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
WDR16	146845	broad.mit.edu	37	17	9503430	9503430	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:9503430A>C	ENST00000352665.5	+	6	752	c.683A>C	c.(682-684)gAt>gCt	p.D228A	WDR16_ENST00000396219.3_Missense_Mutation_p.D160A|WDR16_ENST00000299764.5_Missense_Mutation_p.D238A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	228						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACGACTGGAGATATTCTAAAA	0.488000													143	200					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105178345	105178345	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:105178345A>G	ENST00000369797.3	+	15	2154	c.2060A>G	c.(2059-2061)gAc>gGc	p.D687G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	687	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGCAGGTGACATCCTTCAC	0.582000													53	70					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20769226	20769226	+	Silent	SNP	C	C	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:20769226C>A	ENST00000359062.3	+	4	1372	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	444	Poly-Thr.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGACCACCACCACCTCGGCCA	0.532000													4	126					0.217242	0.217242	1	1	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.470A>G	c.(469-471)cAt>cGt	p.H157R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132R					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													5	142					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508066	155508066	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:155508066T>C	ENST00000302053.3	-	5	593	c.515A>G	c.(514-516)gAc>gGc	p.D172G	FGA_ENST00000403106.3_Missense_Mutation_p.D172G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	172					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AATATCAATGTCCACCTAGAG	0.388000													31	62					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390748	208390748	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:208390748G>A	ENST00000367033.3	-	2	1277	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	174	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.R174C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCTCAGAGCGCACAATCACC	0.602000													6	311					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													4	78					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													5	62					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													5	111					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997008	19997008	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:19997008G>A	ENST00000391403.2	-	1	870	c.767C>T	c.(766-768)aCg>aTg	p.T256M		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	256						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCATCATCCGTTACATCTTC	0.373000													12	191					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	68					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													7	423					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153282062	153282062	+	Silent	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153282062G>A	ENST00000369980.3	-	9	1229	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000369974.2_Silent_p.P354P|IRAK1_ENST00000393682.1_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	354	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCAGCTTGGGTGTCAGCC	0.642000													24	42					0	0	1	0	0
DCBLD1	285761	broad.mit.edu	37	6	117861894	117861894	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:117861894G>A	ENST00000338728.5	+	10	1285	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	389	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCCCATCGTGGCCAGATATGT	0.473000													38	117					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3680945	3680945	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr11:3680945C>T	ENST00000250693.1	+	3	297	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	66					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGATCTCAACCACACGGAGTT	0.592000													11	37					0	0	1	0	0
MRPL50	54534	broad.mit.edu	37	9	104152867	104152867	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:104152867T>C	ENST00000374865.4	-	2	379	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	120						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ACCCTGCACATCTGGTGGAGT	0.423000													49	111					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073284	17073284	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:17073284G>A	ENST00000359963.3	-	1	416	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	53					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGCCGTGGGGGCCATAGCAA	0.642000													63	80					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								60	81					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			38	7					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38748793	38748793	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr3:38748793G>T	ENST00000449082.2	-	25	4362	c.4363C>A	c.(4363-4365)Cag>Aag	p.Q1455K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1455					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATGGGCTTCTGGGGCTTCTTG	0.557000													16	60					8.00594e-06	8.27733e-06	1	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													4	75					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757848	74757848	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:74757848G>A	ENST00000258080.3	+	2	1241	c.611G>A	c.(610-612)cGc>cAc	p.R204H	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	204	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCTGATCGGCGCAGAGTCCGT	0.602000													4	113					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318000													4	85					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129370584	129370584	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:129370584G>A	ENST00000370978.4	-	7	676	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	175	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTAGAAGGATGTTTCAACACA	0.308000													44	68					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154743663	154743663	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:154743663G>A	ENST00000607772.1	-	9	1466	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W|CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	308					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGCTTCCACCGTAGGTTTTTC	0.443000													5	177					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72383519	72383519	+	Silent	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr5:72383519A>G	ENST00000430046.2	+	25	2465	c.2349A>G	c.(2347-2349)gtA>gtG	p.V783V	FCHO2_ENST00000341845.6_Silent_p.V783V|FCHO2_ENST00000512348.1_Silent_p.V750V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	783										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TTTCAGGAGTAGATTTCGAAC	0.438000													43	124					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112777033	112777033	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:112777033C>T	ENST00000295408.4	+	16	2380	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	MERTK_ENST00000409780.1_Missense_Mutation_p.A532V|MERTK_ENST00000421804.2_Missense_Mutation_p.A708V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	708	Protein kinase.		A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation).		cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGATATTGCCCTGGGAATG	0.413000													5	285					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930686	42930686	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:42930686A>G	ENST00000244289.4	-	1	892	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	206					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTGTTAGAAATCCCAGCTCT	0.488000													50	64					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	88					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131353798	131353798	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:131353798C>T	ENST00000372739.3	+	22	3159	c.3049C>T	c.(3049-3051)Ccg>Tcg	p.P1017S	SPTAN1_ENST00000372731.4_Missense_Mutation_p.P1017S|SPTAN1_ENST00000358161.5_Missense_Mutation_p.P1017S	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3.		P -> S (in a breast cancer sample; somatic mutation).		actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.P1017S(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGTTTTGTGCCGGCTGCGTA	0.522000													5	231					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166307	21166307	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:21166307T>C	ENST00000380225.1	-	1	352	c.305A>G	c.(304-306)cAg>cGg	p.Q102R		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	102					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TAGGAGGCTCTGTTCCCAAGT	0.498000													46	180					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	772646	772646	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:772646G>T	ENST00000305108.4	-	1	299	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			GCACACAGCTGGCGGGACAGA	0.627000													21	127					5.26018e-13	5.62931e-13	1	1	0
PIH1D3	139212	broad.mit.edu	37	X	106459933	106459933	+	Silent	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:106459933T>C	ENST00000535523.1	+	4	523	c.186T>C	c.(184-186)ggT>ggC	p.G62G	PIH1D3_ENST00000372453.3_Silent_p.G62G|PIH1D3_ENST00000336387.4_Silent_p.G62G	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		GAGCCATGGGTCCTGGGAATA	0.333000													35	109					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47367798	47367798	+	Silent	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:47367798C>T	ENST00000285039.7	-	35	4937	c.4638G>A	c.(4636-4638)acG>acA	p.T1546T	MYO5B_ENST00000592688.1_Silent_p.T116T|MYO5B_ENST00000324581.6_Silent_p.T661T|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCAGAATGACGTCATCTCAA	0.522000													83	155					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102486	66102486	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:66102486G>A	ENST00000349533.6	+	20	3471	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	LEPR_ENST00000406510.3_Missense_Mutation_p.D163N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1096					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTTTTGACTGACAAGTCAAG	0.403000													4	111					0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42694963	42694963	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:42694963C>T	ENST00000398652.3	+	3	316	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.R45C			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	45					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CTATAGCATCCGCAGCATCGG	0.602000													36	74					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887	by1000genomes	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1																						GTTGAGCAGCGGCTGAAACCC	0.687000													4	31					0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205466	70205466	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:70205466A>T	ENST00000269503.4	-	5	1393	c.620T>A	c.(619-621)cTc>cAc	p.L207H	CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H|CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	207	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCCCCCCATGAGGTTGCCTCT	0.532000													93	107					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115898356	115898356	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:115898356C>G	ENST00000264363.2	-	3	1731	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	351	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGGTAAAACTTCCCTGAAA	0.343000													78	141					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100190781	100190781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:100190781C>T	ENST00000355295.4	+	2	329	c.34C>T	c.(34-36)Cga>Tga	p.R12*	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	12	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAGATGCTACGAGCTGTTCT	0.438000													32	61					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3692311	3692311	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:3692311G>A	ENST00000382622.3	+	8	1306	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	306					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.A306T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTACGTCCACGCCCTGGTCAC	0.498000													11	54					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153236222	153236222	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153236222C>A	ENST00000310441.7	-	1	1036	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	24					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGACCAGCCCACCACTCGC	0.682000													11	20					1.08611e-07	1.14229e-07	1	1	0
ERC1	23085	broad.mit.edu	37	12	1137520	1137520	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:1137520A>G	ENST00000397203.2	+	2	857	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000589028.1_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	151					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGATAACACAATCATGGATCT	0.458000													8	169					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227152916	227152916	+	Silent	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:227152916C>T	ENST00000366779.1	+	8	3164	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Silent_p.P131P|ADCK3_ENST00000366778.1_Silent_p.P79P			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	131					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCGGGTTCCCCGGCCAGGCCT	0.652000													16	26					0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000													3	6					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61482567	61482567	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:61482567G>A	ENST00000424789.2	+	18	3198	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1065							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCCAAACCGCCGAGGAGCA	0.617000													4	30					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428													8	155	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284886	38284887	+	RNA	DEL	GT	GT	-	rs73692143		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr7:38284886_38284887delGT	ENST00000436911.2	-	0	330																											ATTTGTCAAGgtgtgtgtgtgt	0.391													9	214	---	---	---	---					
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													5	7	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)ccgcct>cct	p.1447_1448PP>P	PCDH15_ENST00000320301.6_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			7	145	---	---	---	---					
LRRC75A-AS1	125144	broad.mit.edu	37	17	16344167	16344167	+	RNA	DEL	A	A	-	rs10587316		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:16344167delA	ENST00000475953.1	+	0	483				C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA	NR_027667.1																						actccatctcaaaaaaaaaaa	0.413													5	8	---	---	---	---					
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224393	10224395	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:10224393_10224395delTGG	ENST00000428358.1	+	13	1598_1600	c.1426_1428delTGG	c.(1426-1428)tggdel	p.W477del	P2RY11_ENST00000321826.4_In_Frame_Del_p.V37del|P2RY11_ENST00000471843.1_3'UTR|PPAN_ENST00000556468.1_In_Frame_Del_p.V457del|PPAN-P2RY11_ENST00000393796.4_In_Frame_Del_p.V457del	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGCCCATACTGGTGGTTGAGTT	0.631											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	84	---	---	---	---					
MIR3648-1	100500862	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs3052281		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:9825838_9825839insGCG	ENST00000581792.1	+	0	7_8					NR_037421.1																						cggccgcgactgcggcggcggt	0.842													4	2	---	---	---	---					
C21orf91	54149	broad.mit.edu	37	21	19190530	19190530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:19190530delA	ENST00000284881.4	-	2	196	c.106delT	c.(106-108)tgtfs	p.C36fs	C21orf91_ENST00000400558.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000493464.1_5'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	36										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGCTCAAAACAAATGTGGCAG	0.353													56	122	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													3	6	---	---	---	---					
