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
MECR	51102	broad.mit.edu	37	1	29527049	29527049	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:29527049G>A	ENST00000373791.3	-	7	953	c.581C>T	c.(580-582)aCa>aTa	p.T194I	MECR_ENST00000263702.6_Missense_Mutation_p.T270I	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	270					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CAGCAGCTCTGTGGAGCTTTT	0.562													4	26	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33797885	33797885	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr1:33797885A>C	ENST00000257118.5	-	10	1932	c.1879T>G	c.(1879-1881)Tat>Gat	p.Y627D	PHC2_ENST00000373422.3_Missense_Mutation_p.Y233D|PHC2_ENST00000431992.1_Missense_Mutation_p.Y598D|PHC2_ENST00000373416.1_Missense_Mutation_p.Y92D|PHC2_ENST00000419414.2_Missense_Mutation_p.Y628D|PHC2_ENST00000373418.3_Missense_Mutation_p.Y92D|PHC2_ENST00000485928.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	627					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTGCAGATAGGGCTCCTCC	0.567													4	95	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80530262	80530262	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:80530262T>C	ENST00000295057.3	-	2	1339	c.683A>G	c.(682-684)cAc>cGc	p.H228R	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.H228R|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	228						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGGGAAGTGGGCGAAGTT	0.577										HNSCC(69;0.2)			39	76	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228883536	228883536	+	Silent	SNP	A	A	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:228883536A>G	ENST00000392056.3	-	7	2080	c.2034T>C	c.(2032-2034)caT>caC	p.H678H	SPHKAP_ENST00000344657.5_Silent_p.H678H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	678						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATCAATGGAATGCCTCAGGA	0.418													103	173	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89468541	89468541	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:89468541G>T	ENST00000336596.2	+	11	2299		c.e11+1		EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3							extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTACCAAAAGTAAGTAAAGT	0.398										TSP Lung(6;0.00050)			22	48	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135722332	135722332	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr3:135722332C>T	ENST00000264977.3	+	2	2609	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	664					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAGGTGATCAAGGTAAGAC	0.353													18	66	---	---	---	---
FGFBP2	83888	broad.mit.edu	37	4	15964674	15964674	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:15964674C>T	ENST00000259989.6	-	1	185	c.79G>A	c.(79-81)Gga>Aga	p.G27R	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	27						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCAGTGCTTCCTTGCTTTTGC	0.577													12	36	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57181022	57181022	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr4:57181022G>A	ENST00000504228.1	+	6	1459	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E445K|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E452K			Q6ZU35	K1211_HUMAN	KIAA1211	452	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGGTATTTGCGAGGAGCAGAA	0.592													3	14	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559000	140559000	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:140559000G>A	ENST00000239444.2	+	1	1630	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		462	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.627													21	325	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153174234	153174234	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr5:153174234A>T	ENST00000285900.5	+	14	2667	c.2324A>T	c.(2323-2325)aAa>aTa	p.K775I	GRIA1_ENST00000521843.2_Missense_Mutation_p.K706I|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Missense_Mutation_p.K695I|GRIA1_ENST00000518783.1_Missense_Mutation_p.K785I|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	775					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTTTGGACAAATTGAAAAAC	0.443													5	51	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281226	100281226	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr7:100281226T>C	ENST00000275732.5	-	17	3208	c.1999A>G	c.(1999-2001)Att>Gtt	p.I667V		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	667										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAAGAGTTAATTGGTATGTCC	0.597													10	140	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104448995	104448995	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:104448995A>C	ENST00000361820.3	-	2	1787	c.1187T>G	c.(1186-1188)gTc>gGc	p.V396G		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	396					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCTCTTGCGACCAGCTCCAT	0.498													4	80	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131765100	131765100	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr9:131765100C>T	ENST00000372577.2	+	37	4163	c.4142C>T	c.(4141-4143)cCt>cTt	p.P1381L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1381					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTAGACACCTAGTGCCTCT	0.562													12	45	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15590512	15590512	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:15590512C>G	ENST00000378076.3	-	27	3175	c.2822G>C	c.(2821-2823)gGa>gCa	p.G941A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	941					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTTTCTCCTCCTTCGAGTCG	0.473													7	45	---	---	---	---
ST8SIA6	338596	broad.mit.edu	37	10	17362963	17362963	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:17362963G>T	ENST00000377602.4	-	8	1185	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	371					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTGGGCATCTGATGGAAACCA	0.403													10	255	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76729799	76729799	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr10:76729799T>C	ENST00000287239.4	+	6	1357	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	KAT6B_ENST00000372714.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372725.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372724.1_Missense_Mutation_p.S290P|KAT6B_ENST00000372711.1_Missense_Mutation_p.S290P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	290					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTTTTGTGATTCCTGTGATAG	0.318													6	43	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1271277	1271277	+	Silent	SNP	C	C	G			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:1271277C>G	ENST00000447027.1	+	31	13234	c.13176C>G	c.(13174-13176)acC>acG	p.T4392T	MUC5B_ENST00000529681.1_Silent_p.T4389T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4389	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGGGACGACCTGGATCCTCA	0.662													4	102	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587532	55587532	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr11:55587532G>A	ENST00000333976.4	+	1	447	c.427G>A	c.(427-429)Gtg>Atg	p.V143M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAAACTCTGCGTGCTGCTGGT	0.468													32	124	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43819391	43819391	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr12:43819391G>T	ENST00000389420.3	-	28	4209	c.4210C>A	c.(4210-4212)Cca>Aca	p.P1404T	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P522T|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1404T	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1404	TSP type-1 10.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACGCTAGGTGGCTTGTTTACA	0.403													6	21	---	---	---	---
SHISA2	387914	broad.mit.edu	37	13	26620948	26620948	+	Silent	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:26620948C>T	ENST00000319420.3	-	2	646	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	197					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						TTGTTGGGGGCGCCCGGGCCC	0.612													7	105	---	---	---	---
NUFIP1	26747	broad.mit.edu	37	13	45533530	45533530	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr13:45533530A>C	ENST00000379161.4	-	7	1053	c.1007T>G	c.(1006-1008)aTa>aGa	p.I336R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	336					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ATCACTGTTTATCAAAACACC	0.403													35	66	---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55509920	55509920	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr14:55509920G>T	ENST00000395472.2	+	2	493	c.161G>T	c.(160-162)gGt>gTt	p.G54V	SOCS4_ENST00000555846.1_Missense_Mutation_p.G54V|SOCS4_ENST00000339298.2_Missense_Mutation_p.G54V	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	54					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ACAGTGAATGGTATAGAGAAA	0.413													23	68	---	---	---	---
TIMM13	26517	broad.mit.edu	37	19	2427323	2427323	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:2427323C>A	ENST00000215570.3	-	2	481		c.e2-1		TIMM13_ENST00000591871.1_Splice_Site	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)						protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCATCCTCTGTGGAGACA	0.687													12	149	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10096993	10096993	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10096993T>A	ENST00000264828.3	-	30	2435	c.2350A>T	c.(2350-2352)Aag>Tag	p.K784*		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	784	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCATTTACCTTCTCCCCAGCT	0.632													9	24	---	---	---	---
ICAM4	3386	broad.mit.edu	37	19	10398384	10398384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr19:10398384C>T	ENST00000340992.4	+	2	529	c.490C>T	c.(490-492)Caa>Taa	p.Q164*	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.A189A|ICAM4_ENST00000393717.2_Silent_p.A189A	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGGATCTGGCCAACGTGACCT	0.637													4	52	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99662943	99662943	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chrX:99662943C>T	ENST00000373034.4	-	1	2328	c.653G>A	c.(652-654)cGc>cAc	p.R218H	PCDH19_ENST00000420881.2_Missense_Mutation_p.R218H|PCDH19_ENST00000255531.7_Missense_Mutation_p.R218H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	218	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTGCCCAGGCGCGGCGGGTC	0.607													24	39	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40342400	40342400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7318-01B-11D-A32B-08	TCGA-EJ-7318-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b812ff8-df95-4cb8-994f-3781ffaa7283	aedb9142-7769-4ca6-b652-f7b81ce8166e	g.chr2:40342400delC	ENST00000406785.2	-	8	2996	c.2807delG	c.(2806-2808)ggcfs	p.G936fs	SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.G972fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.G936fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.G936fs|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.G964fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.G972fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.G967fs|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCTTTAGAAGCCTTTTATGTG	0.398													25	41	---	---	---	---
