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
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													6	132					0	0	0.217242	0	0
ADH7	131	broad.mit.edu	37	4	100349726	100349726	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:100349726T>A	ENST00000437033.2	-	3	685	c.182A>T	c.(181-183)aAg>aTg	p.K61M	ADH7_ENST00000482593.1_Missense_Mutation_p.K4M|ADH7_ENST00000476959.1_Missense_Mutation_p.K81M|ADH7_ENST00000209665.4_Missense_Mutation_p.K73M			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	73					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACTGGAAACTTGGACACCAT	0.438000													32	79					0	0	0.819951	0	0
CMYA5	202333	broad.mit.edu	37	5	79032476	79032476	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:79032476G>A	ENST00000446378.2	+	2	7919	c.7888G>A	c.(7888-7890)Gag>Aag	p.E2630K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2630						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTTTTGGTGGAGAAAACCAA	0.428000													10	39					0	0	0.411799	0	0
SPTBN4	57731	broad.mit.edu	37	19	41078018	41078018	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:41078018G>A	ENST00000352632.3	+	34	7499	c.7413G>A	c.(7411-7413)ggG>ggA	p.G2471G	SPTBN4_ENST00000392025.1_Silent_p.G1214G|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000598249.1_Silent_p.G2471G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2471	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACACGGTGGGGAACCGCTGC	0.597000													4	246					0	0	0.150653	0	0
CSMD3	114788	broad.mit.edu	37	8	113529334	113529334	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:113529334C>G	ENST00000297405.5	-	28	4929	c.4685G>C	c.(4684-4686)gGa>gCa	p.G1562A	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1522A|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1458A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1562A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1562	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTTCCTCTCCTTGAAGTTC	0.448000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	92					0	0	0.760397	0	0
TIMD4	91937	broad.mit.edu	37	5	156381695	156381695	+	Missense_Mutation	SNP	G	G	A	rs115724540	byFrequency	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:156381695G>A	ENST00000274532.2	-	2	187	c.131C>T	c.(130-132)tCc>tTc	p.S44F	TIMD4_ENST00000407087.3_Missense_Mutation_p.S44F	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	44	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGAGACCAGGATGAGTACAG	0.542000													45	42					0	0	0.870114	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	14					0	0	0.248553	0	0
CHODL	140578	broad.mit.edu	37	21	19635164	19635164	+	Missense_Mutation	SNP	A	A	T	rs142087135	byFrequency	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr21:19635164A>T	ENST00000299295.2	+	5	1082	c.691A>T	c.(691-693)Ata>Tta	p.I231L	CHODL_ENST00000400127.1_Missense_Mutation_p.I190L|CHODL_ENST00000400131.1_Intron|CHODL_ENST00000338326.3_Intron|CHODL_ENST00000400128.1_Missense_Mutation_p.I190L|CHODL_ENST00000400135.1_Intron|CHODL_ENST00000543733.1_Missense_Mutation_p.I212L	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	231					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GCTCTTACTGATACTGGTTGC	0.323000													29	68					0	0	0.840704	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447026	74447026	+	Silent	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:74447026G>T	ENST00000339953.5	-	5	706	c.585C>A	c.(583-585)atC>atA	p.I195I		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	195						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TATAGGGGATGATTGTCTTCC	0.622000													18	204					3.8784e-16	4.66723e-16	0.608945	1	0
TEK	7010	broad.mit.edu	37	9	27206675	27206675	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr9:27206675C>T	ENST00000380036.4	+	15	2902	c.2460C>T	c.(2458-2460)gaC>gaT	p.D820D	TEK_ENST00000406359.4_Silent_p.D777D|TEK_ENST00000519097.1_Silent_p.D672D	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	820					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CAGTGCTTGACTGGAATGACA	0.478000													12	44					0	0	0.457914	0	0
MYOZ1	58529	broad.mit.edu	37	10	75394358	75394358	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr10:75394358G>A	ENST00000359322.4	-	4	750	c.386C>T	c.(385-387)tCt>tTt	p.S129F		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	129	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CTGCTGATCAGAGCCATACTG	0.657000													4	131					0	0	0.248553	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647000													6	255					0	0	0.361761	0	0
CTAG2	30848	broad.mit.edu	37	X	153880704	153880704	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:153880704G>A	ENST00000247306.4	-	2	534	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	157						centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGGGGAGGCGGATCCCAGCC	0.622000													5	220					0	0	0.184627	0	0
PLXNA3	55558	broad.mit.edu	37	X	153688986	153688986	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:153688986A>G	ENST00000369682.3	+	2	638	c.463A>G	c.(463-465)Att>Gtt	p.I155V		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	155	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGGTGTCATTGTGGAGCA	0.637000													34	177					0	0	0.788014	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													5	44					0	0	0.278610	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777892	31777892	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:31777892G>C	ENST00000375654.4	-	2	2047	c.1858C>G	c.(1858-1860)Cct>Gct	p.P620A	HSPA1L_ENST00000417199.3_Missense_Mutation_p.P620A	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	620					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCGCAGGCAGGCCCAGTGCAT	0.468000													15	87					0	0	0.500413	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													8	204					0	0	0.307466	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													6	113					0	0	0.278610	0	0
OR51M1	390059	broad.mit.edu	37	11	5411106	5411106	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:5411106G>A	ENST00000328611.3	+	1	500	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	160						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCTAATTGTCATCTTCCG	0.542000													51	136					0	0	0.870114	0	0
FGGY	55277	broad.mit.edu	37	1	60107002	60107002	+	Silent	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:60107002C>A	ENST00000371218.4	+	12	1456	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371210.1_Intron|FGGY_ENST00000303721.7_Intron|FGGY_ENST00000474476.1_Intron	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	407					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGCACTCTCCCAGTTCTCTAC	0.393000													4	38					0.184627	0.187265	0.184627	1	0
KCNH2	3757	broad.mit.edu	37	7	150648643	150648643	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:150648643G>A	ENST00000392968.2	-	5	2670	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	KCNH2_ENST00000262186.5_Missense_Mutation_p.T613M|KCNH2_ENST00000430723.3_Missense_Mutation_p.T613M|KCNH2_ENST00000330883.4_Missense_Mutation_p.T273M			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	613					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTAGAGCGCCGTCACATACTT	0.587000													22	67					0	0	0.667858	0	0
PWP1	11137	broad.mit.edu	37	12	108098446	108098446	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:108098446T>A	ENST00000412830.3	+	11	1167	c.999T>A	c.(997-999)gaT>gaA	p.D333E	PWP1_ENST00000541166.1_Missense_Mutation_p.D271E	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	333					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGTCCAGATGAAAGCCATC	0.398000													27	71					0	0	0.760397	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540344	169540344	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:169540344G>T	ENST00000340806.6	+	1	635	c.635G>T	c.(634-636)gGg>gTg	p.G212V		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	212										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CACCTGACGGGGCTGCAGAAG	0.527000													21	120					3.5997e-14	4.22444e-14	0.624587	1	0
POTEE	445582	broad.mit.edu	37	2	131976198	131976198	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:131976198A>G	ENST00000356920.5	+	1	317	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S75G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	75							ATP binding										CTGCAGGGGGAGTGGCAAGAG	0.587000													3	160					0	0	0.150653	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													5	77					0	0	0.184627	0	0
TXNRD2	10587	broad.mit.edu	37	22	19918614	19918614	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr22:19918614C>G	ENST00000400519.1	-	2	107	c.108G>C	c.(106-108)caG>caC	p.Q36H	TXNRD2_ENST00000400521.1_Missense_Mutation_p.Q37H|TXNRD2_ENST00000542719.1_Missense_Mutation_p.Q7H|TXNRD2_ENST00000400518.1_Missense_Mutation_p.Q7H|TXNRD2_ENST00000400525.1_Intron|TXNRD2_ENST00000334363.9_Missense_Mutation_p.Q37H|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000535882.1_Missense_Mutation_p.Q36H			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	37					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CATAGTCCCGCTGACCTGCTG	0.532000													16	153					0	0	0.575678	0	0
CNTN5	53942	broad.mit.edu	37	11	99690276	99690276	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:99690276G>A	ENST00000524871.1	+	4	347	c.55_splice	c.e4-1	p.E19_splice	CNTN5_ENST00000527185.1_Splice_Site_p.E19_splice|CNTN5_ENST00000279463.3_Splice_Site_p.E19_splice|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Splice_Site_p.E19_splice	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	19					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTCTTACAGAGTATTCAAAAT	0.308000													8	47					0	0	0.387290	0	0
FAM129C	199786	broad.mit.edu	37	19	17660382	17660382	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:17660382G>T	ENST00000595684.1	+	15	2027	c.1889G>T	c.(1888-1890)gGg>gTg	p.G630V	FAM129C_ENST00000332386.5_Intron|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000335393.4_Intron|FAM129C_ENST00000352727.3_Intron|FAM129C_ENST00000599124.1_Intron|FAM129C_ENST00000599164.1_Intron			Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	0										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GATTGCTGGGGGTGGGGAGGT	0.577000													8	28					0.000157383	0.000168033	0.278610	1	0
ATOH1	474	broad.mit.edu	37	4	94750467	94750467	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:94750467G>C	ENST00000306011.3	+	1	426	c.390G>C	c.(388-390)aaG>aaC	p.K130N		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	130					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGCTGTGCAAGCTGAAAGGCG	0.667000													15	15					0	0	0.575678	0	0
OTP	23440	broad.mit.edu	37	5	76932909	76932909	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:76932909C>T	ENST00000306422.3	-	2	1322	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	62						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GTGGTGATGTCCTCCCCGGGC	0.731000													7	9					0	0	0.335167	0	0
RYR2	6262	broad.mit.edu	37	1	237540689	237540689	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:237540689T>C	ENST00000366574.2	+	8	847	c.530T>C	c.(529-531)gTt>gCt	p.V177A	RYR2_ENST00000542537.1_Missense_Mutation_p.V161A|RYR2_ENST00000360064.6_Missense_Mutation_p.V175A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	177	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGTACGAGTTGGAGATGAC	0.438000													15	81					0	0	0.575678	0	0
SI	6476	broad.mit.edu	37	3	164786518	164786518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:164786518G>A	ENST00000264382.3	-	5	537	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	159	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.R159G(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACCTTGAACCGGAAACGATTG	0.423000										HNSCC(35;0.089)			19	73					0	0	0.592651	0	0
USH1C	10083	broad.mit.edu	37	11	17548358	17548358	+	Splice_Site	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:17548358C>G	ENST00000005226.7	-	7	521		c.e7-1		USH1C_ENST00000318024.4_Splice_Site|USH1C_ENST00000527020.1_Splice_Site|USH1C_ENST00000527720.1_Splice_Site	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATCAGGAGAGCTGATGGGAAG	0.557000													13	27					0	0	0.435327	0	0
PREX2	80243	broad.mit.edu	37	8	69103986	69103986	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:69103986C>G	ENST00000288368.4	+	36	4653	c.4376C>G	c.(4375-4377)cCa>cGa	p.P1459R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1459					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCAAATTCACCACCAAACTCC	0.308000													13	77					0	0	0.575678	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	6					0	0	0.827153	0	0
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612000			Mis		uveal melanoma								18	67					0	0	0.624587	0	0
PXDNL	137902	broad.mit.edu	37	8	52232505	52232505	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:52232505G>A	ENST00000356297.4	-	23	4438	c.4338C>T	c.(4336-4338)tgC>tgT	p.C1446C	RP11-401H2.1_ENST00000521294.1_RNA|PXDNL_ENST00000543296.1_3'UTR	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1446	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAACTGGACAGCAGGTTCCTT	0.512000													3	44					0	0	0.150653	0	0
NISCH	11188	broad.mit.edu	37	3	52514200	52514200	+	Splice_Site	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:52514200G>A	ENST00000345716.4	+	13	1551	c.1416_splice	c.e13-1	p.G473_splice	NISCH_ENST00000479054.1_Splice_Site_p.G473_splice|NISCH_ENST00000488380.1_Splice_Site_p.G473_splice|NISCH_ENST00000420808.2_Splice_Site_p.G473_splice	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	473	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCGTCCTCAGGGTGGTGAAGA	0.657000													29	109					0	0	0.729181	0	0
POU6F2	11281	broad.mit.edu	37	7	39500186	39500186	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:39500186G>A	ENST00000518318.2	+	9	1485	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	POU6F2_ENST00000559001.1_Silent_p.L426L|POU6F2_ENST00000403058.1_Silent_p.L481L			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	481	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L481L(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGTTAATCTGGAGGAGATCC	0.512000													8	9					0	0	0.435327	0	0
WAS	7454	broad.mit.edu	37	X	48547271	48547271	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:48547271C>T	ENST00000376701.4	+	10	1229	c.1154C>T	c.(1153-1155)cCc>cTc	p.P385L		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	385	Poly-Pro.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCCCTCCACCCCCTGGAGCT	0.741000			"""Mis, N, F, S"""			lymphoma							3	7					0	0	0.115264	0	0
ITGB5	3693	broad.mit.edu	37	3	124492548	124492548	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:124492548G>A	ENST00000296181.4	-	11	2201	c.1905C>T	c.(1903-1905)tgC>tgT	p.C635C		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	635					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCTTGGTGCTGCATGCATCCG	0.657000													13	66					0	0	0.520397	0	0
LRP1B	53353	broad.mit.edu	37	2	141751586	141751586	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:141751586G>A	ENST00000389484.3	-	16	3593	c.2622C>T	c.(2620-2622)agC>agT	p.S874S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	874	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S874S(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCCTCATCGCTTCCGTCTA	0.428000										TSP Lung(27;0.18)			18	40					0	0	0.575678	0	0
PASD1	139135	broad.mit.edu	37	X	150773187	150773187	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:150773187T>A	ENST00000370357.4	+	3	343	c.98T>A	c.(97-99)tTc>tAc	p.F33Y		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	33	PAS.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TATGATTACTTCAACCAAGTG	0.333000													4	92					0	0	0.184627	0	0
HTR3B	9177	broad.mit.edu	37	11	113813867	113813867	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:113813867A>C	ENST00000260191.2	+	7	1117	c.860A>C	c.(859-861)aAc>aCc	p.N287T	HTR3B_ENST00000537778.1_Missense_Mutation_p.N276T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	287					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TTCAGGGTCAACATGTCCAAC	0.572000													9	32					0	0	0.361761	0	0
CCDC180	100499483	broad.mit.edu	37	9	100124130	100124130	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr9:100124130G>A	ENST00000375202.2	+	41	5090	c.3738G>A	c.(3736-3738)ggG>ggA	p.G1246G	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Silent_p.G1246G|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Silent_p.G1217G					coiled-coil domain containing 180																		GCCGCGTGGGGAAGCCCCTGA	0.617000													11	38					0	0	0.435327	0	0
ANK1	286	broad.mit.edu	37	8	41525969	41525969	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:41525969G>A	ENST00000396942.1	-	39	5293	c.5210C>T	c.(5209-5211)aCc>aTc	p.T1737I	ANK1_ENST00000265709.8_Missense_Mutation_p.T1778I|ANK1_ENST00000289734.7_Missense_Mutation_p.T1737I|ANK1_ENST00000396945.1_Missense_Mutation_p.T1737I|ANK1_ENST00000352337.4_Missense_Mutation_p.T1737I|ANK1_ENST00000379758.2_Missense_Mutation_p.T1737I|ANK1_ENST00000347528.4_Missense_Mutation_p.T1737I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1737	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCAGTCATGGTACTTGTTCC	0.557000													25	66					0	0	0.717897	0	0
TGM4	7047	broad.mit.edu	37	3	44948523	44948523	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:44948523C>T	ENST00000296125.4	+	10	1226	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	386					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCGTCTTCTCAGAAGTGA	0.507000													24	47					0	0	0.667858	0	0
BAI3	577	broad.mit.edu	37	6	69646417	69646417	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:69646417C>A	ENST00000370598.1	+	5	1696	c.875C>A	c.(874-876)tCt>tAt	p.S292Y		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	292	TSP type-1 1.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGGTGAATCTGGTGTGGAA	0.433000													13	51					3.45872e-05	3.83701e-05	0.500413	1	0
DEPDC4	120863	broad.mit.edu	37	12	100660735	100660735	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:100660735C>G	ENST00000416321.1	-	1	122	c.120G>C	c.(118-120)agG>agC	p.R40S		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	40					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						CTCTACGGTTCCTGGAACTTG	0.582000													33	90					0	0	0.819951	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677020	36677020	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:36677020C>G	ENST00000265113.4	+	6	1070	c.594C>G	c.(592-594)agC>agG	p.S198R	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.S198R	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	198					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGAAGAGAAGCTTTAAAGTGC	0.378000													3	12					0	0	0.115264	0	0
DCST2	127579	broad.mit.edu	37	1	155001826	155001826	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:155001826T>C	ENST00000368424.3	-	8	1283	c.1225A>G	c.(1225-1227)Acc>Gcc	p.T409A	DCST2_ENST00000295536.5_Missense_Mutation_p.T409A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	409						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGTTGAAGGTCTCCAGAATG	0.552000													3	90					0	0	0.184627	0	0
SND1	27044	broad.mit.edu	37	7	127343357	127343357	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:127343357C>G	ENST00000354725.3	+	7	1014	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	274	TNase-like 2.			L -> V (in Ref. 1; AAA80488).	gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAGAACATTCTGGGTACCAT	0.488000													19	77					0	0	0.667858	0	0
THBS4	7060	broad.mit.edu	37	5	79372739	79372739	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:79372739C>A	ENST00000350881.2	+	16	2144	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.L561M|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	652					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGTGCCCAGCTGGACACCGA	0.547000													10	219					0.0809354	0.0832813	0.387290	1	0
PLCB4	5332	broad.mit.edu	37	20	9424678	9424678	+	Splice_Site	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr20:9424678G>T	ENST00000378501.2	+	27	2793		c.e27+1		PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCAGATGAAGGTAAAATTGCT	0.303000													8	68					0.00621372	0.00644049	0.335167	1	0
OR2W1	26692	broad.mit.edu	37	6	29012357	29012357	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:29012357A>G	ENST00000377175.1	-	1	660	c.596T>C	c.(595-597)gTt>gCt	p.V199A		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TAAAGCGAAAACAGACATTTC	0.418000													28	139					0	0	0.706142	0	0
PTCD2	79810	broad.mit.edu	37	5	71616252	71616252	+	Silent	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:71616252C>A	ENST00000380639.5	+	1	59	c.43C>A	c.(43-45)Cga>Aga	p.R15R	PTCD2_ENST00000543322.1_Silent_p.R15R|PTCD2_ENST00000503868.1_Silent_p.R15R|PTCD2_ENST00000536805.1_5'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	15										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627000													15	40					0.00074312	0.000781652	0.539581	1	0
KLC2	64837	broad.mit.edu	37	11	66029609	66029609	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:66029609G>A	ENST00000394065.2	+	2	1076	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	KLC2_ENST00000394078.1_Missense_Mutation_p.V159I|KLC2_ENST00000394067.2_Missense_Mutation_p.V159I|KLC2_ENST00000417856.1_Missense_Mutation_p.V159I|KLC2_ENST00000421552.1_Missense_Mutation_p.V82I|KLC2_ENST00000316924.5_Missense_Mutation_p.V159I|KLC2_ENST00000394066.2_Missense_Mutation_p.V82I			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	159					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAGGGGGACGTCCCCAAAGA	0.602000													12	54					0	0	0.479597	0	0
MSLNL	401827	broad.mit.edu	37	16	832011	832011	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:832011C>T	ENST00000293892.3	-	2	111	c.112G>A	c.(112-114)Gac>Aac	p.D38N	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GCTGAGACGTCCCAGGGCAGG	0.662000													9	5					0	0	0.361761	0	0
LOC440040	440040	broad.mit.edu	37	11	49831847	49831847	+	RNA	SNP	A	A	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:49831847A>G	ENST00000527477.1	+	0	2072																											TTTATCCCATAAAGCCCTCTT	0.383000													30	59					0	0	0.717897	0	0
CSMD1	64478	broad.mit.edu	37	8	2824193	2824193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:2824193G>T	ENST00000602557.1	-	59	9557	c.9002C>A	c.(9001-9003)tCg>tAg	p.S3001*	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.S3000*|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.S3001*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3001	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAGATGACCGAGCTGGAGAA	0.562000													18	73					2.44723e-14	2.89589e-14	0.681144	1	0
TRRAP	8295	broad.mit.edu	37	7	98558887	98558887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98558887C>T	ENST00000359863.4	+	45	6681	c.6472C>T	c.(6472-6474)Cag>Tag	p.Q2158*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.Q2139*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.Q2140*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2158	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGCAGGAGCAGCCAAACCA	0.473000													23	130					0	0	0.788014	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050152	120050152	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:120050152G>A	ENST00000235547.6	+	2	198	c.59G>A	c.(58-60)aGg>aAg	p.R20K	HSD3B1_ENST00000528909.1_Missense_Mutation_p.R18K|HSD3B1_ENST00000369413.3_Missense_Mutation_p.R18K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	18					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTGGGACAGAGGATCATCCGC	0.517000													51	72					0	0	0.870114	0	0
DAB1	1600	broad.mit.edu	37	1	57499231	57499231	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:57499231C>G	ENST00000420954.2	-	7	669	c.634G>C	c.(634-636)Gag>Cag	p.E212Q	DAB1_ENST00000371234.4_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.E247Q|DAB1_ENST00000439789.2_Missense_Mutation_p.E128Q|DAB1_ENST00000414851.2_Missense_Mutation_p.E212Q|DAB1_ENST00000485760.1_Intron|DAB1_ENST00000371236.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	247					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCAAAATCCTCAAACGAATAG	0.398000													9	26					0	0	0.361761	0	0
CEP57	9702	broad.mit.edu	37	11	95546701	95546701	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:95546701G>A	ENST00000325542.5	+	4	690	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	CEP57_ENST00000537677.1_Missense_Mutation_p.R124Q|CEP57_ENST00000541150.1_Missense_Mutation_p.R142Q|CEP57_ENST00000538658.1_Missense_Mutation_p.R151Q|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.R151Q	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	151	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAATACATGCGAAATATGATA	0.343000									Mosaic Variegated Aneuploidy Syndrome				5	39					0	0	0.217242	0	0
RPS6KB1	6198	broad.mit.edu	37	17	58024091	58024091	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:58024091A>G	ENST00000225577.4	+	15	1541	c.1520A>G	c.(1519-1521)aAa>aGa	p.K507R	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.K484R|RPS6KB1_ENST00000406116.3_Intron|RP11-178C3.1_ENST00000591035.1_Intron|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.K454R	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	507	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			GGGCCATACAAAAAACAAGCT	0.458000													25	52					0	0	0.729181	0	0
SLC1A3	6507	broad.mit.edu	37	5	36679892	36679892	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:36679892C>T	ENST00000265113.4	+	7	1500	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R342W	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	342					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R342W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CTTGGTAACACGGAAAAACCC	0.488000													28	46					0	0	0.717897	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295916	120295916	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:120295916C>T	ENST00000369406.3	-	7	1330	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q	HMGCS2_ENST00000544913.2_Silent_p.Q385Q	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	427					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GAGCAGCATCCTGGGATACTC	0.498000													4	46					0	0	0.184627	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200441	174200441	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:174200441T>C	ENST00000251507.4	+	4	664	c.490T>C	c.(490-492)Tac>Cac	p.Y164H	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.Y127H|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	164	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TTCCAGTCAATACCCCTTTCC	0.388000													40	239					0	0	0.870114	0	0
HHLA2	11148	broad.mit.edu	37	3	108072520	108072520	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:108072520C>T	ENST00000357759.5	+	4	725	c.311C>T	c.(310-312)gCg>gTg	p.A104V	HHLA2_ENST00000467761.1_Missense_Mutation_p.A104V|HHLA2_ENST00000491820.1_Missense_Mutation_p.A104V|HHLA2_ENST00000489514.2_Missense_Mutation_p.A104V|HHLA2_ENST00000467562.1_Intron	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	104	Ig-like V-type 1.					integral to membrane		p.A104V(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AATGGGAATGCGTCGCTATTT	0.403000													8	33					0	0	0.278610	0	0
EIF4G2	1982	broad.mit.edu	37	11	10828824	10828824	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:10828824C>G	ENST00000526148.1	-	2	529	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	EIF4G2_ENST00000396525.2_Missense_Mutation_p.E7Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.E7Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.E7Q|EIF4G2_ENST00000525995.1_Intron	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	7					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GCACCCCCTTCTGCAATCGCA	0.433000													98	63					0	0	0.870114	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961290	51961290	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:51961290C>A	ENST00000321424.3	-	1	418	c.352G>T	c.(352-354)Gat>Tat	p.D118Y	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.D118Y|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.D118Y	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	118	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACCCCTTATCCCTCTTCCTG	0.488000													8	158					6.40141e-05	6.93893e-05	0.387290	1	0
OR1A2	26189	broad.mit.edu	37	17	3101369	3101369	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:3101369A>T	ENST00000381951.1	+	1	557	c.557A>T	c.(556-558)aAg>aTg	p.K186M		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CCTTTGCTGAAGTTGTCCTGT	0.463000													32	64					0	0	0.769981	0	0
TEKT5	146279	broad.mit.edu	37	16	10788486	10788486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:10788486C>T	ENST00000283025.2	-	1	316	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	82					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GAGTGCGGAGCGCAGTGTGGG	0.667000													25	46					0	0	0.693898	0	0
IFITM1	8519	broad.mit.edu	37	11	314246	314246	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:314246A>C	ENST00000408968.3	+	1	394	c.76A>C	c.(76-78)Aac>Cac	p.N26H	IFITM1_ENST00000328221.5_Missense_Mutation_p.N26H|IFITM1_ENST00000528780.1_Missense_Mutation_p.N26H	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	26					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCGTGATCAACATCCACAG	0.572000													4	90					0	0	0.248553	0	0
NFATC2	4773	broad.mit.edu	37	20	50049132	50049132	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr20:50049132G>A	ENST00000371564.3	-	9	2413	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	NFATC2_ENST00000396009.3_Missense_Mutation_p.R732C|NFATC2_ENST00000414705.1_Missense_Mutation_p.R712C	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	732					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGCCCCGTGCGGAACTGCTGG	0.682000													3	22					0	0	0.115264	0	0
PAIP1	10605	broad.mit.edu	37	5	43556095	43556095	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:43556095G>C	ENST00000306846.3	-	2	504	c.272C>G	c.(271-273)aCg>aGg	p.T91R	PAIP1_ENST00000338972.4_5'UTR|PAIP1_ENST00000514514.1_Missense_Mutation_p.T12R|PAIP1_ENST00000436644.2_Missense_Mutation_p.T12R	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	91	Pro-rich.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CAGGGGCCTCGTTTGCTCTGC	0.458000													28	100					0	0	0.740014	0	0
ELK3	2004	broad.mit.edu	37	12	96617393	96617393	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:96617393G>A	ENST00000228741.3	+	2	375	c.49G>A	c.(49-51)Gat>Aat	p.D17N	RP11-394J1.2_ENST00000551844.1_RNA|ELK3_ENST00000552142.1_Missense_Mutation_p.D17N	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	17					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GTTGCTGCTGGATCAGAAACA	0.532000													18	72					0	0	0.557998	0	0
TRRAP	8295	broad.mit.edu	37	7	98558973	98558973	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98558973C>T	ENST00000359863.4	+	45	6767	c.6558C>T	c.(6556-6558)atC>atT	p.I2186I	TRRAP_ENST00000446306.3_Silent_p.I2167I|TRRAP_ENST00000355540.3_Silent_p.I2168I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2186	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCAGCCATCCTCAGTAGCT	0.557000													24	102					0	0	0.654019	0	0
DARC	2532	broad.mit.edu	37	1	159175360	159175360	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:159175360A>T	ENST00000537147.1	+	3	974	c.131A>T	c.(130-132)aAc>aTc	p.N44I	DARC_ENST00000368122.2_Missense_Mutation_p.N44I|DARC_ENST00000368121.2_Missense_Mutation_p.N46I			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	44					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TATGGTGCCAACCTGGAAGCA	0.527000													15	76					0	0	0.479597	0	0
KMT2A	4297	broad.mit.edu	37	11	118373881	118373881	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:118373881C>T	ENST00000534358.1	+	27	7297	c.7274C>T	c.(7273-7275)tCc>tTc	p.S2425F	KMT2A_ENST00000389506.5_Missense_Mutation_p.S2422F|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2384F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GGATCTAGTTCCAGAGATAGG	0.393000													6	26					0	0	0.217242	0	0
PDSS1	23590	broad.mit.edu	37	10	27009216	27009216	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr10:27009216C>T	ENST00000376215.5	+	6	590	c.537C>T	c.(535-537)caC>caT	p.H179H	PDSS1_ENST00000376203.5_Silent_p.H179H	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	179					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GTCTGGTTCACGATGACGTTA	0.398000													26	30					0	0	0.717897	0	0
FANK1	92565	broad.mit.edu	37	10	127686010	127686010	+	Silent	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr10:127686010T>C	ENST00000368695.1	+	6	599	c.477T>C	c.(475-477)tcT>tcC	p.S159S	FANK1_ENST00000368693.1_Silent_p.S165S	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	165						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCCTAGTTTCTAATGGCACAG	0.408000													13	98					0	0	0.479597	0	0
TRRAP	8295	broad.mit.edu	37	7	98543392	98543392	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98543392G>C	ENST00000359863.4	+	32	4705	c.4496G>C	c.(4495-4497)aGa>aCa	p.R1499T	TRRAP_ENST00000446306.3_Intron|TRRAP_ENST00000355540.3_Intron	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1499					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGTGCGGGAGATGTCCCTTG	0.373000													20	73					0	0	0.717897	0	0
SPIDR	23514	broad.mit.edu	37	8	48626202	48626202	+	Splice_Site	SNP	A	A	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:48626202A>T	ENST00000297423.4	+	16	2724	c.2341_splice	c.e16+1	p.Q780_splice	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Splice_Site_p.Q710_splice|SPIDR_ENST00000518074.1_Splice_Site_p.Q720_splice|SPIDR_ENST00000517693.1_Splice_Site_p.Q255_splice	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GCAGTGTTCAAGGTAGGCAGC	0.463000													9	66					0	0	0.335167	0	0
ATRX	546	broad.mit.edu	37	X	76931728	76931728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:76931728C>A	ENST00000373344.5	-	10	4016	c.3802G>T	c.(3802-3804)Gag>Tag	p.E1268*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1230*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1268					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACCTATTCTCAGGATCATTG	0.398000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						22	52					1.77063e-15	2.11285e-15	0.693898	1	0
CROT	54677	broad.mit.edu	37	7	87011494	87011494	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:87011494G>T	ENST00000331536.3	+	12	1352	c.1167G>T	c.(1165-1167)agG>agT	p.R389S	CROT_ENST00000419147.2_Missense_Mutation_p.R417S|CROT_ENST00000442291.1_Missense_Mutation_p.R389S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	389					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.R389R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AGTATCTCAGGGAGGTATATT	0.343000													7	31					5.18039e-06	5.79225e-06	0.278610	1	0
ZAN	7455	broad.mit.edu	37	7	100361701	100361701	+	RNA	SNP	T	T	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:100361701T>G	ENST00000542585.1	+	0	4297				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCATGCTTGATATGTGCG	0.607000													23	52					0	0	0.693898	0	0
CHTF8	54921	broad.mit.edu	37	16	69155019	69155019	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:69155019G>A	ENST00000448552.2	-	3	199	c.78C>T	c.(76-78)atC>atT	p.I26I	CHTF8_ENST00000398235.2_Silent_p.I26I|CHTF8_ENST00000523421.1_Silent_p.I26I|CHTF8_ENST00000522091.1_Silent_p.I26I|CHTF8_ENST00000520529.1_Intron|CHTF8_ENST00000519520.1_Intron|CHTF8_ENST00000518041.1_Silent_p.I26I|CHTF8_ENST00000306585.6_5'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	26					cell cycle|DNA replication	nucleus	DNA binding										AGCGAGCCTCGATCTCCCCCT	0.562000													4	200					0	0	0.184627	0	0
DDX23	9416	broad.mit.edu	37	12	49230029	49230029	+	Silent	SNP	A	A	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:49230029A>G	ENST00000308025.3	-	11	1336	c.1257T>C	c.(1255-1257)cgT>cgC	p.R419R		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	419						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GAATTGCCTGACGCTGTATAG	0.512000													4	194					0	0	0.217242	0	0
GNA11	2767	broad.mit.edu	37	19	3118943	3118943	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:3118943G>T	ENST00000078429.4	+	5	869	c.627G>T	c.(625-627)caG>caT	p.Q209H	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TGGGGGGCCAGCGGTCGGAGC	0.612000			Mis		uveal melanoma								18	68					1.22574e-08	1.39244e-08	0.624587	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399458	89399458	+	RNA	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:89399458G>A	ENST00000479981.1	-	0	271																											GCTGAACTTTGATGGGACCCC	0.473000													58	119					0	0	0.870114	0	0
TRRAP	8295	broad.mit.edu	37	7	98557030	98557030	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98557030C>T	ENST00000359863.4	+	44	6594	c.6385C>T	c.(6385-6387)Ctt>Ttt	p.L2129F	TRRAP_ENST00000446306.3_Missense_Mutation_p.L2110F|TRRAP_ENST00000355540.3_Missense_Mutation_p.L2111F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2129	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTGTGAACCTTCTGAAGAC	0.562000													23	56					0	0	0.681144	0	0
CXorf66	347487	broad.mit.edu	37	X	139038312	139038312	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:139038312T>C	ENST00000370540.1	-	3	852	c.829A>G	c.(829-831)Aaa>Gaa	p.K277E		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	277						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTATAAGTTTTGGCAACAAGA	0.398000													31	33					0	0	0.779181	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553006	50553006	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr22:50553006C>G	ENST00000262794.5	+	7	1164	c.1081C>G	c.(1081-1083)Cag>Gag	p.Q361E	MOV10L1_ENST00000545383.1_Missense_Mutation_p.Q361E|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.Q361E|MOV10L1_ENST00000540615.1_Missense_Mutation_p.Q341E	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	361					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAAAACCTCTCAGATGTCGGA	0.478000													8	40					0	0	0.278610	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518454	161518454	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:161518454C>A	ENST00000367969.3	-	3	367	c.184G>T	c.(184-186)Gct>Tct	p.A62S	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000540048.1_Missense_Mutation_p.A26S|FCGR3A_ENST00000443193.1_Missense_Mutation_p.A61S|FCGR3A_ENST00000436743.1_Missense_Mutation_p.A26S	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	26	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACACCACAGCCTTTGGGAGA	0.557000													10	104					2.68362e-12	3.09816e-12	0.411799	1	0
GRB14	2888	broad.mit.edu	37	2	165365354	165365354	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:165365354C>T	ENST00000263915.3	-	7	1363	c.825G>A	c.(823-825)cgG>cgA	p.R275R	GRB14_ENST00000543549.1_Silent_p.R188R	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	275	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.R275R(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ACTGCAAATGCCGCGGTTCCT	0.323000													50	21					0	0	0.870114	0	0
AKAP3	10566	broad.mit.edu	37	12	4736477	4736477	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:4736477C>T	ENST00000545990.2	-	5	2115	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	AKAP3_ENST00000228850.1_Missense_Mutation_p.A531T	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	531					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGAAGCAGGGCAGACACGATC	0.512000													4	148					0	0	0.217242	0	0
BRE	9577	broad.mit.edu	37	2	28352238	28352238	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:28352238G>C	ENST00000344773.2	+	7	809	c.671G>C	c.(670-672)cGa>cCa	p.R224P	BRE_ENST00000361704.2_Missense_Mutation_p.R224P|BRE_ENST00000379632.2_Missense_Mutation_p.R224P|BRE_ENST00000379624.1_Missense_Mutation_p.R224P|BRE_ENST00000342045.2_Missense_Mutation_p.R224P	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	224					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTGTCACCTCGAATTGAGCAG	0.448000													28	65					0	0	0.788014	0	0
ZNF214	7761	broad.mit.edu	37	11	7023947	7023947	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:7023947C>T	ENST00000278314.4	-	2	435	c.120G>A	c.(118-120)atG>atA	p.M40I	ZNF214_ENST00000536068.1_Missense_Mutation_p.M40I|ZNF214_ENST00000531083.1_5'UTR	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TACCTACTGACATGACATTTG	0.378000													31	88					0	0	0.796494	0	0
TRRAP	8295	broad.mit.edu	37	7	98557029	98557029	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98557029C>T	ENST00000359863.4	+	44	6593	c.6384C>T	c.(6382-6384)aaC>aaT	p.N2128N	TRRAP_ENST00000446306.3_Silent_p.N2109N|TRRAP_ENST00000355540.3_Silent_p.N2110N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2128	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGTGTGAACCTTCTGAAGA	0.562000													23	57					0	0	0.681144	0	0
SUMF1	285362	broad.mit.edu	37	3	4452589	4452589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:4452589C>T	ENST00000272902.5	-	7	949	c.914G>A	c.(913-915)tGg>tAg	p.W305*	SUMF1_ENST00000534863.1_Nonsense_Mutation_p.W305*|SUMF1_ENST00000458465.2_Nonsense_Mutation_p.W173*|SUMF1_ENST00000405420.2_Nonsense_Mutation_p.W305*|SUMF1_ENST00000383843.5_Nonsense_Mutation_p.W280*	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	305						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		AACAGTCCACCAGTCTGAAGT	0.453000													5	155					0	0	0.248553	0	0
CSMD1	64478	broad.mit.edu	37	8	2824186	2824186	+	Silent	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr8:2824186G>T	ENST00000602557.1	-	59	9564	c.9009C>A	c.(9007-9009)atC>atA	p.I3003I	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Silent_p.I3002I|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000520002.1_Silent_p.I3003I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3003	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCAGGCATAGATGACCGAGC	0.547000													14	70					7.87624e-14	9.16743e-14	0.639603	1	0
TUBA1B	10376	broad.mit.edu	37	12	49522057	49522057	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:49522057C>A	ENST00000336023.5	-	4	1134	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	347					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GCCAGTGGGGCACCAATCCAC	0.557000													7	64					0.000157383	0.000168033	0.278610	1	0
EPHB1	2047	broad.mit.edu	37	3	134977926	134977926	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:134977926G>T	ENST00000398015.3	+	16	3289	c.2919G>T	c.(2917-2919)agG>agT	p.R973S	EPHB1_ENST00000493838.1_Missense_Mutation_p.R534S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	973	SAM.		R -> W (in dbSNP:rs1042784).			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						ATTCTATGAGGGTCCAGATAA	0.502000													9	16					0.00136819	0.00142856	0.411799	1	0
GABRB2	2561	broad.mit.edu	37	5	160886792	160886792	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:160886792T>C	ENST00000274547.2	-	5	513	c.296A>G	c.(295-297)aAt>aGt	p.N99S	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Missense_Mutation_p.N99S|GABRB2_ENST00000393959.1_Missense_Mutation_p.N99S|GABRB2_ENST00000353437.6_Missense_Mutation_p.N99S|GABRB2_ENST00000517901.1_Missense_Mutation_p.N36S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	99					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTATTACATTATAGGACAG	0.408000													10	37					0	0	0.479597	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													5	117					0	0	0.217242	0	0
GNAO1	2775	broad.mit.edu	37	16	56388866	56388866	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr16:56388866C>A	ENST00000262493.6	+	8	1812	c.966C>A	c.(964-966)caC>caA	p.H322Q		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	322					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TATATTGTCACATGACTTGTG	0.498000													7	57					0.000274275	0.00029065	0.307466	1	0
RIMS3	9783	broad.mit.edu	37	1	41107425	41107425	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:41107425C>A	ENST00000372684.3	-	3	642	c.173G>T	c.(172-174)gGc>gTc	p.G58V	RIMS3_ENST00000372683.1_Missense_Mutation_p.G58V	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	58					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CTGAGTCAGGCCCACGATGGC	0.652000													23	63					2.48779e-11	2.84893e-11	0.693898	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27999153	27999153	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:27999153C>A	ENST00000441525.1	-	1	413	c.299G>T	c.(298-300)aGg>aTg	p.R100M		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	100	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ttcctcctccCTTTCTGTCTC	0.483000													24	43					1.96895e-08	2.21897e-08	0.639603	1	0
ZNF208	7757	broad.mit.edu	37	19	22155506	22155506	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:22155506T>C	ENST00000397126.4	-	4	2478	c.2330A>G	c.(2329-2331)tAc>tGc	p.Y777C	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCACATTTGTAGGGTTTCTC	0.363000													14	37					0	0	0.575678	0	0
BBX	56987	broad.mit.edu	37	3	107524293	107524293	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:107524293G>A	ENST00000415149.2	+	17	3052	c.2725G>A	c.(2725-2727)Gct>Act	p.A909T	BBX_ENST00000402543.1_Missense_Mutation_p.A889T|BBX_ENST00000325805.8_Missense_Mutation_p.A939T|BBX_ENST00000406780.1_Missense_Mutation_p.A909T|BBX_ENST00000416476.2_Silent_p.A602A	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TATTTCCTGCGCTGACCAGTG	0.468000													9	83					0	0	0.335167	0	0
MTAP	4507	broad.mit.edu	37	9	21859395	21859395	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr9:21859395G>A	ENST00000380172.4	+	7	990	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	MTAP_ENST00000460874.2_Missense_Mutation_p.E279K|RP11-145E5.5_ENST00000404796.2_Intron|RP11-70L8.4_ENST00000581788.1_RNA|MTAP_ENST00000580900.1_Missense_Mutation_p.E262K	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	262					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	AGGGTCCACAGAATGGTCAGA	0.443000													10	52					0	0	0.387290	0	0
CDK17	5128	broad.mit.edu	37	12	96680478	96680478	+	Missense_Mutation	SNP	C	C	T	rs147593071		TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:96680478C>T	ENST00000261211.3	-	12	1783	c.1180G>A	c.(1180-1182)Gtg>Atg	p.V394M	CDK17_ENST00000543119.2_Missense_Mutation_p.V394M|CDK17_ENST00000542666.1_Missense_Mutation_p.V341M	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	394	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TCATCTTCCACGGTTGATCCT	0.363000													17	58					0	0	0.608945	0	0
MASP1	5648	broad.mit.edu	37	3	186974605	186974605	+	Silent	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:186974605G>A	ENST00000337774.5	-	5	980	c.591C>T	c.(589-591)atC>atT	p.I197I	MASP1_ENST00000296280.6_Silent_p.I197I|MASP1_ENST00000392472.2_Silent_p.I84I|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Silent_p.I197I|MASP1_ENST00000392470.2_Silent_p.I171I	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	197	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGGGCTGGTGATCACCCCAG	0.512000													23	75					0	0	0.769981	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216123	21216123	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr14:21216123C>T	ENST00000326842.2	+	2	511	c.384C>T	c.(382-384)ggC>ggT	p.G128G		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	128					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TCCATTGTGGCGTAGATGGAT	0.438000													9	67					0	0	0.307466	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926224	67926224	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:67926224T>C	ENST00000304363.4	-	11	1942	c.1589A>G	c.(1588-1590)gAg>gGg	p.E530G		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGGCGAGCTCTCCCCCTGCGA	0.562000													3	129					0	0	0.184627	0	0
DRD5	1816	broad.mit.edu	37	4	9784092	9784092	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr4:9784092C>T	ENST00000304374.2	+	1	835	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	147					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAGGCCCTTCCGCTACAAGCG	0.597000													10	24					0	0	0.361761	0	0
MUC17	140453	broad.mit.edu	37	7	100680525	100680525	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:100680525T>C	ENST00000306151.4	+	3	5892	c.5828T>C	c.(5827-5829)aTc>aCc	p.I1943T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1943	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAAATCAACACCCTT	0.498000													5	442					0	0	0.278610	0	0
TRRAP	8295	broad.mit.edu	37	7	98558955	98558955	+	Silent	SNP	C	C	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:98558955C>T	ENST00000359863.4	+	45	6749	c.6540C>T	c.(6538-6540)gtC>gtT	p.V2180V	TRRAP_ENST00000446306.3_Silent_p.V2161V|TRRAP_ENST00000355540.3_Silent_p.V2162V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2180	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTAACTGTCCTCCAGTCCC	0.547000													26	112					0	0	0.717897	0	0
ZNF264	9422	broad.mit.edu	37	19	57724047	57724047	+	Silent	SNP	C	C	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr19:57724047C>A	ENST00000263095.6	+	4	1996	c.1582C>A	c.(1582-1584)Cga>Aga	p.R528R	ZNF264_ENST00000536056.1_Silent_p.R528R	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AAACCTCATTCGACATGCCAT	0.498000													4	118					0.184627	0.187265	0.184627	1	0
MYO16	23026	broad.mit.edu	37	13	109704741	109704741	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr13:109704741G>T	ENST00000356711.2	+	25	3026	c.2900G>T	c.(2899-2901)gGa>gTa	p.G967V	MYO16_ENST00000457511.2_Missense_Mutation_p.G479V|MYO16_ENST00000357550.2_Missense_Mutation_p.G967V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	967	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAATTCCGAGGACATAAGTCT	0.373000													9	44					3.86212e-05	4.25133e-05	0.361761	1	0
AKAP9	10142	broad.mit.edu	37	7	91631838	91631838	+	Silent	SNP	T	T	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:91631838T>C	ENST00000359028.2	+	9	2868	c.2643T>C	c.(2641-2643)gcT>gcC	p.A881A	AKAP9_ENST00000358100.2_Silent_p.A881A|AKAP9_ENST00000356239.3_Silent_p.A869A			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	881	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGAGTATGCTTGCCTTCTCA	0.303000			T	BRAF	papillary thyroid								7	41					0	0	0.307466	0	0
DCAF6	55827	broad.mit.edu	37	1	167971768	167971768	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:167971768G>C	ENST00000367840.3	+	8	1046	c.952G>C	c.(952-954)Gat>Cat	p.D318H	DCAF6_ENST00000432587.2_Missense_Mutation_p.D287H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D318H|DCAF6_ENST00000312263.6_Missense_Mutation_p.D318H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	318					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGATTGGTCAGATACTGGACC	0.378000													36	122					0	0	0.870114	0	0
KCNT2	343450	broad.mit.edu	37	1	196227553	196227553	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:196227553G>C	ENST00000367433.5	-	25	3011	c.2910C>G	c.(2908-2910)agC>agG	p.S970R	KCNT2_ENST00000294725.8_Missense_Mutation_p.S994R|KCNT2_ENST00000367431.4_Missense_Mutation_p.S928R|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	994						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGCGGTGGTTGCTGCGGTGGT	0.468000													24	104					0	0	0.706142	0	0
KRT16	3868	broad.mit.edu	37	17	39766663	39766663	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr17:39766663G>C	ENST00000301653.4	-	6	1264	c.1200C>G	c.(1198-1200)taC>taG	p.Y400*		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	400	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCAAGATCTGGTACTCCTGGC	0.627000													50	112					0	0	0.870114	0	0
ALK	238	broad.mit.edu	37	2	30142966	30142966	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:30142966A>T	ENST00000389048.3	-	1	1466	c.560T>A	c.(559-561)aTc>aAc	p.I187N	ALK_ENST00000431873.1_Missense_Mutation_p.I187N	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	187					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATCAGGCGGATCCTCAGTCG	0.652000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	30					0	0	0.248553	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161146982	161146982	+	RNA	SNP	T	T	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr3:161146982T>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AACATATGCCTTCTTCTCTCC	0.433000													22	79					0	0	0.667858	0	0
MAN2A1	4124	broad.mit.edu	37	5	109191010	109191010	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr5:109191010T>G	ENST00000261483.4	+	20	4198	c.3146T>G	c.(3145-3147)gTt>gGt	p.V1049G	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1049					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATTCATCTGGTTAATTTGAGA	0.358000													7	21					0	0	0.278610	0	0
DIAPH2	1730	broad.mit.edu	37	X	96369879	96369879	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chrX:96369879A>T	ENST00000324765.8	+	21	2851	c.2504A>T	c.(2503-2505)gAg>gTg	p.E835V	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E831V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E835V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E835V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E835V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	835	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGACTTTTAGAGTTAGTTCTT	0.358000													10	14					0	0	0.335167	0	0
SLC22A23	63027	broad.mit.edu	37	6	3273470	3273470	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr6:3273470G>A	ENST00000436008.2	-	11	2366	c.1904C>T	c.(1903-1905)cCt>cTt	p.P635L	SLC22A23_ENST00000490273.1_Missense_Mutation_p.P346L|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000380302.4_Missense_Mutation_p.P346L|SLC22A23_ENST00000406686.3_Missense_Mutation_p.P627L			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	627					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AATGTTCTCAGGCAGGTTCTG	0.597000													27	153					0	0	0.769981	0	0
ESPNP	284729	broad.mit.edu	37	1	17034246	17034247	+	RNA	INS	-	-	G			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:17034246_17034247insG	ENST00000492551.1	-	0	381					NR_026567.1																						GCGGGGAGAGAGGGCCGGGGGA	0.772													2	4	---	---	---	---					
CD247	919	broad.mit.edu	37	1	167408580	167408580	+	Splice_Site	DEL	C	C	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr1:167408580delC	ENST00000392122.3	-	3	364		c.e3+1		CD247_ENST00000362089.5_Splice_Site|CD247_ENST00000483825.1_Splice_Site	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule						interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			GGCTGACTTACGTTATAGAGC	0.622													31	175	---	---	---	---					
WIPF1	7456	broad.mit.edu	37	2	175440027	175440041	+	In_Frame_Del	DEL	CCTCCGCCACCACCT	CCTCCGCCACCACCT	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr2:175440027_175440041delCCTCCGCCACCACCT	ENST00000392547.2	-	4	348_362	c.249_263delAGGTGGTGGCGGAGG	c.(247-264)ggc>gg	p.GGGGGG83del	WIPF1_ENST00000392546.2_In_Frame_Del_p.GGGGGG83del|WIPF1_ENST00000272746.5_In_Frame_Del_p.GGGGGG83del|WIPF1_ENST00000359761.3_In_Frame_Del_p.GGGGGG83del|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000410117.1_In_Frame_Del_p.GGGGGG83del|WIPF1_ENST00000409415.3_In_Frame_Del_p.GGGGGG83del|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_In_Frame_Del_p.GGGGGG83del|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	83	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						acttccaccgcctccgccaccacctcctccgccaa	0.600													34	83	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100028370	100028392	+	Frame_Shift_Del	DEL	TTGCACTGATGAGGGCCATGTAG	TTGCACTGATGAGGGCCATGTAG	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr7:100028370_100028392delTTGCACTGATGAGGGCCATGTAG	ENST00000310512.2	+	1	1117_1139	c.729_751delTTGCACTGATGAGGGCCATGTAG	c.(727-753)acttfs	p.TCTDEGHVV243fs	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	243							methyltransferase activity	p.H249P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCTCAATACTTGCACTGATGAGGGCCATGTAGTTCTTGCTTC	0.592													22	398	---	---	---	---					
OR5D13	390142	broad.mit.edu	37	11	55541558	55541565	+	Frame_Shift_Del	DEL	CATTCTGA	CATTCTGA	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr11:55541558_55541565delCATTCTGA	ENST00000361760.1	+	1	645_652	c.645_652delCATTCTGA	c.(643-654)atcafs	p.IILT215fs		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACATCATATAT	0.442													13	105	---	---	---	---					
RP11-167N24.4	0	broad.mit.edu	37	12	95794463	95794464	+	RNA	DEL	CT	CT	-			TCGA-ER-A3ET-06A-11D-A20D-08	TCGA-ER-A3ET-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27fe0dd4-09fc-4c5b-89e9-bacdfddb1722	0e516b54-0c82-4a60-a7bd-d2de9940daf4	g.chr12:95794463_95794464delCT	ENST00000548194.1	-	0	150																											CTCTCTCTTGCtctctctctct	0.485													2	4	---	---	---	---