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
IPO11	51194	broad.mit.edu	37	5	61733126	61733126	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:61733126G>T	ENST00000325324.6	+	2	189	c.20G>T	c.(19-21)aGc>aTc	p.S7I	IPO11_ENST00000409296.3_Missense_Mutation_p.S47I|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	7						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AATAGTGCCAGCACTGTTGTT	0.403000													38	7					1.57019e-19	1.73768e-19	1	1	0
CALR	811	broad.mit.edu	37	19	13049506	13049506	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:13049506G>A	ENST00000316448.5	+	1	86	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	5					cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCTATCCGTGCCGCTGCT	0.711000											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	10					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772258	4772258	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:4772258G>A	ENST00000378191.4	+	2	709	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	AJAP1_ENST00000378190.3_Missense_Mutation_p.A110T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	110					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCAGGCGGCCGCCCTCGTGCC	0.736000													12	3					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480144	10480144	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:10480144G>C	ENST00000382483.3	-	2	791	c.568C>G	c.(568-570)Cgc>Ggc	p.R190G	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	190					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGAAAGCGCAGGAGATCT	0.512000													111	81					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913126	60913126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr20:60913126C>A	ENST00000252999.3	-	14	1903	c.1837G>T	c.(1837-1839)Gga>Tga	p.G613*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	613	Laminin EGF-like 6.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATGAGGTCCAGCAAACTCA	0.652000													42	13					4.44401e-20	4.9845e-20	1	1	0
NKAPL	222698	broad.mit.edu	37	6	28227369	28227369	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:28227369C>T	ENST00000343684.3	+	1	272	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTCGCGAGGGCGGCTCCCAAG	0.612000													54	27					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148015	67148015	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:67148015C>T	ENST00000371037.4	+	15	1355	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P430P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	426	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTCGTCCCCCGGACCTGGCT	0.562000													158	154					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72204835	72204835	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr13:72204835C>G	ENST00000305425.4	-	3	1407	c.985G>C	c.(985-987)Gct>Cct	p.A329P	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.A329P|DACH1_ENST00000313174.7_Missense_Mutation_p.A329P	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	327	Interaction with SIX6 and HDAC3 (By similarity).|Poly-Ala.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		gctgctgcagcggctgcTGTC	0.358000													42	82					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70148385	70148385	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:70148385C>T	ENST00000374299.3	-	4	772	c.628G>A	c.(628-630)Gtt>Att	p.V210I	SLC7A3_ENST00000298085.4_Missense_Mutation_p.V210I			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	210					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCCCCTTAACGAAGCCAGAG	0.507000													9	6					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2021507	2021507	+	Silent	SNP	C	C	T	rs144735881		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:2021507C>T	ENST00000262113.4	+	10	1188	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	349	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACAAGGACGACGAGGGCCTGT	0.607000													48	25					0	0	1	0	0
GLUD1P2	0	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													3	22					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671536	7671536	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7671536A>G	ENST00000572933.1	+	24	5352	c.3892A>G	c.(3892-3894)Agg>Ggg	p.R1298G	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1298G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1298	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGTTCAAGAGGACCATGCC	0.572000													118	85					0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31669903	31669903	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31669903G>C	ENST00000395952.3	-	2	299	c.137C>G	c.(136-138)aCg>aGg	p.T46R	ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000440843.2_Intron|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	46						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGATAGTACGTATCCTGCCA	0.557000													11	50					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22161313	22161313	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:22161313C>T	ENST00000374695.3	-	77	10658	c.10579G>A	c.(10579-10581)Ggg>Agg	p.G3527R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3527	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGCAGGTGCCCTCCAACTTTG	0.637000													35	41					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76091051	76091051	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr14:76091051G>A	ENST00000238667.4	+	3	1264	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98Q|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51Q	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	303					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCATCGCCCGGCTCTTCAAA	0.483000													83	2					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307309	14307309	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr9:14307309G>A	ENST00000380959.3	-	2	714	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIB_ENST00000380934.4_Missense_Mutation_p.R107C|NFIB_ENST00000380953.1_Missense_Mutation_p.R81C|NFIB_ENST00000380921.3_Missense_Mutation_p.R81C|NFIB_ENST00000397579.2_Missense_Mutation_p.R81C|NFIB_ENST00000397575.3_Missense_Mutation_p.R81C|NFIB_ENST00000397581.2_Missense_Mutation_p.R81C	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	81					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.R81C(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATATCTTTGCGCAGTTTGGCA	0.493000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								32	7					0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15978005	15978005	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:15978005C>T	ENST00000255759.6	-	2	115	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573396.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573429.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573968.1_Missense_Mutation_p.R29Q	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	29	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AACTTCAGCTCGGATCCTTGC	0.358000													19	22					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80141803	80141803	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:80141803C>T	ENST00000392347.1	-	8	1094	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	CCDC57_ENST00000389641.4_Missense_Mutation_p.R353H|CCDC57_ENST00000392343.3_Missense_Mutation_p.R353H|CCDC57_ENST00000327026.3_5'UTR	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	353										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGCATCTTCACGAAGTCTAAA	0.468000													17	23					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261508	21261508	+	Silent	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:21261508C>A	ENST00000311620.5	+	2	694	c.621C>A	c.(619-621)atC>atA	p.I207I		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	207										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTTTCAAGATCAAGTTCAAGA	0.473000													3	42					1	1	1	1	0
ENPEP	2028	broad.mit.edu	37	4	111436563	111436563	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:111436563T>C	ENST00000265162.5	+	8	1816	c.1474T>C	c.(1474-1476)Tgg>Cgg	p.W492R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	492					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCTTGAAGACTGGATAAAACC	0.308000													23	19					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	84					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144093533	144093533	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:144093533C>T	ENST00000427704.2	+	7	1468	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	PHACTR2_ENST00000440869.2_Silent_p.D457D|PHACTR2_ENST00000367584.4_Silent_p.D434D|PHACTR2_ENST00000367582.3_Silent_p.D377D|PHACTR2_ENST00000305766.6_Silent_p.D366D	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	446							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGACTCGGACGGGCCTATCT	0.517000													25	21					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146243850	146243850	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:146243850A>G	ENST00000367503.3	-	19	4078	c.3680T>C	c.(3679-3681)aTt>aCt	p.I1227T	SHPRH_ENST00000438092.2_Missense_Mutation_p.I1227T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1223T|SHPRH_ENST00000367505.2_Missense_Mutation_p.I1223T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1223					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCAGACTCAATAACATTACG	0.413000													47	21					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													4	48					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661386	227661386	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:227661386G>T	ENST00000305123.4	-	1	3089	c.2069C>A	c.(2068-2070)cCt>cAt	p.P690H		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	690					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGTCCCGGAAGGGACGGCGTt	0.627000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	59					1.60099e-16	1.72574e-16	1	1	0
CLIC1	1192	broad.mit.edu	37	6	31701648	31701648	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31701648A>C	ENST00000375780.2	-	4	812	c.240T>G	c.(238-240)atT>atG	p.I80M	CLIC1_ENST00000375784.3_Missense_Mutation_p.I80M|CLIC1_ENST00000375779.2_Missense_Mutation_p.I80M|CLIC1_ENST00000395892.1_Missense_Mutation_p.I80M			O00299	CLIC1_HUMAN	chloride intracellular channel 1	80	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GAAATTCCTCAATCTTGTTGG	0.562000													103	54					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40990780	40990780	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:40990780G>C	ENST00000293362.3	+	7	638	c.477G>C	c.(475-477)agG>agC	p.R159S	PSME3_ENST00000545225.1_Missense_Mutation_p.R85S|PSME3_ENST00000590720.1_Missense_Mutation_p.R146S|PSME3_ENST00000441946.2_Missense_Mutation_p.R157S|PSME3_ENST00000592169.1_Missense_Mutation_p.R90S|PSME3_ENST00000541124.1_3'UTR	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGATTCCCAGGATAGAAGATG	0.458000													51	45					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631178	99631178	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:99631178G>C	ENST00000324306.6	+	6	1284	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K314N|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K137N	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	350					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAAGGGAGAAGGGGAAAGGAT	0.473000													15	23					0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768821	121768821	+	Silent	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:121768821T>C	ENST00000282561.3	+	2	985	c.828T>C	c.(826-828)gcT>gcC	p.A276A		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	276					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CACCAACCGCTCCCCTCTCGC	0.512000													17	55					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													3	20					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	82					0	0	1	0	0
SIAH1	6477	broad.mit.edu	37	16	48395912	48395912	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:48395912G>A	ENST00000380006.2	-	1	1881	c.428C>T	c.(427-429)gCt>gTt	p.A143V	SIAH1_ENST00000356721.3_Missense_Mutation_p.A174V|SIAH1_ENST00000394725.2_Missense_Mutation_p.A143V			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	143	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GGGCATTACAGCATCCAGAGA	0.468000													3	41					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98987870	98987870	+	Silent	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:98987870C>G	ENST00000188376.5	+	1	468	c.114C>G	c.(112-114)ggC>ggG	p.G38G	SLC25A3_ENST00000551917.1_Silent_p.G38G|SLC25A3_ENST00000551265.1_Silent_p.G38G|SLC25A3_ENST00000549338.1_Silent_p.G38G|SLC25A3_ENST00000548847.1_Silent_p.G38G|SLC25A3_ENST00000552981.1_Silent_p.G38G|SLC25A3_ENST00000547534.1_Silent_p.G38G|SLC25A3_ENST00000228318.3_Silent_p.G38G|SLC25A3_ENST00000401722.3_Silent_p.G38G	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	38					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGCCCACGGGCCAGCCCCGCC	0.697000													14	31					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7578291T>G	ENST00000420246.2	-	6	692		c.e6-2		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGCCAGACCTAAGAGCAATC	0.552000		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)			58	6					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													4	60					0	0	1	0	0
KLRB1	3820	broad.mit.edu	37	12	9760429	9760429	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:9760429G>T	ENST00000229402.3	-	1	53	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	3					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						ATTGCTTGTTGGTCCATGGCA	0.438000													42	81					8.01111e-26	9.23503e-26	1	1	0
USP10	9100	broad.mit.edu	37	16	84801887	84801887	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:84801887C>T	ENST00000219473.7	+	11	2034	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP10_ENST00000570191.1_Missense_Mutation_p.R645C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	641					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGACAAGATACGCACAGTCCA	0.428000													10	7					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177190223	177190223	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:177190223G>T	ENST00000296525.3	-	1	150	c.37C>A	c.(37-39)Caa>Aaa	p.Q13K		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	13					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGGATAATTGTTGAGCAAAC	0.423000													28	40					3.73148e-12	3.92041e-12	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62293798	62293798	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:62293798C>A	ENST00000378024.4	-	5	8365	c.8091G>T	c.(8089-8091)atG>atT	p.M2697I	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2697					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCTGGCATCTTGAACT	0.458000													145	77					5.4523e-64	6.46487e-64	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	41984100	41984100	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:41984100C>G	ENST00000372584.1	-	6	6457	c.5443G>C	c.(5443-5445)Gtg>Ctg	p.V1815L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1815L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.V1815L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1815L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1815					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCCAGCACCCCTGTCTCT	0.522000													42	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597447	179597447	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:179597447T>G	ENST00000589042.1	-	56	16567		c.e56-2		TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								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)			TGGGTGGTTCTGAAGAAGGGG	0.398000													10	10					0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271916	1271916	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:1271916G>A	ENST00000234798.4	-	6	842	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	280					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GGGAGCCTGGGGTACCCAGAC	0.652000													20	20					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			37	4					0	0	1	0	0
PRAF2	11230	broad.mit.edu	37	X	48929638	48929638	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:48929638G>A	ENST00000376390.4	-	3	510	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	WDR45_ENST00000376358.3_Missense_Mutation_p.R257C|WDR45_ENST00000553851.1_Missense_Mutation_p.R257C|PRAF2_ENST00000491199.1_5'UTR	NM_007213.1	NP_009144.1			PRA1 domain family, member 2											endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						TTAAGGTTGCGCAGGCGCAAC	0.602000													26	34					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65418862	65418862	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:65418862G>A	ENST00000519389.1	+	11	2197	c.2018G>A	c.(2017-2019)cGg>cAg	p.R673Q	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.R622Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R622Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R352Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R619Q			Q9BQS7	HEPH_HUMAN	hephaestin	619	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACTCCAATCGGATGCATGGT	0.448000													42	47					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr15:102292785C>G	ENST00000561463.1	+	0	831																		p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602000													4	38					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	46					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1650844	1650844	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:1650844C>T	ENST00000356200.3	-	3	410	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	CDK11A_ENST00000357760.2_Missense_Mutation_p.R93Q|CDK11A_ENST00000378633.1_Missense_Mutation_p.R93Q|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Missense_Mutation_p.R93Q|CDK11A_ENST00000378638.2_Missense_Mutation_p.R59Q|CDK11A_ENST00000378635.3_Missense_Mutation_p.R93Q|CDK11A_ENST00000404249.3_Missense_Mutation_p.R93Q					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TTTTTCTTTCCGAGACATTTG	0.398000													94	172					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681482	144681482	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:144681482C>T	ENST00000504548.2	+	1	1409	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V	TIGD5_ENST00000321385.3_Missense_Mutation_p.A421V	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	470					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGGTGCAGGCGGGCAGCATT	0.706000													11	17					0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100278581	100278581	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:100278581A>G	ENST00000338687.7	-	7	1304	c.499T>C	c.(499-501)Tct>Cct	p.S167P	TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212P|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212P			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	212							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAATGGAGACTGTCGAAGG	0.443000													32	26					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7611523	7611523	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7611523C>G	ENST00000226091.2	+	2	767	c.370C>G	c.(370-372)Ctc>Gtc	p.L124V		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	124					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TAGCCCTAATCTCTGGGGCCA	0.577000													44	115					0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67164804	67164804	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:67164804G>C	ENST00000307980.2	+	10	1120	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	343	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCACTCCGAGGAGGAAGATGA	0.642000								Other conserved DNA damage response genes					4	12					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625828	141625828	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:141625828G>A	ENST00000389484.3	-	26	5145	c.4174C>T	c.(4174-4176)Ctt>Ttt	p.L1392F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1392					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCAGAAAAGAATTCTaaaa	0.353000										TSP Lung(27;0.18)			7	23					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476601	35476601	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:35476601C>T	ENST00000357182.4	-	9	1326	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T	ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367T|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367T|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	367					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGGGCACCGCCGAAGAGTTT	0.458000													20	43					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183995214	183995214	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:183995214C>T	ENST00000402825.3	+	4	792	c.792C>T	c.(790-792)agC>agT	p.S264S	ECE2_ENST00000357474.5_Silent_p.S192S|ECE2_ENST00000404464.3_Silent_p.S146S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.S117S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	264	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTTCAACAGCCTCTGGGACC	0.612000													17	45					0	0	1	0	0
PCDHA11	0	broad.mit.edu	37	5	140250487	140250487	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:140250487C>T	ENST00000398640.2	+	1	1799	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGGACTCAGGCTACAAC	0.662000													140	16					0	0	1	0	0
CTC-457E21.3	0	broad.mit.edu	37	19	22785247	22785247	+	RNA	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:22785247C>T	ENST00000600260.1	+	0	1423					NR_033899.1																						GCCCCAGCCCCAGGGACTGGG	0.672000													4	4					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115402734	115402734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:115402734G>A	ENST00000369358.4	-	12	1418	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q392*|NRAP_ENST00000369360.3_Intron|NRAP_ENST00000360478.3_Intron			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	392						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCCTGAATTGAGGTGTTTCA	0.408000													21	66					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987608	154987608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:154987608C>T	ENST00000368426.3	+	3	609	c.472C>T	c.(472-474)Cga>Tga	p.R158*	ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.R192*|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.R158*	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	158					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGACTGTGAGCGAGCCCGCCA	0.637000													33	109					0	0	1	0	0
RNF182	221687	broad.mit.edu	37	6	13977863	13977863	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:13977863G>T	ENST00000488300.1	+	3	1036	c.513G>T	c.(511-513)tgG>tgT	p.W171C	RNF182_ENST00000537663.1_Missense_Mutation_p.W171C|RNF182_ENST00000537388.1_Missense_Mutation_p.W171C|RNF182_ENST00000544682.1_Missense_Mutation_p.W171C	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	171						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GGACTGTGTGGAACTGCACGT	0.517000													51	144					9.22156e-22	1.04848e-21	1	1	0
MGAM	8972	broad.mit.edu	37	7	141736712	141736712	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:141736712C>T	ENST00000475668.2	+	18	2220	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y	MGAM_ENST00000549489.2_Silent_p.Y722Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	722	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTGCCCTACCTATACACCC	0.507000													94	44					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145580958	145580958	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:145580958G>T	ENST00000296575.3	+	4	1454	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.D267Y|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	267						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCTTATTTGGACATTCACAA	0.363000													60	55					8.4772e-36	9.90997e-36	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4737296	4737296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:4737296C>A	ENST00000545990.2	-	5	1296	c.772G>T	c.(772-774)Gga>Tga	p.G258*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.G258*	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	258					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAACCTTCCACCCTCTCTG	0.458000													33	188					2.81731e-10	2.92296e-10	1	1	0
NRK	203447	broad.mit.edu	37	X	105153215	105153215	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:105153215G>A	ENST00000428173.2	+	13	1888	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	NRK_ENST00000243300.9_Missense_Mutation_p.E528K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	528	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGGTACCCGAACAACAAAG	0.552000										HNSCC(51;0.14)			26	22					0	0	1	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165215	39165215	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:39165215G>T	ENST00000391588.1	-	1	151	c.112C>A	c.(112-114)Cat>Aat	p.H38N	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	38	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTGATCTCATGTGGGCAGGTG	0.602000													28	86					5.61819e-17	6.13565e-17	1	1	0
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647000													24	35					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43021941	43021941	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:43021941A>C	ENST00000428554.2	+	12	1683	c.540A>C	c.(538-540)aaA>aaC	p.K180N	CCDC30_ENST00000342022.4_Missense_Mutation_p.K180N|CCDC30_ENST00000340612.4_Missense_Mutation_p.K180N|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	180										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAGATATGAAAGATGAAGAAA	0.443000													24	16					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793392	109793394	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:109793392_109793394delTTC	ENST00000271332.3	+	1	752_754	c.691_693delTTC	c.(691-693)del	p.F232del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	232	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCAACCAGTTCTTCTCCCTGG	0.616													18	38	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:65150817delC	ENST00000430126.2	+	0	757																											TCATCCCTCACCCCCCCCCCC	0.468													4	9	---	---	---	---					
RMDN1	51115	broad.mit.edu	37	8	87498823	87498824	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:87498823_87498824insT	ENST00000406452.3	-	4	543_544	c.384_385insA	c.(382-387)gtctcafs	p.S129fs	RMDN1_ENST00000519966.1_Frame_Shift_Ins_p.S129fs|RMDN1_ENST00000523911.1_Frame_Shift_Ins_p.S85fs|RMDN1_ENST00000430676.2_Frame_Shift_Ins_p.S129fs|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		CTAAGCTGAGCTACATCACGTG	0.371													25	40	---	---	---	---					
ATE1	11101	broad.mit.edu	37	10	123503221	123503236	+	Frame_Shift_Del	DEL	CGGAGCACTTCTGCCC	CGGAGCACTTCTGCCC	-	rs146965571	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:123503221_123503236delCGGAGCACTTCTGCCC	ENST00000369043.3	-	12	1602_1617	c.1516_1531delGGGCAGAAGTGCTCCG	c.(1516-1533)agfs	p.GQKCSE506fs	ATE1_ENST00000369040.3_Frame_Shift_Del_p.GQKCSE410fs|ATE1_ENST00000535655.1_Frame_Shift_Del_p.GQKCSE207fs|ATE1_ENST00000224652.6_Frame_Shift_Del_p.GQKCSE506fs|ATE1_ENST00000540606.1_Frame_Shift_Del_p.GQKCSE499fs|ATE1_ENST00000543447.1_Frame_Shift_Del_p.GQKCSE391fs	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	506					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGCATCCGCTCGGAGCACTTCTGCCCCACCAGGCTG	0.519													14	50	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	301	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58064624	58064624	+	RNA	DEL	T	T	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:58064624delT	ENST00000586209.1	+	0	158																											ttTTTTGGTGTTTTTtttttt	0.353													3	3	---	---	---	---					
NUDT11	0	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			8	8	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													8	150	---	---	---	---