Non-coding_Transcript	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTCTGGAAGTGACAAACACAA	0.373000														18			5		0	0	0.000602214	0	0
RASIP1	54922	broad.mit.edu	37	19	49230414	49230414	+	Splice_Site	SNP	G	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:49230414G>T	uc002pki.3	-	7	2069	c.1872_splice	c.e7-1	p.N624_splice	RASIP1_uc002pkh.3_5'Flank	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	624	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCCTCAGGGTGGCTTGAAAAA	0.552000														22			15		3.35478e-16	7.73341e-15	0.000308642	1	0
TXK	7294	broad.mit.edu	37	4	48076056	48076056	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:48076056T>A	uc003gxx.4	-	12	1339	c.1253A>T	c.(1252-1254)gAt>gTt	p.D418V	TXK_uc010igj.3_Intron|TXK_uc011bzj.2_Missense_Mutation_p.D105V	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	418	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GACATACTCATCATCCAAAAC	0.368000														63			14		0	0	0.000422831	0	0
ITPR3	3710	broad.mit.edu	37	6	33644599	33644599	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr6:33644599G>A	uc021ywr.1	+	25	3561	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1113					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GATCAAGTCGGAGCTGGACCG	0.622000														43			14		0	0	0.000566183	0	0
FAM27L	284123	broad.mit.edu	37	17	21825491	21825491	+	RNA	SNP	G	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:21825491G>T	uc002gyz.3	+	0		c.122G>T								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cctgaaatgggccgactagga	0.652000														68			17		2.39187e-15	5.44304e-14	0.000132079	1	0
ZNF830	91603	broad.mit.edu	37	17	33289281	33289281	+	Silent	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr17:33289281T>C	uc002hih.4	+	0	733	c.696T>C	c.(694-696)caT>caC	p.H232H	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	232					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				CAGAAATACATGAAAAAGTGG	0.448000														41			16		0	0	0.000308642	0	0
ATG2B	55102	broad.mit.edu	37	14	96784101	96784101	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr14:96784101C>G	uc001yfi.3	-	18	3336	c.2971G>C	c.(2971-2973)Gcc>Ccc	p.A991P		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	991										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGCTGACTGGCTACTGAAAGC	0.343000														128			30		0	0	0.000184323	0	0
USH2A	7399	broad.mit.edu	37	1	216019211	216019211	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:216019211G>T	uc001hku.1	-	44	9397	c.9010C>A	c.(9010-9012)Cac>Aac	p.H3004N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3004	Fibronectin type-III 16.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGATGCTGTGGACTCCATTG	0.433000										HNSCC(13;0.011)				45			12		0.00010058	0.00207592	0.00010058	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204198070	204198070	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:204198070T>C	uc001hau.3	-	18	3063	c.2746A>G	c.(2746-2748)Aag>Gag	p.K916E		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	916										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCACCTCCTTATTGATGTCC	0.587000														107			38		0	0	0.000589545	0	0
TGOLN2	10618	broad.mit.edu	37	2	85549813	85549813	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr2:85549813A>T	uc021vjw.1	-	4	1749	c.1415T>A	c.(1414-1416)aTt>aAt	p.I472N	TGOLN2_uc002spb.3_3'UTR|TGOLN2_uc002soz.3_3'UTR|TGOLN2_uc021vjx.1_3'UTR|TGOLN2_uc002spa.3_Non-coding_Transcript	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	473						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										GAGCAGCACAATCCATTGGTG	0.378000														25			9		0	0	0.000442599	0	0
ZNF416	55659	broad.mit.edu	37	19	58084258	58084258	+	Silent	SNP	A	G	G			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr19:58084258A>G	uc002qpf.3	-	3	1185	c.1014T>C	c.(1012-1014)agT>agC	p.S338S		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TAAGGTTGGAACTTTGGCTAA	0.428000														47			14		0	0	0.000219431	0	0
RAD50	10111	broad.mit.edu	37	5	131976367	131976367	+	Silent	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:131976367T>C	uc003kxi.3	+	23	4023	c.3622T>C	c.(3622-3624)Tta>Cta	p.L1208L	RAD50_uc003kxh.3_Silent_p.L1069L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	1208	Ala/Asp-rich (DA-box).				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCCAGGTATTAGCCTCACT	0.498000								Homologous recombination						111			25		0	0	0.000586117	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983499	128983499	+	Silent	SNP	T	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:128983499T>C	uc003kvb.1	+	11	1896	c.1896T>C	c.(1894-1896)ccT>ccC	p.P632P	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	632	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCTCAGCACCTGAACATCTGG	0.502000														182			5		0	0	0.000157383	0	0
ELMO3	79767	broad.mit.edu	37	16	67233265	67233265	+	Silent	SNP	C	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr16:67233265C>A	uc002esa.3	+	0	238	c.195C>A	c.(193-195)atC>atA	p.I65I	ELMO3_uc002esb.3_Silent_p.I65I|ELMO3_uc002esc.3_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	12				N -> S (in Ref. 1; BAG62598).	apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGATTGCCATCAAGATGCGTG	0.682000														61			14		3.27435e-08	7.00238e-07	0.000219431	1	0
THRAP3	9967	broad.mit.edu	37	1	36767245	36767245	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr1:36767245delG	uc001cae.4	+	10	2818	c.2594delG	c.(2593-2595)cggfs	p.R865fs	THRAP3_uc001caf.4_Frame_Shift_Del_p.R865fs	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	865					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAAGAAACCGGGAAGAGGAG	0.478			T	USP6	aneurysmal bone cysts								---	57	---	---	21	---					
OGG1	4968	broad.mit.edu	37	3	9800959	9800960	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr3:9800959_9800960insT	uc003bsl.3	+	6	1380_1381	c.1037_1038insT	c.(1036-1038)tctfs	p.S346fs	OGG1_uc003bsk.3_3'UTR|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bst.3_Intron|CAMK1_uc003bss.3_Intron|AX748417_uc003bsv.1_5'Flank	NM_016828	NP_058437	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 2d, mRNA.	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ACTTCTTCCTCTAGACTTGGAG	0.460								Base excision repair (BER), DNA glycosylases					---	125	---	---	32	---					
NR3C2	4306	broad.mit.edu	37	4	149357285	149357285	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr4:149357285delT	uc003ilj.4	-	1	1091	c.728delA	c.(727-729)aatfs	p.N243fs	NR3C2_uc003ilk.4_Frame_Shift_Del_p.N243fs|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	243	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GGAGCCTCGATTTTCAACATT	0.527													---	103	---	---	46	---					
MAML1	9794	broad.mit.edu	37	5	179193559	179193560	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:179193559_179193560insC	uc003mkm.3	+	1	1811_1812	c.1548_1549insC	c.(1546-1551)aaacccfs	p.K516fs	MAML1_uc003mkn.1_Frame_Shift_Ins_p.K516fs	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	516					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAATACAAAACCCCTTTCTCA	0.559													---	62	---	---	19	---					
TBC1D9B	23061	broad.mit.edu	37	5	179318454	179318455	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr5:179318454_179318455insA	uc003mlh.3	-	5	1003_1004	c.968_969insT	c.(967-969)atgfs	p.M323fs	TBC1D9B_uc003mli.3_Frame_Shift_Ins_p.M323fs|TBC1D9B_uc003mlj.3_Frame_Shift_Ins_p.M323fs	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	323	GRAM 2.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAGATGAACATCTGGCCAGG	0.599													---	133	---	---	41	---					
KLHL7	55975	broad.mit.edu	37	7	23163475	23163476	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr7:23163475_23163476insT	uc003svs.4	+	1	493_494	c.200_201insT	c.(199-201)catfs	p.H67fs	KLHL7_uc003svr.4_Frame_Shift_Ins_p.H45fs|KLHL7_uc011jys.2_Intron|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_Frame_Shift_Ins_p.H19fs|KLHL7_uc003svp.3_Frame_Shift_Ins_p.H45fs|KLHL7_uc003svq.3_Frame_Shift_Ins_p.H67fs|KLHL7_uc011jyu.2_Frame_Shift_Ins_p.H45fs	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	67	BTB.					Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAGCCAGTCATTTTTTTAACT	0.332													---	64	---	---	30	---					
TMEM176B	28959	broad.mit.edu	37	7	150498449	150498450	+	Splice_Site	INS	-	G	G	rs5888418	by1000genomes	TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr7:150498449_150498450insG	uc003whw.4	-	1	1	c.-372_splice	c.e1-1		TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176A_uc003whx.1_Intron	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.						cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATGGTCAGCACCCCCTCTGCT	0.644													---	2	---	---	4	---					
MCPH1	79648	broad.mit.edu	37	8	6335132	6335133	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr8:6335132_6335133insA	uc003wqi.3	+	9	2029_2030	c.1953_1954insA	c.(1951-1956)gtcatgfs	p.V651fs		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	651	BRCT 2.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAACATTAGTCATGACAAGCAT	0.317													---	204	---	---	77	---					
GSN	2934	broad.mit.edu	37	9	124089637	124089638	+	Frame_Shift_Ins	INS	-	C	C			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr9:124089637_124089638insC	uc004blf.1	+	12	1853_1854	c.1792_1793insC	c.(1792-1794)accfs	p.T598fs	GSN_uc004bld.1_Frame_Shift_Ins_p.T547fs|GSN_uc010mvr.1_Frame_Shift_Ins_p.T558fs|GSN_uc010mvq.1_Frame_Shift_Ins_p.T558fs|GSN_uc010mvu.1_Frame_Shift_Ins_p.T547fs|GSN_uc010mvt.1_Frame_Shift_Ins_p.T547fs|GSN_uc010mvs.1_Frame_Shift_Ins_p.T547fs|GSN_uc004ble.1_Frame_Shift_Ins_p.T547fs|GSN_uc010mvv.1_Frame_Shift_Ins_p.T547fs|GSN_uc011lyh.1_Frame_Shift_Ins_p.T564fs|GSN_uc011lyi.1_Frame_Shift_Ins_p.T547fs|GSN_uc011lyj.1_Frame_Shift_Ins_p.T571fs|GSN_uc004blg.1_Frame_Shift_Ins_p.T329fs	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	598	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTTCTGAAAACCCCCTCAGCC	0.594													---	69	---	---	16	---					
DNAJC1	64215	broad.mit.edu	37	10	22171214	22171214	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr10:22171214delT	uc001irc.3	-	7	1262	c.975delA	c.(973-975)aaafs	p.K325fs		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	325	SANT 1.				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TATTTACCTGTTTTTTCTGTG	0.323													---	63	---	---	16	---					
PTCHD3	374308	broad.mit.edu	37	10	27687672	27687673	+	In_Frame_Ins	INS	-	GTATAT	GTATAT			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr10:27687672_27687673insGTATAT	uc001itu.2	-	3	1972_1973	c.1854_1855insATATAC	c.(1852-1857)insATATAC	p.618_619insIY		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	618					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGGAAACACCCATATATACTGC	0.361													---	96	---	---	13	---					
PHLDB1	23187	broad.mit.edu	37	11	118516164	118516164	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr11:118516164delA	uc001ptr.2	+	16	3565	c.3212delA	c.(3211-3213)cacfs	p.H1071fs	PHLDB1_uc001pts.3_Frame_Shift_Del_p.H1071fs|PHLDB1_uc001ptt.3_Frame_Shift_Del_p.H1024fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Frame_Shift_Del_p.H886fs|PHLDB1_uc001ptw.2_Frame_Shift_Del_p.H426fs|PHLDB1_uc009zai.2_Frame_Shift_Del_p.H107fs|PHLDB1_uc001ptx.2_Frame_Shift_Del_p.H107fs|PHLDB1_uc010ryi.1_Frame_Shift_Del_p.H214fs	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1071										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GATGCCCTTCACGGGGCAGCA	0.652													---	66	---	---	27	---					
H2AFJ	55766	broad.mit.edu	37	12	14927683	14927684	+	Frame_Shift_Ins	INS	-	T	T			TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr12:14927683_14927684insT	uc009zia.3	+	0	414_415	c.279_280insT	c.(277-282)gagttafs	p.E93fs	H2AFJ_uc001rch.4_Non-coding_Transcript	NM_177925	NP_808760	Q9BTM1	H2AJ_HUMAN	Homo sapiens H2A histone family, member J (H2AFJ), transcript variant 1, mRNA.	93					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E93D(2)		NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						ACGACGAGGAGTTAAACAAGCT	0.614													---	102	---	---	58	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	-	-	rs5811180		TCGA-BQ-7059-01A-11D-1961-08	TCGA-BQ-7059-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9beec2fe-169d-4c3d-b177-f0d7bd9e5e96	bdab2c62-1568-47e5-b8f6-99ada040a736	g.chr14:105996050_105996052delGCC	uc001yrp.1	+	1	1030_1032	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_In_Frame_Del_p.P299del|BC033241_uc001yrr.3_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	Homo sapiens transmembrane protein 121 (TMEM121), mRNA.	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													---	6	---	---	4	---					
