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
DNMT3A	1788	broad.mit.edu	37	2	25457235	25457235	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:25457235C>T	ENST00000264709.3	-	23	2989	c.2652G>A	c.(2650-2652)gcG>gcA	p.A884A	DNMT3A_ENST00000321117.5_Silent_p.A884A|DNMT3A_ENST00000380746.4_Silent_p.A695A|DNMT3A_ENST00000402667.1_Silent_p.A661A	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	884					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCTGCCTCGCCAAGCGGC	0.597000			"""Mis, F, N, S"""		AML								14	53					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68282653	68282653	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:68282653C>T	ENST00000347230.4	-	2	166	c.28G>A	c.(28-30)Gct>Act	p.A10T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A10T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	10					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCGAAGCAGCTTCCTCTTTT	0.483000													4	24					0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39565302	39565302	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:39565302G>A	ENST00000307712.6	-	2	538	c.21C>T	c.(19-21)ttC>ttT	p.F7F	SEC23A_ENST00000553970.1_Silent_p.F7F|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000548032.2_Silent_p.F7F|SEC23A_ENST00000557280.1_Silent_p.F7F|SEC23A_ENST00000545328.2_Silent_p.F7F	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	7					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTGTTGAATGAATTCCAAAT	0.358000													6	66					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36223364	36223364	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:36223364G>C	ENST00000222270.7	+	28	5914	c.5914G>C	c.(5914-5916)Gac>Cac	p.D1972H	KMT2B_ENST00000420124.1_Missense_Mutation_p.D1972H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		ACCCCCTGAAGACCTGGGCCC	0.667000													3	29					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877829	150877829	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr3:150877829G>C	ENST00000474524.1	+	7	1086	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.D350H|MED12L_ENST00000309237.4_Missense_Mutation_p.D350H	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	350					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGCCTTCTCAGATTTTCTTTC	0.527000													38	122					0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926365	22926365	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:22926365C>T	ENST00000261374.3	+	2	1020	c.586C>T	c.(586-588)Cga>Tga	p.R196*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	196						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CAACATGTCCCGAGACACCAA	0.572000													5	73					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202767	56202767	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr18:56202767G>C	ENST00000361673.3	-	5	4865	c.4652C>G	c.(4651-4653)gCt>gGt	p.A1551G	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1551			A -> S (in dbSNP:rs3809983).				ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCCAAGAGAAGCGTGAGTCAT	0.468000													7	61					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972434	61972434	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:61972434G>A	ENST00000316193.8	-	5	743	c.602C>T	c.(601-603)aCa>aTa	p.T201I	CSH1_ENST00000329882.8_3'UTR|CSH1_ENST00000453363.3_Missense_Mutation_p.T106I	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	201					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GCGCAGGAATGTCTCGACCTT	0.582000									Russell-Silver syndrome				6	109					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23528406	23528406	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:23528406C>A	ENST00000262710.1	-	19	4304	c.3977G>T	c.(3976-3978)aGa>aTa	p.R1326I	ACIN1_ENST00000338631.6_Missense_Mutation_p.R599I|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1313I|ACIN1_ENST00000397341.3_Missense_Mutation_p.R568I|ACIN1_ENST00000357481.2_Missense_Mutation_p.R568I|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1268I|ACIN1_ENST00000557515.1_Missense_Mutation_p.R567I|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1286I	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1326	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACTCCGGCTTCTGCTGTGGCG	0.652000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	66					0.00116845	0.0012221	1	1	0
C17orf97	400566	broad.mit.edu	37	17	263666	263666	+	Silent	SNP	C	C	T	rs111388956		TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:263666C>T	ENST00000360127.6	+	2	1048	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	374	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G344G(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.687000													3	36					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54921496	54921496	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:54921496C>G	ENST00000284061.3	+	3	761	c.581C>G	c.(580-582)tCc>tGc	p.S194C	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	194					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TATTTAACATCCATTAATCAG	0.269000													12	78					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442252	138442252	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr4:138442252G>A	ENST00000344876.4	-	4	3725	c.3339C>T	c.(3337-3339)caC>caT	p.H1113H	PCDH18_ENST00000510305.1_Silent_p.H324H|PCDH18_ENST00000511115.1_Silent_p.H293H|PCDH18_ENST00000412923.2_Silent_p.H1112H|PCDH18_ENST00000507846.1_Silent_p.H892H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1113	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATGAGTTCGTGTTTCCCAT	0.448000													3	52					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203152	135203152	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr9:135203152G>A	ENST00000372169.2	-	10	4015	c.3833C>T	c.(3832-3834)cCt>cTt	p.P1278L	SETX_ENST00000224140.5_Missense_Mutation_p.P1278L|SETX_ENST00000393220.1_Missense_Mutation_p.P1278L			Q7Z333	SETX_HUMAN	senataxin	1278					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTTGGCTCAGGACACTGACG	0.428000													11	169					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8486137	8486137	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr9:8486137T>C	ENST00000381196.4	-	25	3223	c.2680A>G	c.(2680-2682)Agg>Ggg	p.R894G	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.R894G|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.R881G|PTPRD_ENST00000358503.5_Missense_Mutation_p.R872G|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R894G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	894	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTGAGAGCCTGAAGACGTAT	0.468000										TSP Lung(15;0.13)			4	154					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10403796	10403796	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:10403796G>C	ENST00000221980.4	+	6	1402	c.1339G>C	c.(1339-1341)Gac>Cac	p.D447H		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	447	Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCGCGCTCCGACGGCGGGGC	0.706000													10	50					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33073481	33073481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr21:33073481G>A	ENST00000286835.7	-	7	986	c.604C>T	c.(604-606)Cag>Tag	p.Q202*	SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q187*|SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q202*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	202						nucleus	nucleotide binding|RNA binding	p.Q202*(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGGATCTGCTGAAGCTTAAAG	0.363000													3	39					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158637680	158637680	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:158637680C>A	ENST00000368147.4	-	15	2186	c.2006G>T	c.(2005-2007)tGg>tTg	p.W669L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAACTCCTCCCAGAGGCTGGC	0.438000													4	67					2.56e-06	2.83676e-06	1	1	0
NUTM2G	441457	broad.mit.edu	37	9	99699434	99699434	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr9:99699434C>T	ENST00000354649.3	+	5	1786	c.1071C>T	c.(1069-1071)caC>caT	p.H357H	NUTM2G_ENST00000372322.3_Silent_p.H357H|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		CCAAGGCCCACCTGCCACCAC	0.662000													7	43					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452797	106452797	+	RNA	SNP	A	A	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:106452797A>T	ENST00000390594.2	-	0	288																											AGTTTGTGCCACCACTGTTAG	0.557000													5	200					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163525	139163525	+	Missense_Mutation	SNP	G	G	C	rs35639744		TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr8:139163525G>C	ENST00000395297.1	-	13	3363	c.3193C>G	c.(3193-3195)Ccc>Gcc	p.P1065A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1065								p.P1065T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGGTGATGGGAAACAGGGTC	0.517000										HNSCC(54;0.14)			5	35					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823264	3823264	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:3823264C>A	ENST00000262961.4	-	8	1361	c.1351G>T	c.(1351-1353)Ggc>Tgc	p.G451C		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	451						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TATTCCGGGCCCACCGGCTGC	0.627000													6	100					8.12818e-05	8.67853e-05	1	1	0
DCC	1630	broad.mit.edu	37	18	50432517	50432517	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr18:50432517C>G	ENST00000442544.2	+	3	1132	c.516C>G	c.(514-516)caC>caG	p.H172Q	DCC_ENST00000412726.1_Missense_Mutation_p.H20Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	172	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAACAATCCACTGGCAGAAGA	0.547000													4	46					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479197	14479197	+	RNA	SNP	T	T	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr18:14479197T>A	ENST00000581457.1	-	0	711					NR_024076.1																						TGCTCAGGAGTAGTGATACTC	0.557000													3	26					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32503197	32503197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chrX:32503197G>T	ENST00000357033.4	-	21	2848	c.2642C>A	c.(2641-2643)tCa>tAa	p.S881*	DMD_ENST00000378677.2_Nonsense_Mutation_p.S877*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	881					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGAAGATCTGATAGCCGGTT	0.388000													5	63					0.0215528	0.0218729	1	1	0
ACOT12	134526	broad.mit.edu	37	5	80628378	80628378	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:80628378G>A	ENST00000307624.3	-	13	1337	c.1309C>T	c.(1309-1311)Cac>Tac	p.H437Y	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	437	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAGGTGATGTGATACAGCTGA	0.433000													14	75					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86021873	86021873	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr8:86021873C>T	ENST00000414626.2	+	1	977	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L50F			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	50					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TGCCGTCAATCTTCATTGCAA	0.284000													4	38					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725417	106725417	+	RNA	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:106725417T>C	ENST00000390609.2	-	0	213																											TAAAGGTGAATCCAGAGGCTG	0.577000													11	306					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59272672	59272672	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:59272672C>T	ENST00000320743.3	-	14	2303	c.2017G>A	c.(2017-2019)Gta>Ata	p.V673I	LRIG3_ENST00000379141.4_Missense_Mutation_p.V613I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	673	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CAGCTGTATACCCCAATGTCC	0.478000			T	ROS1	NSCLC								10	122					0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32414241	32414241	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:32414241T>A	ENST00000332351.3	-	8	1594	c.1310A>T	c.(1309-1311)cAg>cTg	p.Q437L	WT1_ENST00000379079.2_Missense_Mutation_p.Q225L|WT1_ENST00000530998.1_Missense_Mutation_p.Q208L|WT1_ENST00000448076.3_Missense_Mutation_p.Q437L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	369					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TCTTTTGAGCTGGTCTGAACG	0.433000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				3	41					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39947589	39947589	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr21:39947589G>A	ENST00000442448.1	-	3	307	c.36C>T	c.(34-36)atC>atT	p.I12I	ERG_ENST00000398911.1_Silent_p.I12I|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398919.2_Silent_p.I12I|ERG_ENST00000417133.2_Silent_p.I12I|ERG_ENST00000398897.1_5'UTR|ERG_ENST00000398910.1_Silent_p.I12I	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	12					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GACTTACCTTGATATGAGCTG	0.512000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								9	45					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14828480	14828480	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:14828480C>T	ENST00000292530.6	+	11	926	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	ZNF333_ENST00000536363.1_Nonsense_Mutation_p.Q170*|ZNF333_ENST00000540689.2_Nonsense_Mutation_p.Q279*	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ACCTCAGTGTCAACCCCAAGA	0.433000													3	35					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	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													4	80					0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227075809	227075809	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:227075809G>C	ENST00000366782.1	+	7	1115	c.615G>C	c.(613-615)ttG>ttC	p.L205F	PSEN2_ENST00000366783.3_Missense_Mutation_p.L172F|PSEN2_ENST00000472139.2_Missense_Mutation_p.L28F|PSEN2_ENST00000340188.4_Missense_Mutation_p.L172F|PSEN2_ENST00000391872.2_Missense_Mutation_p.L205F|PSEN2_ENST00000422240.2_Missense_Mutation_p.L172F			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	172					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				ATGGCTGGTTGATCATGTCTT	0.517000													15	70					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841445	8841445	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:8841445A>T	ENST00000324060.2	+	1	130	c.55A>T	c.(55-57)Agt>Tgt	p.S19C		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGCCTCTTCAGTCACTCAGG	0.512000													3	43					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512478	61512478	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr20:61512478C>G	ENST00000266070.4	-	16	5155	c.4830G>C	c.(4828-4830)gaG>gaC	p.E1610D	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1610D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1610					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTCTTTTTCCTCCGGGACTG	0.706000													3	15					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159272183	159272183	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:159272183T>C	ENST00000368115.1	+	2	128	c.29T>C	c.(28-30)cTa>cCa	p.L10P	FCER1A_ENST00000368114.1_Missense_Mutation_p.L10P	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	10						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCCCCTACTCTACTGTGTGTA	0.473000													19	217					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	63					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202587812	202587812	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:202587812G>A	ENST00000264276.6	-	23	4028	c.3656C>T	c.(3655-3657)aCt>aTt	p.T1219I	ALS2_ENST00000457679.2_Missense_Mutation_p.T531I	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1219					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCATAGATAGTATCATCTTC	0.333000													16	122					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230611	147230611	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:147230611C>G	ENST00000271348.2	-	2	897	c.736G>C	c.(736-738)Gct>Cct	p.A246P	GJA5_ENST00000369237.1_Missense_Mutation_p.A246P	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	246					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGGCACTTAGCCATGTGCTGC	0.577000													6	97					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68877531	68877531	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:68877531G>T	ENST00000261778.1	+	1	23	c.11G>T	c.(10-12)cGa>cTa	p.R4L		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		ATGGCGGCCCGACAGGCCGTG	0.667000													7	100					1.06961e-07	1.21817e-07	1	1	0
RTCB	51493	broad.mit.edu	37	22	32794028	32794028	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr22:32794028G>T	ENST00000216038.5	-	7	812	c.714C>A	c.(712-714)ttC>ttA	p.F238L	RTCB_ENST00000476619.1_Intron|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CATACTCATTGAAAATCTCAT	0.458000													9	103					1.12685e-05	1.24196e-05	1	1	0
RPS26	6231	broad.mit.edu	37	12	56436330	56436330	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:56436330G>T	ENST00000356464.5	+	2	439	c.125G>T	c.(124-126)cGa>cTa	p.R42L	RPS26_ENST00000552361.1_Missense_Mutation_p.R42L			P62854	RS26_HUMAN	ribosomal protein S26	42					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCGTCATTCGAAACATAGTG	0.562000													7	60					0.00448238	0.00464085	1	1	0
MREG	55686	broad.mit.edu	37	2	216810332	216810332	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:216810332T>C	ENST00000263268.6	-	4	767	c.472A>G	c.(472-474)Aca>Gca	p.T158A		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	158						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		TCCCAACTTGTTGGGAAAATA	0.373000													5	66					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51032798	51032798	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:51032798T>G	ENST00000396153.2	-	13	1670	c.1219A>C	c.(1219-1221)Aat>Cat	p.N407H	FAF1_ENST00000545823.1_Missense_Mutation_p.N165H|FAF1_ENST00000371778.4_Missense_Mutation_p.N407H|FAF1_ENST00000472808.1_5'UTR	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	407					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		GTTATAAAATTTTGACTCAGA	0.383000													11	55					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123887206	123887206	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:123887206C>G	ENST00000320891.4	+	1	925	c.925C>G	c.(925-927)Cag>Gag	p.Q309E		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCACATCCTCAGAGGAAATA	0.358000													3	47					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005454	118005454	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr4:118005454C>G	ENST00000310754.4	-	1	1282	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	366					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GAAGATTTCTCTTTCCTCTTT	0.368000													11	157					0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25679784	25679784	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:25679784G>A	ENST00000539744.1	-	5	722	c.243C>T	c.(241-243)ctC>ctT	p.L81L	IFLTD1_ENST00000445693.1_Silent_p.L115L|IFLTD1_ENST00000282881.6_Silent_p.L178L|IFLTD1_ENST00000458174.2_Silent_p.L199L|IFLTD1_ENST00000413632.2_Silent_p.L199L	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	178						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CATTTTGCTGGAGAATATGAT	0.378000													11	95					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746642	145746642	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr8:145746642C>T	ENST00000292524.1	+	4	1408	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	LRRC14_ENST00000529022.1_Missense_Mutation_p.A421V	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	421										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGGCACAGGCTGAGCTGCGT	0.637000													9	42					0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043909	77043909	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:77043909C>T	ENST00000339142.2	+	5	1140	c.585C>T	c.(583-585)ttC>ttT	p.F195F	C1QTNF1_ENST00000580474.1_Silent_p.F195F|C1QTNF1_ENST00000392445.2_Silent_p.F195F|C1QTNF1_ENST00000311661.4_Silent_p.F113F|C1QTNF1_ENST00000579760.1_Silent_p.F195F|C1QTNF1_ENST00000581774.1_Silent_p.F195F|C1QTNF1_ENST00000580454.1_Silent_p.F195F|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000578229.1_Silent_p.F113F|C1QTNF1_ENST00000354124.3_Silent_p.F205F|C1QTNF1_ENST00000583904.1_Silent_p.F195F	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	195	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TCTACTTCTTCAGCCTCAACG	0.557000													17	74					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190068039	190068039	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:190068039G>T	ENST00000367462.3	-	8	1641	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	BRINP3_ENST00000534846.1_Missense_Mutation_p.S368R	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	470																	AGAGCCCCTGGCTGAGCATGT	0.577000													8	86					0.000442599	0.000465297	1	1	0
CAP2	10486	broad.mit.edu	37	6	17507501	17507501	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr6:17507501G>A	ENST00000229922.2	+	5	934	c.402G>A	c.(400-402)tcG>tcA	p.S134S	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Silent_p.S108S|CAP2_ENST00000465994.1_Silent_p.S134S|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	134					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ATCATCTTTCGGCCGTCAGCG	0.483000													5	72					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133111	133111	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:133111G>A	ENST00000219431.4	+	4	607	c.376G>A	c.(376-378)Gca>Aca	p.A126T	MPG_ENST00000397817.1_Missense_Mutation_p.A109T	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	126					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GGAGACCGAGGCATACCTGGG	0.637000								Base excision repair (BER), DNA glycosylases					4	180					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452882	106452882	+	RNA	SNP	G	G	C	rs11553010		TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:106452882G>C	ENST00000390594.2	-	0	203																											GCCGGTGAAGGTGTATCCAGA	0.582000													5	133					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773380	107773380	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr8:107773380G>A	ENST00000311955.3	-	2	1085	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	344					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TACTTTATCTGAAATACGAAC	0.458000													4	108					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331214	17331214	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:17331214C>G	ENST00000452699.1	-	5	639	c.450G>C	c.(448-450)aaG>aaC	p.K150N	ATP13A2_ENST00000326735.8_Missense_Mutation_p.K150N|ATP13A2_ENST00000341676.5_Missense_Mutation_p.K150N|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	150					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCTCCTCGCTCTTGTGGAGCT	0.622000													12	68					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49165627	49165627	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:49165627G>C	ENST00000307885.4	-	18	3611	c.2917C>G	c.(2917-2919)Cag>Gag	p.Q973E	ADCY6_ENST00000550422.1_Missense_Mutation_p.Q920E|ADCY6_ENST00000357869.3_Missense_Mutation_p.Q920E	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	973					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCACACGACTGATAGTAGAGT	0.557000													6	36					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													3	28					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119324144	119324144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr6:119324144G>A	ENST00000338891.7	-	9	2451	c.2008C>T	c.(2008-2010)Caa>Taa	p.Q670*	FAM184A_ENST00000352896.5_Nonsense_Mutation_p.Q550*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.Q550*|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.Q670*|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	670										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TGCAAAAGTTGAGACATTGCT	0.343000													10	95					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091147	147091147	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:147091147G>A	ENST00000234739.3	+	8	1926	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	396	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGGGTATTAGATGGGCCTCA	0.532000			T	"""IGH@, IGL@"""	B-ALL								8	131					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64734803	64734803	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chrX:64734803C>T	ENST00000374811.3	-	13	2018	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E643K|LAS1L_ENST00000374804.5_Missense_Mutation_p.E601K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	660						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GCTGGGTCCTCGGTCTGACCT	0.552000													4	8					0	0	1	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452867	106452867	+	RNA	SNP	T	T	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:106452867T>A	ENST00000390594.2	-	0	218																											CCAGTGCATATAGTAGCCGGT	0.572000													4	168					0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17600937	17600937	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr22:17600937G>C	ENST00000331437.3	-	1	1206	c.1081C>G	c.(1081-1083)Ccc>Gcc	p.P361A	CECR6_ENST00000399875.1_Missense_Mutation_p.P6A	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	361										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		TAGAGCAGGGGCACCGACAGC	0.716000													4	60					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226866	43226866	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:43226866C>G	ENST00000332499.2	+	1	2183	c.309C>G	c.(307-309)ttC>ttG	p.F103L		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	103					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGCGACTTCCCGCCGCCGG	0.672000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68877571	68877571	+	Silent	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:68877571G>C	ENST00000261778.1	+	1	63	c.51G>C	c.(49-51)ctG>ctC	p.L17L		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		CATGCGGTCTGGATCGGATTT	0.697000													5	134					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136530022	136530022	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:136530022G>C	ENST00000272638.9	+	9	1166	c.855G>C	c.(853-855)aaG>aaC	p.K285N	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	285					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GTTTTGCAAAGACAAAGGAAG	0.413000													5	48					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212173	26212173	+	Silent	SNP	T	T	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chrX:26212173T>A	ENST00000379034.1	+	2	359	c.210T>A	c.(208-210)acT>acA	p.T70T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	70	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGTCACCCACTGGGTCTCCTG	0.532000													7	38					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136307	40136307	+	Silent	SNP	T	T	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:40136307T>G	ENST00000278198.2	-	2	3499	c.1536A>C	c.(1534-1536)atA>atC	p.I512I	LRRC4C_ENST00000527150.1_Silent_p.I512I|LRRC4C_ENST00000528697.1_Silent_p.I512I|LRRC4C_ENST00000530763.1_Silent_p.I512I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	512					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCCACTGTTTATATCAGTCA	0.498000													4	74					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453027	89453027	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr15:89453027C>T	ENST00000539437.1	-	3	313	c.177G>A	c.(175-177)gaG>gaA	p.E59E	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000268150.8_Silent_p.E67E|MFGE8_ENST00000566497.1_Silent_p.E67E|MFGE8_ENST00000268151.7_Silent_p.E67E|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	67	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACTCACTCGTCTCACAGTGGT	0.557000													18	69					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1755052	1755052	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:1755052C>A	ENST00000397196.2	+	5	946	c.714C>A	c.(712-714)ttC>ttA	p.F238L	WNT5B_ENST00000542408.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.F238L|WNT5B_ENST00000310594.3_Missense_Mutation_p.F238L|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	238					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGGCCGAGTTCCGCAAGGTCG	0.657000													6	83					0.0215528	0.0218729	1	1	0
NLRP2	55655	broad.mit.edu	37	19	55494936	55494936	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:55494936C>G	ENST00000543010.1	+	6	2013	c.1870C>G	c.(1870-1872)Cag>Gag	p.Q624E	NLRP2_ENST00000339757.7_Missense_Mutation_p.Q602E|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q602E|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q600E|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q601E|NLRP2_ENST00000263437.6_Missense_Mutation_p.Q621E|NLRP2_ENST00000448584.2_Missense_Mutation_p.Q624E|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q600E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	624					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGTGATGGCTCAGTTCAAAGA	0.502000													45	24					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19194874	19194874	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:19194874C>T	ENST00000562034.1	+	3	3971	c.173C>T	c.(172-174)tCt>tTt	p.S58F	SYT17_ENST00000562711.2_Missense_Mutation_p.S115F|SYT17_ENST00000355377.2_Missense_Mutation_p.S119F|SYT17_ENST00000568115.1_Missense_Mutation_p.S58F			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	119						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGTCCCAGCTCTCCACTCATC	0.532000													5	98					0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112838068	112838068	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr10:112838068C>T	ENST00000280155.2	+	1	1279	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	90					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	ATCCCTTTCTCGCTGGCCAAC	0.632000													5	27					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64608152	64608152	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:64608152G>A	ENST00000371079.1	+	7	1368	c.993G>A	c.(991-993)ggG>ggA	p.G331G	ROR1_ENST00000371080.1_Silent_p.G331G|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	331	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAAATCAGGGCGCCAGTGCC	0.512000													4	68					0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160888609	160888609	+	RNA	SNP	A	A	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr6:160888609A>T	ENST00000335388.5	-	0	1647					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAACCTGGATAACAGTCGGAG	0.512000													4	50					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371010	55371010	+	Silent	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:55371010G>C	ENST00000302231.4	-	1	864	c.840C>G	c.(838-840)ctC>ctG	p.L280L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGTGGATTGAGAAAGGGTG	0.398000													7	41					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8417613	8417613	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr4:8417613G>C	ENST00000356406.5	-	3	335	c.258C>G	c.(256-258)ttC>ttG	p.F86L	ACOX3_ENST00000503233.1_Missense_Mutation_p.F86L|ACOX3_ENST00000413009.2_Missense_Mutation_p.F86L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	86					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AGTCATACTCGAAGATCCGCT	0.532000													13	33					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74004182	74004182	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr7:74004182G>A	ENST00000476977.1	+	23	4014	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E775K|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E790K|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E807K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	790						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCTTGTAGATGAAGATGACGC	0.552000													6	25					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95931032	95931032	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr10:95931032C>T	ENST00000371380.3	+	3	1823	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.Q530*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.Q222*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.Q222*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCCTCTCATCCAGTTCCCAGA	0.542000													4	74					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256719	77256719	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr7:77256719C>A	ENST00000248594.6	+	13	1995	c.1723C>A	c.(1723-1725)Caa>Aaa	p.Q575K	PTPN12_ENST00000435495.2_Missense_Mutation_p.Q445K|PTPN12_ENST00000415482.2_Missense_Mutation_p.Q456K	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	575						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCCTACAACACAAGTTGAAAC	0.398000													8	163					3.09899e-07	3.49062e-07	1	1	0
PFKFB4	5210	broad.mit.edu	37	3	48573773	48573773	+	Silent	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr3:48573773G>T	ENST00000232375.3	-	8	868	c.756C>A	c.(754-756)atC>atA	p.I252I	PFKFB4_ENST00000536104.1_Silent_p.I241I|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000383734.2_Silent_p.I252I|PFKFB4_ENST00000416568.1_Silent_p.I252I|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Silent_p.I218I	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	252	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGCAGAGGTAGATGGAGCGGG	0.627000													8	108					0.00307968	0.00320474	1	1	0
TENM1	10178	broad.mit.edu	37	X	123637419	123637419	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chrX:123637419G>A	ENST00000422452.2	-	19	3499	c.3436C>T	c.(3436-3438)Cct>Tct	p.P1146S	TENM1_ENST00000371130.3_Missense_Mutation_p.P1146S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CCACTTTGAGGATTCAAAATG	0.333000													11	81					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74671095	74671095	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:74671095C>G	ENST00000609362.1	+	4	1401	c.1364C>G	c.(1363-1365)tCc>tGc	p.S455C	FPGT_ENST00000370898.3_Missense_Mutation_p.S468C|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.5_3'UTR|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.S201C	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTTGTATGTTCCTTAAGCTTA	0.388000													14	90					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119301414	119301414	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr6:119301414C>T	ENST00000338891.7	-	10	2633	c.2190G>A	c.(2188-2190)acG>acA	p.T730T	FAM184A_ENST00000352896.5_Silent_p.T610T|FAM184A_ENST00000368475.4_Silent_p.T610T|FAM184A_ENST00000521531.1_Silent_p.T730T|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	730								p.T730T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CAAGCTCTTGCGTAAGCCGCT	0.423000													5	58					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96783652	96783652	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:96783652C>T	ENST00000359933.4	-	20	3933	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1014										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCACTTTCCTCATCTATGAGA	0.318000													3	35					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79962978	79962978	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chrX:79962978C>T	ENST00000373275.4	-	22	2716	c.2500G>A	c.(2500-2502)Gac>Aac	p.D834N	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	834										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCGAAGCGTCACTTGTGCCA	0.343000													5	19					0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46701310	46701310	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:46701310G>A	ENST00000311956.4	-	11	1012	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	305	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TGTACTGGTCGAAATCCACAG	0.627000													4	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425410	179425410	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:179425410G>A	ENST00000589042.1	-	326	85673	c.85449C>T	c.(85447-85449)atC>atT	p.I28483I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I19543I|TTN_ENST00000460472.2_Silent_p.I19418I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.I19610I|TTN_ENST00000591111.1_Silent_p.I26842I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.I25915I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26842							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I19543I(1)|p.I25913I(1)|p.I19418I(1)|p.I19610I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAATAGTCGATATCTGCAC	0.458000													5	41					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93015519	93015519	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr15:93015519G>A	ENST00000333334.2	+	1	636	c.141G>A	c.(139-141)gcG>gcA	p.A47A	C15orf32_ENST00000556865.1_Silent_p.A47A	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	47										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTTTCTCGGCGAGGCCATGTG	0.527000													10	52					0	0	1	0	0
NUDT21	11051	broad.mit.edu	37	16	56466629	56466629	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:56466629T>C	ENST00000300291.5	-	7	851	c.679A>G	c.(679-681)Aac>Gac	p.N227D		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	227					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						GGAATTCAGTTGTAAATAAAA	0.308000													5	38					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65303745	65303745	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:65303745C>T	ENST00000524944.1	+	12	1624	c.1591C>T	c.(1591-1593)Cgg>Tgg	p.R531W	SCYL1_ENST00000525364.1_Missense_Mutation_p.R531W|SCYL1_ENST00000527009.1_Missense_Mutation_p.R388W|SCYL1_ENST00000533862.1_Missense_Mutation_p.R531W|SCYL1_ENST00000420247.2_Missense_Mutation_p.R531W|SCYL1_ENST00000270176.5_Missense_Mutation_p.R531W|SCYL1_ENST00000279270.6_Missense_Mutation_p.R531W			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	531					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CAAGGCCATTCGGAGCTTCCT	0.602000													4	45					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16362690	16362690	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:16362690T>G	ENST00000352083.6	-	2	182	c.105A>C	c.(103-105)caA>caC	p.Q35H	SOX6_ENST00000527619.1_Missense_Mutation_p.Q38H|SOX6_ENST00000396356.3_Missense_Mutation_p.Q35H|SOX6_ENST00000528252.1_Missense_Mutation_p.Q35H|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000316399.6_Missense_Mutation_p.Q35H|SOX6_ENST00000528429.1_Missense_Mutation_p.Q35H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	35					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGGCCACATGTTGATCACTGC	0.502000													8	75					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28338462	28338462	+	Silent	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr21:28338462G>C	ENST00000284987.5	-	1	370	c.249C>G	c.(247-249)ggC>ggG	p.G83G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	83					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCTTGCCGCCGCCGGAGTAGA	0.697000													5	85					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655653	55655653	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:55655653G>C	ENST00000449290.2	+	4	745	c.653G>C	c.(652-654)aGa>aCa	p.R218T	TRIM51_ENST00000244891.3_Missense_Mutation_p.R75T	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	218						intracellular	zinc ion binding										AGCAAAGCCAGAATGGAACAT	0.453000													6	34					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49165690	49165690	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:49165690G>C	ENST00000307885.4	-	18	3548	c.2854C>G	c.(2854-2856)Ctg>Gtg	p.L952V	ADCY6_ENST00000550422.1_Missense_Mutation_p.L899V|ADCY6_ENST00000357869.3_Missense_Mutation_p.L899V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	952					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCTTGGGCAGAATGTTATGC	0.577000													5	47					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67650756	67650756	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:67650756C>A	ENST00000264010.4	+	5	1505	c.1061C>A	c.(1060-1062)tCc>tAc	p.S354Y	CTCF_ENST00000401394.1_Missense_Mutation_p.S26Y	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	354					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.S354F(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTCAAGTGTTCCATGTGCGAT	0.453000													35	192					7.11191e-15	8.33109e-15	1	1	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													3	58					0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793763	17793763	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:17793763T>G	ENST00000379472.3	+	2	1152	c.1122T>G	c.(1120-1122)aaT>aaG	p.N374K	KCNC1_ENST00000265969.6_Missense_Mutation_p.N374K	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	374						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACAGCCCAATGACCCCAGCG	0.587000													6	51					0	0	1	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267541	66267541	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:66267541G>C	ENST00000327268.4	-	6	924	c.760C>G	c.(760-762)Cac>Gac	p.H254D	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.H254D	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	254						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGGTTAGTGTGAGTAGGCACA	0.488000													10	65					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:7578526C>T	ENST00000420246.2	-	5	536	c.404G>A	c.(403-405)tGc>tAc	p.C135Y	TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)		GGCCAGTTGGCAAAACATCTT	0.572000		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)			8	29					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	480497	480497	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr20:480497C>A	ENST00000217244.3	-	5	670	c.295G>T	c.(295-297)Gac>Tac	p.D99Y	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.D99Y|CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.D99Y	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	99	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTTACAATGTCTGCCAGTGTG	0.438000													6	195					1	1	1	1	0
MYOCD	93649	broad.mit.edu	37	17	12656531	12656531	+	Silent	SNP	T	T	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:12656531T>A	ENST00000425538.1	+	10	2126	c.1926T>A	c.(1924-1926)gcT>gcA	p.A642A	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.A546A|MYOCD_ENST00000343344.4_Silent_p.A642A	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	642					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGCTGGGGGCTGTGAAAAGCC	0.552000													4	91					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76521178	76521178	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:76521178G>A	ENST00000389840.5	-	25	3889	c.3765C>T	c.(3763-3765)ttC>ttT	p.F1255F	DNAH17_ENST00000585328.1_Silent_p.F1256F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGGGACCTCGAACAGGCCCC	0.637000													7	34					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286579	71286579	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:71286579C>T	ENST00000283228.2	-	2	689	c.237G>A	c.(235-237)caG>caA	p.Q79Q		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	79					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATTGACAATCTGGTGGCGTT	0.458000													12	96					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													8	35					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617376	158617376	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:158617376C>G	ENST00000368147.4	-	27	4029	c.3849G>C	c.(3847-3849)gaG>gaC	p.E1283D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTTAGGCTCTCCTTACGAT	0.542000													8	107					0	0	1	0	0
SLC39A6	25800	broad.mit.edu	37	18	33702200	33702200	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr18:33702200C>T	ENST00000269187.5	-	5	1387	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	SLC39A6_ENST00000440549.2_Missense_Mutation_p.E117K|SLC39A6_ENST00000590986.1_Missense_Mutation_p.E392K	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	392						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GCTGGTTCTTCATGGCTATGA	0.388000													12	82					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248604	94248604	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:94248604C>T	ENST00000515393.1	-	9	1427	c.1428G>A	c.(1426-1428)ttG>ttA	p.L476L	MCTP1_ENST00000312216.8_Silent_p.L255L|MCTP1_ENST00000429576.2_Silent_p.L209L|MCTP1_ENST00000505208.1_Silent_p.L255L|MCTP1_ENST00000505078.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	476	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCCCTTCAATCAAGGTGATGC	0.463000													10	101					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423017	26423017	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr22:26423017G>A	ENST00000335473.7	+	43	7327	c.7077G>A	c.(7075-7077)ccG>ccA	p.P2359P	MYO18B_ENST00000407587.2_Silent_p.P2360P|MYO18B_ENST00000536101.1_Silent_p.P2359P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2359						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AATCCAGACCGAGCATGGGGA	0.567000													10	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453414	179453414	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:179453414A>G	ENST00000589042.1	-	304	63262	c.63038T>C	c.(63037-63039)gTc>gCc	p.V21013A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V12073A|TTN_ENST00000460472.2_Missense_Mutation_p.V11948A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V12140A|TTN_ENST00000591111.1_Missense_Mutation_p.V19372A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V18445A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19372	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTTGTTGACAGGGACCCA	0.413000													25	108					0	0	1	0	0
LYSMD1	388695	broad.mit.edu	37	1	151134552	151134552	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:151134552G>A	ENST00000368908.5	-	2	865	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LYSMD1_ENST00000440902.2_Missense_Mutation_p.R21C	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	69					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTATAAAGGCGGTTTGCACGT	0.388000													4	72					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320317	38320317	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr13:38320317G>A	ENST00000379705.3	-	3	1511	c.654C>T	c.(652-654)ctC>ctT	p.L218L	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Silent_p.L218L|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000447043.1_Silent_p.L218L|TRPC4_ENST00000379681.3_Silent_p.L218L|TRPC4_ENST00000358477.2_Silent_p.L218L|TRPC4_ENST00000426868.2_Silent_p.L218L|TRPC4_ENST00000355779.2_Silent_p.L218L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	218					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GAAAGGCTGTGAGAAAAGGAT	0.488000													5	77					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157815934	157815934	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr3:157815934G>A	ENST00000490689.2	-	5	1988	c.455C>T	c.(454-456)tCg>tTg	p.S152L	SHOX2_ENST00000389589.4_Missense_Mutation_p.S317L|SHOX2_ENST00000441443.2_Missense_Mutation_p.S152L|SHOX2_ENST00000425436.3_Missense_Mutation_p.S293L|SHOX2_ENST00000483851.2_Missense_Mutation_p.S281L			O60902	SHOX2_HUMAN	short stature homeobox 2	293					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGCGGAAGCCGAATCCGCGGC	0.677000													42	135					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916737	149916737	+	Silent	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:149916737G>C	ENST00000369135.4	-	12	1845	c.1551C>G	c.(1549-1551)ctC>ctG	p.L517L		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGTTCTTCTTGAGCTTGCTGC	0.552000													42	116					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35624514	35624514	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr8:35624514C>A	ENST00000287272.2	+	14	2221	c.2201C>A	c.(2200-2202)tCc>tAc	p.S734Y	UNC5D_ENST00000420357.1_Missense_Mutation_p.S736Y|UNC5D_ENST00000449677.1_Missense_Mutation_p.S379Y|UNC5D_ENST00000404895.2_Missense_Mutation_p.S803Y|UNC5D_ENST00000453357.2_Missense_Mutation_p.S798Y|UNC5D_ENST00000416672.1_Missense_Mutation_p.S808Y			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	803					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCAGCTGTCCTGCAAAATC	0.557000													6	46					3.59834e-05	3.90296e-05	1	1	0
PPP1R9A	55607	broad.mit.edu	37	7	94540569	94540569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr7:94540569G>T	ENST00000289495.5	+	1	1360	c.1144G>T	c.(1144-1146)Gaa>Taa	p.E382*	PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E382*|PPP1R9A_ENST00000433881.1_Nonsense_Mutation_p.E382*	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	382						cell junction|synapse|synaptosome	actin binding	p.E382*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTGTGGAAAAGAAGTACCTGA	0.433000										HNSCC(28;0.073)			4	52					0.00909568	0.00932307	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35624515	35624515	+	Silent	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr8:35624515C>A	ENST00000287272.2	+	14	2222	c.2202C>A	c.(2200-2202)tcC>tcA	p.S734S	UNC5D_ENST00000420357.1_Silent_p.S736S|UNC5D_ENST00000449677.1_Silent_p.S379S|UNC5D_ENST00000404895.2_Silent_p.S803S|UNC5D_ENST00000453357.2_Silent_p.S798S|UNC5D_ENST00000416672.1_Silent_p.S808S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	803					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCAGCTGTCCTGCAAAATCT	0.557000													6	44					3.59834e-05	3.90296e-05	1	1	0
WFS1	7466	broad.mit.edu	37	4	6302786	6302786	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr4:6302786G>A	ENST00000226760.1	+	8	1434	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	WFS1_ENST00000503569.1_Missense_Mutation_p.A422T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	422					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CTTCCCCATCGCCAGCAAGGA	0.592000													16	104					0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599168	151599168	+	Silent	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr3:151599168G>T	ENST00000362032.5	+	3	942	c.837G>T	c.(835-837)gtG>gtT	p.V279V	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTTACATTGTGACACGGCCTT	0.483000													12	125					1.08611e-07	1.23012e-07	1	1	0
COMMD1	150684	broad.mit.edu	37	2	62228000	62228000	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:62228000G>T	ENST00000311832.5	+	2	377	c.345G>T	c.(343-345)tgG>tgT	p.W115C	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Missense_Mutation_p.W115C	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	115					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGAGCCGCTGGAATAGCGGGC	0.507000													14	194					1.5842e-08	1.81431e-08	1	1	0
OR5B2	390190	broad.mit.edu	37	11	58189967	58189967	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:58189967G>C	ENST00000302581.2	-	1	819	c.768C>G	c.(766-768)atC>atG	p.I256M		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCAAGTAGATGAAGATTA	0.493000													3	49					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501940	55501940	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:55501940C>G	ENST00000543010.1	+	10	2751	c.2608C>G	c.(2608-2610)Ctg>Gtg	p.L870V	NLRP2_ENST00000339757.7_Missense_Mutation_p.L848V|NLRP2_ENST00000537859.1_Missense_Mutation_p.L848V|NLRP2_ENST00000391721.4_Missense_Mutation_p.L846V|NLRP2_ENST00000427260.2_Missense_Mutation_p.L847V|NLRP2_ENST00000263437.6_Missense_Mutation_p.L867V|NLRP2_ENST00000448584.2_Missense_Mutation_p.L870V|NLRP2_ENST00000538819.1_Missense_Mutation_p.L846V	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	870					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGCCGGGAGCTGACACACCT	0.507000													8	210					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013227	51013227	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr18:51013227C>T	ENST00000442544.2	+	26	4413	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	DCC_ENST00000581580.1_Missense_Mutation_p.P901L|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1266					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAATCCTCCCGTCTCCCACC	0.547000													6	69					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034046	79034046	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:79034046C>T	ENST00000446378.2	+	2	9489	c.9458C>T	c.(9457-9459)cCg>cTg	p.P3153L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3153						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)		TCAAAGTCACCGGGGATGCCT	0.438000													3	31					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118896003	118896003	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr10:118896003G>T	ENST00000277905.2	-	2	653	c.409C>A	c.(409-411)Ctt>Att	p.L137I	VAX1_ENST00000369206.5_Missense_Mutation_p.L137I	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	137						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GAGAGGTTAAGCTGCCGGGCG	0.662000													4	21					1.23904e-05	1.35831e-05	1	1	0
SALL1	6299	broad.mit.edu	37	16	51173340	51173340	+	Silent	SNP	C	C	T	rs147312225		TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:51173340C>T	ENST00000440970.1	-	2	2933	c.2502G>A	c.(2500-2502)ccG>ccA	p.P834P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P931P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	931					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTGTTGGACGGGGACAGAG	0.557000													4	36					0	0	1	0	0
GLRX2	51022	broad.mit.edu	37	1	193070330	193070330	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:193070330C>G	ENST00000367440.3	-	2	602	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	GLRX2_ENST00000367439.3_Missense_Mutation_p.E42Q|GLRX2_ENST00000472197.1_5'UTR	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	42					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	GTATTGCTCTCCATCCTAAAA	0.338000													3	30					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75714955	75714955	+	Missense_Mutation	SNP	T	T	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr15:75714955T>A	ENST00000567289.1	-	3	673	c.399A>T	c.(397-399)aaA>aaT	p.K133N	SIN3A_ENST00000394947.3_Intron|SIN3A_ENST00000394949.4_Intron|SIN3A_ENST00000360439.4_Intron			Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	520	Interaction with HCFC1.|PAH 1.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TAAAGATAAATTTTTTGACCC	0.443000													9	44					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	16					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37916781	37916781	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:37916781C>G	ENST00000316950.6	-	5	784	c.227G>C	c.(226-228)aGa>aCa	p.R76T	ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Missense_Mutation_p.R100T|ZNF569_ENST00000392149.2_Missense_Mutation_p.R76T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGCCAGTGTCTCCTTAATAC	0.433000													14	394					0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5603794	5603794	+	Silent	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:5603794G>C	ENST00000423158.3	+	2	665	c.453G>C	c.(451-453)cgG>cgC	p.R151R	NTF3_ENST00000331010.6_Silent_p.R138R|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	138					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGCGGAAACGGTACGCGGAGC	0.602000													4	108					0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71822615	71822615	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr18:71822615G>C	ENST00000580087.1	+	3	725	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	TIMM21_ENST00000169551.6_Missense_Mutation_p.E147Q			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	147					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											GAGAGCCTTAGAAAAATGCAG	0.403000													8	34					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23528368	23528368	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:23528368C>T	ENST00000262710.1	-	19	4342	c.4015G>A	c.(4015-4017)Ggg>Agg	p.G1339R	ACIN1_ENST00000338631.6_Missense_Mutation_p.G612R|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1326R|ACIN1_ENST00000397341.3_Missense_Mutation_p.G581R|ACIN1_ENST00000357481.2_Missense_Mutation_p.G581R|ACIN1_ENST00000605057.1_Missense_Mutation_p.G1281R|ACIN1_ENST00000557515.1_Missense_Mutation_p.G580R|ACIN1_ENST00000457657.1_Missense_Mutation_p.G1299R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1339	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TAGCGGCGCCCACCCCGGTCC	0.647000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	58					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49422666	49422666	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:49422666T>C	ENST00000301067.7	-	45	14326	c.14327A>G	c.(14326-14328)aAg>aGg	p.K4776R		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCTTTGCCCTTTTCCCAAGT	0.537000													3	77					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8499661	8499661	+	Missense_Mutation	SNP	G	G	T	rs142331255		TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr9:8499661G>T	ENST00000381196.4	-	22	2851	c.2308C>A	c.(2308-2310)Ctg>Atg	p.L770M	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L770M|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L757M|PTPRD_ENST00000358503.5_Missense_Mutation_p.L757M|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L770M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	770	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCATCAGCCAGCATGACATCT	0.398000										TSP Lung(15;0.13)			7	184					8.12818e-05	8.67853e-05	1	1	0
OR2M3	127062	broad.mit.edu	37	1	248366468	248366468	+	Silent	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:248366468C>A	ENST00000456743.1	+	1	137	c.99C>A	c.(97-99)gcC>gcA	p.A33A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGTCCTGGCCATCTTTTCAG	0.532000													29	190					1.39806e-14	1.62842e-14	1	1	0
MYH11	4629	broad.mit.edu	37	16	15853444	15853444	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:15853444C>G	ENST00000452625.2	-	13	1498	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	MYH11_ENST00000396324.3_Missense_Mutation_p.E471Q|MYH11_ENST00000576790.2_Missense_Mutation_p.E464Q|MYH11_ENST00000300036.5_Missense_Mutation_p.E464Q	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	464	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCAAAGATCTCAAATCCAGCT	0.522000			T	CBFB	AML								13	110					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64029114	64029114	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:64029114C>T	ENST00000540288.1	+	16	1993	c.1890C>T	c.(1888-1890)acC>acT	p.T630T	PLCB3_ENST00000279230.6_Silent_p.T630T|PLCB3_ENST00000325234.5_Silent_p.T563T	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	630	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGCAACTGACCAAGAGCCCCA	0.602000													10	57					0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35227931	35227931	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr14:35227931C>T	ENST00000360310.1	-	25	4932	c.4365G>A	c.(4363-4365)ttG>ttA	p.L1455L	BAZ1A_ENST00000382422.2_Silent_p.L1455L|BAZ1A_ENST00000358716.4_Silent_p.L1423L	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1455	Bromo.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAACAAGTTTCAAAAAAGGCC	0.373000													4	51					0	0	1	0	0
COMMD1	150684	broad.mit.edu	37	2	62227985	62227985	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:62227985G>T	ENST00000311832.5	+	2	362	c.330G>T	c.(328-330)atG>atT	p.M110I	COMMD1_ENST00000472729.1_3'UTR|COMMD1_ENST00000538736.1_Missense_Mutation_p.M110I	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	110					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			AGAGCCTCATGAACCAGAGCC	0.512000													13	197					7.03913e-09	8.10686e-09	1	1	0
PFKFB4	5210	broad.mit.edu	37	3	48573803	48573803	+	Silent	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr3:48573803G>C	ENST00000232375.3	-	8	838	c.726C>G	c.(724-726)ctC>ctG	p.L242L	PFKFB4_ENST00000536104.1_Silent_p.L231L|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000383734.2_Silent_p.L242L|PFKFB4_ENST00000416568.1_Silent_p.L242L|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Silent_p.L208L	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	242	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGATGTTCATGAGGTAATATA	0.597000													6	125					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779844	142779844	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:142779844G>T	ENST00000343796.2	-	2	1554	c.561C>A	c.(559-561)gaC>gaA	p.D187E	NR3C1_ENST00000394464.2_Missense_Mutation_p.D187E|NR3C1_ENST00000394466.2_Missense_Mutation_p.D187E|NR3C1_ENST00000424646.2_Missense_Mutation_p.D187E|NR3C1_ENST00000504572.1_Missense_Mutation_p.D187E|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Missense_Mutation_p.D187E|NR3C1_ENST00000231509.3_Missense_Mutation_p.D187E|NR3C1_ENST00000503201.1_Missense_Mutation_p.D187E	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	187	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGGTGCTTTGGTCTGTGGTAT	0.448000													8	45					5.4927e-09	6.36161e-09	1	1	0
IGLV4-3	28786	broad.mit.edu	37	22	23214093	23214093	+	RNA	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr22:23214093C>T	ENST00000390318.2	+	0	282																											GATCCCCGATCGCTTCATGGG	0.557000													6	70					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759394	54759394	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:54759394C>G	ENST00000450632.1	-	5	757	c.680G>C	c.(679-681)cGc>cCc	p.R227P	LILRB5_ENST00000345866.6_Missense_Mutation_p.R136P|LILRB5_ENST00000316219.5_Missense_Mutation_p.R236P|LILRB5_ENST00000449561.2_Missense_Mutation_p.R236P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	236	Ig-like C2-type 2.|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGCCTCCGCGGGCCACGAC	0.622000													4	52					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43613176	43613176	+	Silent	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:43613176T>C	ENST00000264663.5	+	3	539	c.318T>C	c.(316-318)taT>taC	p.Y106Y	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.Y106Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	106					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATGATCACTATAGAGTGGCAG	0.478000													12	87					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36223404	36223404	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:36223404G>C	ENST00000222270.7	+	28	5954	c.5954G>C	c.(5953-5955)gGa>gCa	p.G1985A	KMT2B_ENST00000420124.1_Missense_Mutation_p.G1985A|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GTGGTGTCAGGACTGAGTGCT	0.667000													5	36					0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79951411	79951411	+	Silent	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chrX:79951411C>T	ENST00000373275.4	-	27	3363	c.3147G>A	c.(3145-3147)caG>caA	p.Q1049Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1049										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTTACCAATCTGCCAGTTCC	0.308000													4	21					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179226525	179226525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:179226525C>T	ENST00000190611.4	+	13	1646	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.R449*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.R424*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.R424*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.R428*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.R393*|OSBPL6_ENST00000357080.4_Nonsense_Mutation_p.R393*	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	424					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GGCACGGCTCCGACAGTCACT	0.498000													3	31					0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77300466	77300466	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr9:77300466G>A	ENST00000376896.3	+	10	1924	c.1312G>A	c.(1312-1314)Gtg>Atg	p.V438M	RORB_ENST00000396204.2_Missense_Mutation_p.V449M	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCAGAGATAGTGAATACACT	0.468000													4	102					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127978845	127978845	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr7:127978845T>C	ENST00000223073.2	-	4	497	c.383A>G	c.(382-384)gAt>gGt	p.D128G	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 2.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCAAGTCATCTTCTGAACA	0.338000													4	84					0	0	1	0	0
DNAJC12	56521	broad.mit.edu	37	10	69571357	69571357	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr10:69571357G>A	ENST00000225171.2	-	3	374	c.222C>T	c.(220-222)cgC>cgT	p.R74R	DNAJC12_ENST00000483798.2_Silent_p.R104R|DNAJC12_ENST00000339758.7_Silent_p.R74R	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	74	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AGTGGTCATAGCGGGCTCGAC	0.502000													4	75					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685222	248685222	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:248685222T>C	ENST00000343414.4	+	1	307	c.275T>C	c.(274-276)aTg>aCg	p.M92T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACAAAACCATGAGCTACGGT	0.517000													3	81					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117909092	117909092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr12:117909092C>T	ENST00000425217.1	-	18	2583	c.2529G>A	c.(2527-2529)tgG>tgA	p.W843*	KSR2_ENST00000339824.5_Nonsense_Mutation_p.W872*|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	872	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTTGAAAGGCCATTCCCTGG	0.493000													6	30					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112860856	112860856	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:112860856G>T	ENST00000161863.4	+	3	670	c.457G>T	c.(457-459)Gtg>Ttg	p.V153L	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V153L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	153							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AAGAGGAAATGTGTTTGCAGT	0.353000													9	58					0.000442599	0.000465297	1	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	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													4	83					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605691	1605691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:1605691G>T	ENST00000382171.2	-	1	822	c.789C>A	c.(787-789)tgC>tgA	p.C263*	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	263	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGACTGGGAGCAGCAGGGCT	0.587000													6	110					0.217242	0.219383	1	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53721857	53721857	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:53721857C>G	ENST00000262135.4	-	5	643	c.550G>C	c.(550-552)Gat>Cat	p.D184H	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D184H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D184H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D184H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	184					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTGCTACATCTGCATCTTGG	0.294000													7	143					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25982412	25982412	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:25982412G>T	ENST00000435504.4	-	9	1171	c.878C>A	c.(877-879)tCa>tAa	p.S293*	ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S33*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S33*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S265*			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGGACTGAAAATGTGTG	0.423000													9	82					0.000274275	0.000291329	1	1	0
SFI1	9814	broad.mit.edu	37	22	32013036	32013036	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr22:32013036C>T	ENST00000432498.1	+	30	3784	c.3391C>T	c.(3391-3393)Cac>Tac	p.H1131Y	SFI1_ENST00000400288.2_Missense_Mutation_p.H1162Y|SFI1_ENST00000474741.1_Intron|SFI1_ENST00000414585.1_Silent_p.C1007C|SFI1_ENST00000400289.1_Missense_Mutation_p.H1080Y|SFI1_ENST00000443326.1_Missense_Mutation_p.H1080Y|SFI1_ENST00000540643.1_Missense_Mutation_p.H1107Y|SFI1_ENST00000443011.1_Missense_Mutation_p.H1009Y	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1162					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCAACTACTGCACTACCAGAC	0.577000													8	21					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58471341	58471341	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr15:58471341G>C	ENST00000219919.4	+	5	880	c.510G>C	c.(508-510)atG>atC	p.M170I	AQP9_ENST00000536493.1_Missense_Mutation_p.M170I|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.M105I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	170					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TGGCCACCATGATACTCCTCA	0.498000													6	29					0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141382774	141382774	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:141382774G>C	ENST00000508177.1	-	5	1406	c.648C>G	c.(646-648)atC>atG	p.I216M	GNPDA1_ENST00000500692.2_Missense_Mutation_p.I216M|GNPDA1_ENST00000311337.6_Missense_Mutation_p.I216M|GNPDA1_ENST00000513454.1_Missense_Mutation_p.I216M|GNPDA1_ENST00000458112.2_Missense_Mutation_p.I182M|GNPDA1_ENST00000542860.1_Missense_Mutation_p.I139M|GNPDA1_ENST00000503794.1_Missense_Mutation_p.I216M			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	216					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCCTCCTCGATGGCCTTGT	0.537000													4	32					0	0	1	0	0
BCAP29	55973	broad.mit.edu	37	7	107258786	107258786	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr7:107258786G>C	ENST00000379119.2	+	8	797	c.783G>C	c.(781-783)aaG>aaC	p.K261N	BCAP29_ENST00000445771.2_Missense_Mutation_p.K261N|BCAP29_ENST00000465919.1_Missense_Mutation_p.R141T|BCAP29_ENST00000005259.4_Missense_Mutation_p.R235T|BCAP29_ENST00000379117.2_Missense_Mutation_p.R235T|BCAP29_ENST00000494086.1_3'UTR	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	181					apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		p.K261N(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						CGTTTAGAAAGAGGCAACAAG	0.299000													17	100					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66618633	66618633	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:66618633C>T	ENST00000393960.1	-	17	2382	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	PC_ENST00000393955.2_Missense_Mutation_p.E701K|PC_ENST00000393958.2_Missense_Mutation_p.E701K	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	701	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATGGCAGCCTCCACCACGCCT	0.607000													23	59					0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916098	149916098	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:149916098G>A	ENST00000369135.4	-	12	2484	c.2190C>T	c.(2188-2190)ttC>ttT	p.F730F		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			ACTGTCTGGGGAAGGTGGCAT	0.657000													16	30					0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12653521	12653521	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr3:12653521A>G	ENST00000251849.4	-	3	687	c.248T>C	c.(247-249)aTg>aCg	p.M83T	RAF1_ENST00000442415.2_Missense_Mutation_p.M83T|RAF1_ENST00000542177.1_Intron	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	83	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GAGTGCTTTCATAAGGCAGTC	0.493000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				10	96					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159206349	159206349	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr6:159206349G>A	ENST00000367075.3	-	5	627	c.459C>T	c.(457-459)atC>atT	p.I153I	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Silent_p.I121I|EZR_ENST00000337147.7_Silent_p.I153I	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	153	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACCTTTGAGGGATCAGCCGCT	0.557000			T	ROS1	NSCLC								9	47					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101824949	101824949	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr10:101824949T>C	ENST00000370418.3	-	4	1006	c.755A>G	c.(754-756)cAg>cGg	p.Q252R		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	252	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACATACCTTCTGGAAGAGCTT	0.607000													9	61					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50947753	50947753	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr10:50947753C>T	ENST00000374103.4	-	17	2358	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.R549Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.R701Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	758					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCCATTATGCCGCACCCACTT	0.627000													4	37					0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472959	44472959	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr20:44472959G>A	ENST00000217455.4	-	4	679	c.589C>T	c.(589-591)Cag>Tag	p.Q197*		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	197					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTCTGCAGCTGGCTCAGGGGG	0.562000													7	49					0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42211787	42211787	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr15:42211787G>A	ENST00000220325.4	-	4	628	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	182					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CACCCTCTCGGCAAACCACTG	0.572000													6	25					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196642693	196642693	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr2:196642693G>A	ENST00000312428.6	-	59	10995	c.10895C>T	c.(10894-10896)gCt>gTt	p.A3632V	DNAH7_ENST00000409063.1_Missense_Mutation_p.A115V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3632					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTACCGCAGAGCCTCATACGG	0.453000													10	36					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45811970	45811970	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr20:45811970G>C	ENST00000327619.5	+	15	1841	c.1467G>C	c.(1465-1467)caG>caC	p.Q489H	EYA2_ENST00000317304.6_Missense_Mutation_p.Q459H|EYA2_ENST00000357410.3_Missense_Mutation_p.Q410H	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	489					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGATAATGCAGAGATTCGGCA	0.522000													6	86					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767265	105767265	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr9:105767265G>T	ENST00000374798.3	+	5	422	c.352G>T	c.(352-354)Ggt>Tgt	p.G118C	CYLC2_ENST00000487798.1_Missense_Mutation_p.G118C	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	118	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGGTAAGAAAGGTGAAGACAA	0.299000													3	52					2.56e-06	2.83676e-06	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144886194	144886194	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr1:144886194G>A	ENST00000369359.4	-	26	3489	c.3451C>T	c.(3451-3453)Cac>Tac	p.H1151Y	PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H1014Y|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H1014Y|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H1080Y|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H1151Y			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1014					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGTGCTGGTGGAACTCAGCC	0.512000			T	PDGFRB	MPD								23	229					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915552	46915552	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:46915552G>A	ENST00000307522.3	-	1	1289	c.516C>T	c.(514-516)cgC>cgT	p.R172R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	172						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCAGGTTGACGCGGCGGCGGG	0.657000													8	36					0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11505035	11505035	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr10:11505035G>A	ENST00000609104.1	-	15	2286	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	USP6NL_ENST00000277575.5_Missense_Mutation_p.S648F|USP6NL_ENST00000379237.2_Missense_Mutation_p.S654F	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATTGCTGTAGGAGGGGGGATG	0.517000													3	29					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102920438	102920438	+	RNA	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr7:102920438C>A	ENST00000312132.4	-	0	419																											GATTTGGGATCCTCCCCGGGG	0.672000													6	23					8.12818e-05	8.67853e-05	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76420105	76420105	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:76420105C>A	ENST00000389840.5	-	81	13464	c.13340G>T	c.(13339-13341)tGt>tTt	p.C4447F	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.C4419F|PGS1_ENST00000262764.6_Intron|PGS1_ENST00000588281.1_Intron|PGS1_ENST00000329897.7_Intron					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTACACGGGACACTCATAGAT	0.562000													6	119					0.248553	0.249771	1	1	0
CSTB	1476	broad.mit.edu	37	21	45194157	45194157	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr21:45194157G>A	ENST00000291568.5	-	3	398	c.223C>T	c.(223-225)Cat>Tat	p.H75Y		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	75						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TTGTTTTCATGAGGGAGAGAT	0.522000													14	68					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123935999	123935999	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr9:123935999G>A	ENST00000373855.1	+	42	6991	c.6731G>A	c.(6730-6732)cGg>cAg	p.R2244Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.R1692Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2244Q|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	2244	Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CTGCGTCACCGGGAAGACCGA	0.463000													11	116					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916238	72916238	+	Silent	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr17:72916238G>A	ENST00000319642.1	-	2	875	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	231					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGAGACCTTGAAGGTGCCTT	0.672000													9	60					0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34118842	34118842	+	Splice_Site	SNP	G	G	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:34118842G>A	ENST00000341394.4	+	17	2189	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	CAPRIN1_ENST00000532820.1_Splice_Site_p.R667Q|CAPRIN1_ENST00000389645.3_Splice_Site_p.R667Q|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000529307.1_Splice_Site_p.R586Q|CAPRIN1_ENST00000530820.1_Splice_Site_p.R667Q	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	667					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGCTATCAACGGGTAGGTAAA	0.408000													5	32					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691292	39691292	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:39691292C>T	ENST00000339852.4	+	6	746	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	242	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TCCCGGTGTGCGCTTTATCCA	0.622000													7	154					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16362692	16362692	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr11:16362692G>T	ENST00000352083.6	-	2	180	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	SOX6_ENST00000527619.1_Missense_Mutation_p.Q38K|SOX6_ENST00000396356.3_Missense_Mutation_p.Q35K|SOX6_ENST00000528252.1_Missense_Mutation_p.Q35K|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000316399.6_Missense_Mutation_p.Q35K|SOX6_ENST00000528429.1_Missense_Mutation_p.Q35K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	35					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCCACATGTTGATCACTGCCC	0.502000													8	73					7.48243e-07	8.38196e-07	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40121623	40121627	+	Frame_Shift_Del	DEL	AGTTC	AGTTC	-			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr4:40121623_40121627delAGTTC	ENST00000261435.6	+	9	2308_2312	c.1892_1896delAGTTC	c.(1891-1896)gagttcfs	p.EF631fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	631						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AAGCATCTAGAGTTCACTGAAGAGA	0.293													12	99	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16701104	16701104	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr5:16701104delA	ENST00000513610.1	-	25	3854	c.3400delT	c.(3400-3402)tacfs	p.Y1134fs	MYO10_ENST00000274203.9_Frame_Shift_Del_p.Y491fs|MYO10_ENST00000505695.1_Frame_Shift_Del_p.Y473fs|MYO10_ENST00000427430.2_Frame_Shift_Del_p.Y491fs|MYO10_ENST00000515803.1_Frame_Shift_Del_p.Y473fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1134					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTGAACCGGTAGGCACCCGAG	0.632													2	4	---	---	---	---					
CAPN15	6650	broad.mit.edu	37	16	602999	603001	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr16:602999_603001delGCG	ENST00000219611.2	+	13	3404_3406	c.3041_3043delGCG	c.(3040-3045)cgcggc>cgc	p.G1015del	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GTGTCCACACGCGGCAGCCTGCG	0.700													9	32	---	---	---	---					
NLRP9	338321	broad.mit.edu	37	19	56249721	56249722	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr19:56249721_56249722insA	ENST00000332836.2	-	1	46_47	c.19_20insT	c.(19-21)tcgfs	p.S7fs		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	7	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCAAAATCCGAAAAAAAAGAT	0.396													7	405	---	---	---	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													7	75	---	---	---	---					
CXorf56	63932	broad.mit.edu	37	X	118694308	118694310	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-GU-A764-01A-11D-A34U-08	TCGA-GU-A764-10B-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d311f078-9a80-41e0-9de4-f4f1ef6ff71f	8467da3c-70d5-4079-891e-aaed51a2c620	g.chrX:118694308_118694310delCCG	ENST00000320339.4	-	2	287_289	c.16_18delCGG	c.(16-18)cggdel	p.R6del	CXorf56_ENST00000371594.4_In_Frame_Del_p.R55del|CXorf56_ENST00000536133.1_In_Frame_Del_p.R55del	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	55							protein binding			cervix(1)|endometrium(2)|lung(7)	10						TCACACGGGACCGGTCCCGGGGC	0.478													22	52	---	---	---	---