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
BCL9	607	broad.mit.edu	37	1	147096054	147096054	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:147096054T>C	ENST00000234739.3	+	10	4315	c.3575T>C	c.(3574-3576)cTt>cCt	p.L1192P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1192	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)					GATGCAGCACTTTGCAAGCCT	0.627000			T	"""IGH@, IGL@"""	B-ALL								9	112					0	0	1	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15025642	15025642	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrY:15025642G>A	ENST00000336079.3	+	7	656	c.550G>A	c.(550-552)Gac>Aac	p.D184N	DDX3Y_ENST00000360160.4_Missense_Mutation_p.D184N|DDX3Y_ENST00000463199.1_3'UTR	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	184						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	p.D184N(1)		kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						TAGCGATATTGACATGGGAGA	0.348000													16	83					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496972	216496972	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:216496972G>A	ENST00000366943.2	-	8	1780	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	USH2A_ENST00000307340.3_Missense_Mutation_p.P465L|USH2A_ENST00000366942.3_Missense_Mutation_p.P465L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	465	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P465L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGTATCCAGGACGATAATT	0.378000										HNSCC(13;0.011)			16	172					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75829169	75829169	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:75829169G>A	ENST00000322507.8	-	45	7416	c.7107C>T	c.(7105-7107)agC>agT	p.S2369S	COL12A1_ENST00000345356.6_Silent_p.S1205S|COL12A1_ENST00000483888.2_Silent_p.S2369S|COL12A1_ENST00000416123.2_Silent_p.S2369S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2369	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S2369S(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGACCTCATCGCTGTATTGCA	0.433000													39	136					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21609140	21609140	+	Splice_Site	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:21609140G>T	ENST00000425654.2	+	14	2048	c.1567_splice	c.e14-1	p.G523_splice	CNKSR2_ENST00000379510.3_Splice_Site_p.G553_splice|CNKSR2_ENST00000543067.1_Splice_Site_p.G504_splice|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Splice_Site_p.G553_splice	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	553					regulation of signal transduction	cytoplasm|membrane	protein binding	p.G553V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACCCTTTAGGTCCTATAGCA	0.383000													51	102					9.16383e-17	9.90503e-17	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73440206	73440206	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:73440206G>A	ENST00000263666.4	-	6	1430	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	PDZRN3_ENST00000479530.1_Missense_Mutation_p.T156M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T96M|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T161M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T96M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCATCGTCCGTCCGGTAGCA	0.448000													30	308					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100202886	100202886	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:100202886C>T	ENST00000325103.6	-	3	345	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	HPS1_ENST00000361490.4_Missense_Mutation_p.E38K|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.E38K	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	38	Poly-Glu.				lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.E38K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTCACCTCTTCTTCCTCATTC	0.557000									Hermansky-Pudlak syndrome				53	193					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54795429	54795429	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:54795429T>A	ENST00000293379.4	-	23	2588	c.2327A>T	c.(2326-2328)cAa>cTa	p.Q776L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	776					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.Q776L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CACGTCGCTTTGCGAGTTGTT	0.602000													52	172					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940258	144940258	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:144940258G>A	ENST00000525985.1	-	2	7235	c.7164C>T	c.(7162-7164)gaC>gaT	p.D2388D				P58107	EPIPL_HUMAN	epiplakin 1	2388						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGTGTTGGGGTCGAAGAAGC	0.632000													19	527					0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475301	29475301	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:29475301C>T	ENST00000373795.4	-	6	1340	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SRSF4_ENST00000466448.1_5'UTR|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	369	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						gctgcggctgcgactgcgact	0.612000													5	41					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170936487	170936487	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:170936487T>C	ENST00000272793.5	+	37	5413	c.5363T>C	c.(5362-5364)cTg>cCg	p.L1788P	UBR3_ENST00000418381.1_Missense_Mutation_p.L1788P|UBR3_ENST00000392631.1_Missense_Mutation_p.L609P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1788	Cys-rich.				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTTGTATGCCTGAAAGGACTT	0.378000													4	221					0	0	1	0	0
MIR720	0	broad.mit.edu	37	3	164059179	164059179	+	RNA	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:164059179G>C	ENST00000408828.1	+	0	51																											ccaAAAtgttgtgcccagggg	0.572000													4	9					0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126255198	126255198	+	Splice_Site	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:126255198T>C	ENST00000319340.2	+	2	230		c.e2+2			NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13						chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	p.?(1)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGATCAGGTAGGTGGACAG	0.607000													25	90					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247175	153247175	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:153247175T>C	ENST00000281708.4	-	10	2856	c.1627A>G	c.(1627-1629)Aga>Gga	p.R543G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	543					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAATAGACTCTATTAGTATGC	0.408000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								39	152					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962241	73962241	+	Silent	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:73962241G>C	ENST00000373468.1	-	3	2802	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L	KIAA2022_ENST00000055682.5_Silent_p.L717L			Q5QGS0	K2022_HUMAN	KIAA2022	717					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGATTTTATTGAGCACTTTCC	0.418000													4	103					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551002	165551002	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:165551002T>A	ENST00000375458.2	-	11	3121	c.2900A>T	c.(2899-2901)aAt>aTt	p.N967I	COBLL1_ENST00000194871.6_Missense_Mutation_p.N1072I|COBLL1_ENST00000392717.2_Missense_Mutation_p.N1043I|COBLL1_ENST00000409184.3_Missense_Mutation_p.N1005I|COBLL1_ENST00000342193.4_Missense_Mutation_p.N1005I	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1043								p.N1005I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTCTTCAGATTTTGTGTGGA	0.478000													10	76					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26885585	26885585	+	Silent	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:26885585C>A	ENST00000308360.7	-	8	1218	c.843G>T	c.(841-843)ggG>ggT	p.G281G	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Silent_p.G220G|PIGS_ENST00000395346.2_Silent_p.G273G	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	281					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGGGATTCACCCCCAACATTG	0.473000													9	23					7.48243e-07	7.85655e-07	1	1	0
BRCA2	675	broad.mit.edu	37	13	32950826	32950826	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr13:32950826T>A	ENST00000544455.1	+	21	8879	c.8652T>A	c.(8650-8652)taT>taA	p.Y2884*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Y2884*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2884					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.Y2884*(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAAACCATATTTACCATCAC	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			17	69					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471151	44471151	+	Silent	SNP	C	C	A	rs79157058	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:44471151C>A	ENST00000251269.5	+	6	1825	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L	ZNF221_ENST00000592350.1_Silent_p.L499L|ZNF221_ENST00000587682.1_Silent_p.L499L	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L499L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCAGAGACTCCACAGTGGGG	0.458000													32	129					4.3181e-19	4.77264e-19	1	1	0
ATP8B2	57198	broad.mit.edu	37	1	154303598	154303598	+	Silent	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:154303598T>A	ENST00000368489.3	+	5	378	c.378T>A	c.(376-378)gcT>gcA	p.A126A	ATP8B2_ENST00000368487.3_Silent_p.A93A|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.A112A	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	112					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A126A(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATCACAGCTGTTAAAGATG	0.493000													32	93					0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40434298	40434298	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:40434298G>A	ENST00000372809.5	+	13	1592	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	MFSD2A_ENST00000420632.2_Silent_p.L314L|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Silent_p.L470L	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	483					transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.L470L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTTTACACTGAACATGCTCG	0.567000													46	161					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383148	22383148	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:22383148C>T	ENST00000328795.4	+	1	767	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGCCATGTTCGTAGGGCAGC	0.483000													24	321					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89156981	89156981	+	RNA	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:89156981T>C	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							TTGCTCAGCGTCAGGGTGCTG	0.567000													14	91					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11780421	11780421	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:11780421G>A	ENST00000381486.2	+	33	5991	c.5691G>A	c.(5689-5691)gcG>gcA	p.A1897A	GREB1_ENST00000234142.5_Silent_p.A1897A|GREB1_ENST00000396123.1_Silent_p.A895A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1897						integral to membrane		p.A1897A(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGCAGGTGCGACGTTGTGTG	0.602000													20	58					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688015	68688015	+	Silent	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:68688015G>C	ENST00000361320.4	+	2	1919	c.1341G>C	c.(1339-1341)gcG>gcC	p.A447A	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	447						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGTACCCTGCGAGCATGAAGC	0.522000													17	113					0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22141157	22141157	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:22141157G>A	ENST00000344642.2	+	2	539	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.G118S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	118						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GTTCTACGAgggcccgccggg	0.751000													4	16					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29417342	29417342	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:29417342G>T	ENST00000378993.1	+	5	1293	c.620G>T	c.(619-621)aGa>aTa	p.R207I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R207I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	207	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R207I(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGAAGTCAGAGAAGATGAC	0.338000													28	42					1.33986e-20	1.50351e-20	1	1	0
IGHV4-39	28394	broad.mit.edu	37	14	106877875	106877875	+	RNA	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:106877875G>T	ENST00000390619.2	-	0	168																											GGTCTCCGAAGGCTTCACCAG	0.627000													20	104					9.86323e-18	1.074e-17	1	1	0
GTF2B	2959	broad.mit.edu	37	1	89325684	89325684	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:89325684T>C	ENST00000370500.5	-	5	534	c.416A>G	c.(415-417)aAt>aGt	p.N139S	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	139					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	p.N139S(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GAATAAATTATTTGTTCGATC	0.343000													26	184					0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77588033	77588033	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:77588033T>C	ENST00000370812.3	-	10	1021	c.998A>G	c.(997-999)gAc>gGc	p.D333G	PIGK_ENST00000445065.1_Missense_Mutation_p.D239G|PIGK_ENST00000370813.5_Missense_Mutation_p.D257G	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	333					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	p.D333G(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						ATCCATCTGGTCTTCCTTATA	0.299000													23	86					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68021883	68021883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:68021883G>A	ENST00000412757.2	-	11	1743	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	DPEP2_ENST00000572888.1_Nonsense_Mutation_p.Q360*|DPEP2_ENST00000393847.1_Nonsense_Mutation_p.Q360*			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	360					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.Q360*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TCCAGCCCCTGAGGGAATCTG	0.557000													31	120					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907436	164907436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:164907436G>A	ENST00000475390.1	-	2	1626	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R395*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	395	LRRNT.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTAAATCCTCGCTCTTTGCAG	0.418000										HNSCC(40;0.11)			48	199					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39496009	39496009	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:39496009G>T	ENST00000265707.5	+	10	898	c.853G>T	c.(853-855)Gga>Tga	p.G285*	ADAM18_ENST00000379866.1_Nonsense_Mutation_p.G261*|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	285	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAAATATGTGGGAGCAACATT	0.289000													3	58					0.150653	0.151685	1	1	0
MYO9B	4650	broad.mit.edu	37	19	17305984	17305984	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:17305984C>T	ENST00000595618.1	+	22	3900	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	MYO9B_ENST00000594824.1_Missense_Mutation_p.R1250W|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1250W	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1250	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCAGTTGGAGCGGCCGACCAG	0.677000													9	21					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94052391	94052391	+	Silent	SNP	C	C	T	rs41317725		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:94052391C>T	ENST00000297268.6	+	40	2997	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	842			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.F842F(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCTGGCTTCGCTGGTGAGA	0.532000										HNSCC(75;0.22)			33	175					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													8	154					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139563752	139563752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:139563752G>A	ENST00000358430.3	-	10	2198	c.1966C>T	c.(1966-1968)Cga>Tga	p.R656*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	656						cytoplasm		p.R656*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTGCTGCTCGTGGGGGCTGC	0.642000													47	93					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72298066	72298066	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:72298066C>T	ENST00000263563.6	+	12	1622	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CAGTTTCAGCCGCTGGCTGTG	0.667000													5	63					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153047	105153047	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:105153047C>T	ENST00000428173.2	+	13	1720	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	NRK_ENST00000243300.9_Missense_Mutation_p.R472W			Q7Z2Y5	NRK_HUMAN	Nik related kinase	472	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R473W(1)		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						TCCACGACTACGGAGGGCAGC	0.557000										HNSCC(51;0.14)			10	26					0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57269492	57269492	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:57269492G>A	ENST00000264220.2	-	4	615	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	160	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	p.P160S(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGTTCCTGAGGAGGGGTATAC	0.423000													35	131					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790981	4790981	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:4790981C>G	ENST00000380383.1	-	1	187	c.188G>C	c.(187-189)aGt>aCt	p.S63T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.S56T			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	56						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCATGGAGACTCTGCTGGGT	0.453000													8	41					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606315	21606315	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21606315T>G	ENST00000392288.2	+	4	963	c.854T>G	c.(853-855)cTa>cGa	p.L285R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.L157R	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L157R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGGCATAAGCTAATTCATACT	0.343000													26	103					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39411612	39411612	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr22:39411612G>A	ENST00000361441.3	+	2	310	c.30G>A	c.(28-30)aaG>aaA	p.K10K	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	10					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					ACCCGATGAAGGCAATGTATC	0.522000													19	157					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14217672	14217672	+	Missense_Mutation	SNP	C	C	T	rs56085217		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:14217672C>T	ENST00000308677.4	-	3	333	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.R38Q	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	46	Protein kinase.		R -> Q (in dbSNP:rs56085217).		activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGTCTTGATTCGTTCAAACTG	0.602000													11	113					0	0	1	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107283035	107283035	+	RNA	SNP	T	T	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:107283035T>G	ENST00000390639.2	-	0	161																											AGACCTTCACTGAGGCCCCAG	0.572000													81	207					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535782	90535782	+	RNA	SNP	C	C	T	rs479015	by1000genomes	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:90535782C>T	ENST00000602681.1	+	0	1686																											AAAGGGACACCACAATGTCCC	0.557000													5	249					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680722	85680722	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:85680722A>C	ENST00000316824.3	+	3	778	c.623A>C	c.(622-624)gAt>gCt	p.D208A		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	208					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCACCTATGATATATCAGTT	0.368000													37	104					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505814	195505814	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:195505814C>T	ENST00000463781.3	-	2	13096	c.12637G>A	c.(12637-12639)Gac>Aac	p.D4213N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	970					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.D4213N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.597000													3	10					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028043	248028043	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:248028043G>C	ENST00000366481.3	+	3	601	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	185						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTCAGATTGGAGTTTGAGAA	0.602000													13	66					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27414043	27414043	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:27414043G>A	ENST00000527372.1	-	38	5803	c.5623C>T	c.(5623-5625)Cgg>Tgg	p.R1875W	MYO18A_ENST00000531253.1_Missense_Mutation_p.R1875W|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1838W|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1875W|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000529578.1_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1875					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.R1875W(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCTGTAGCCGCTTGTTCTGT	0.612000													18	92					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126410117	126410117	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:126410117G>A	ENST00000339582.2	-	7	1967	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L	GRM8_ENST00000405249.1_Silent_p.L387L|GRM8_ENST00000358373.3_Silent_p.L387L|GRM8_ENST00000444921.2_Silent_p.L387L|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	387					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.L387M(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATTCGCTCCAGCCCTGCAAAA	0.378000										HNSCC(24;0.065)			19	39					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776889	5776889	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:5776889A>T	ENST00000317254.3	+	1	967	c.919A>T	c.(919-921)Ata>Tta	p.I307L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I307L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGACTGTGTCATAAGGATCCT	0.413000													39	93					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43516996	43516996	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:43516996G>C	ENST00000430334.3	-	11	3039	c.2906C>G	c.(2905-2907)gCa>gGa	p.A969G	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A880G	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	969					intracellular signal transduction	cytoplasm	metal ion binding	p.A969G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CACCCCGTCTGCGATCTGCGG	0.582000													26	69					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101120724	101120724	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:101120724G>A	ENST00000314742.8	-	2	546	c.324C>T	c.(322-324)acC>acT	p.T108T	LINS_ENST00000561308.1_Silent_p.T108T|LINS_ENST00000560133.1_Intron|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	108										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CATGGAACTCGGTTTTGACAG	0.383000													11	108					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179688706	179688706	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:179688706T>A	ENST00000452135.2	-	5	726	c.428A>T	c.(427-429)cAt>cTt	p.H143L	MAPK9_ENST00000539014.1_Missense_Mutation_p.H143L|MAPK9_ENST00000455781.1_Missense_Mutation_p.H143L|MAPK9_ENST00000393360.3_Missense_Mutation_p.H143L|MAPK9_ENST00000425491.2_Missense_Mutation_p.H143L|MAPK9_ENST00000343111.6_Missense_Mutation_p.H143L|MAPK9_ENST00000347470.4_Missense_Mutation_p.H143L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000524170.1_5'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	143	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.H143L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAGCTGAATGCAGATGTTT	0.308000													31	97					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	rs139165674	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:114680442C>T	ENST00000393296.1	-	3	823	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000369547.1_Missense_Mutation_p.R164H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGGATACGCACAATCAG	0.542000													14	123					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69621297	69621297	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:69621297A>T	ENST00000337103.4	+	8	2569	c.977A>T	c.(976-978)aAa>aTa	p.K326I	C8orf34_ENST00000325233.3_Missense_Mutation_p.K95I|C8orf34_ENST00000539993.1_Missense_Mutation_p.K351I|C8orf34_ENST00000518698.1_Missense_Mutation_p.K437I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	351					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCAGATGAAAAAATCCCAGAT	0.328000													28	64					0	0	1	0	0
KANK3	256949	broad.mit.edu	37	19	8387792	8387792	+	Silent	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:8387792A>T	ENST00000330915.3	-	11	2462	c.2397T>A	c.(2395-2397)ccT>ccA	p.P799P	RPS28_ENST00000600659.2_3'UTR	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	423										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						TCTGGGAGCCAGGGGGTGACT	0.592000													3	50					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606339	21606339	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21606339A>G	ENST00000392288.2	+	4	987	c.878A>G	c.(877-879)tAt>tGt	p.Y293C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.Y165C	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y165C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAAACCCTATAAATGTGAA	0.343000													25	114					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G	rs144345425	by1000genomes	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478000													3	96					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616422	77616422	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:77616422G>C	ENST00000521891.2	+	2	547	c.99G>C	c.(97-99)gaG>gaC	p.E33D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E33D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E33D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E33D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGTGCCAGAGAAAGTTGCAG	0.502000										HNSCC(33;0.089)			16	70					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	RNA	SNP	C	C	A	rs7615369	by1000genomes	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437																											CTGAGCATCGCAGAGTCGTGC	0.552000													3	55					0.00448238	0.00457576	1	1	0
NEDD4	4734	broad.mit.edu	37	15	56132818	56132818	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:56132818C>T	ENST00000508342.1	-	16	3502	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1068	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAACAGTTTGCCATGATAAAC	0.338000													5	203					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114285981	114285981	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr13:114285981T>C	ENST00000375370.5	+	5	442	c.230T>C	c.(229-231)gTg>gCg	p.V77A	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000544902.1_Intron|TFDP1_ENST00000538138.1_Intron	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	77					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.V77A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACACCCTGGTGGTAGGAAGC	0.592000										TSP Lung(29;0.18)			23	79					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792843	65792843	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:65792843G>A	ENST00000312106.5	-	1	1145	c.1008C>T	c.(1006-1008)caC>caT	p.H336H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	336					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.H336H(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CGGGGGCATCGTGAATCAGGC	0.592000													17	106					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527092	7527092	+	Missense_Mutation	SNP	C	C	T	rs149805278		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:7527092C>T	ENST00000313599.3	-	13	3412	c.3355G>A	c.(3355-3357)Ggc>Agc	p.G1119S	CD163L1_ENST00000396630.1_Missense_Mutation_p.G1119S|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1129S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1119	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCCCCAGCCGCGGGAAGGG	0.617000													20	97					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10206726	10206726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:10206726C>A	ENST00000418404.3	-	37	5719	c.5556G>T	c.(5554-5556)aaG>aaT	p.K1852N	MYH13_ENST00000570743.1_Missense_Mutation_p.K1852N|MYH13_ENST00000252172.4_Missense_Mutation_p.K1852N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1852					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1852N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGTCATCTCCTTGACTTTGC	0.542000													38	279					3.62531e-18	3.97702e-18	1	1	0
DNM3	26052	broad.mit.edu	37	1	171956930	171956930	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:171956930G>T	ENST00000358155.4	+	3	546	c.370G>T	c.(370-372)Gtc>Ttc	p.V124F	DNM3_ENST00000355305.5_Missense_Mutation_p.V124F|DNM3_ENST00000367731.1_Missense_Mutation_p.V124F|DNM3_ENST00000520906.1_Missense_Mutation_p.V124F|DNM3_ENST00000367733.2_Missense_Mutation_p.V124F	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	124					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TAATTTACGAGTCTATTCCCC	0.333000													14	188					6.31663e-08	6.72858e-08	1	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54930832	54930832	+	Missense_Mutation	SNP	C	C	A	rs1141061		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:54930832C>A	ENST00000293373.6	+	29	3257	c.3178C>A	c.(3178-3180)Ctg>Atg	p.L1060M	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.L1010M	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1060				L -> V (in Ref. 1; AAA35964).	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CAAGGAATTTCTGGTGGTGAG	0.418000													3	62					0.115264	0.116854	1	1	0
KIAA2013	90231	broad.mit.edu	37	1	11985515	11985515	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:11985515G>A	ENST00000376572.3	-	1	965	c.780C>T	c.(778-780)caC>caT	p.H260H	KIAA2013_ENST00000376576.3_Silent_p.H260H	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	260						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCACCAGGTGCACCAACC	0.647000													10	41					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57106906	57106906	+	Silent	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:57106906G>C	ENST00000454682.1	-	7	6320	c.6039C>G	c.(6037-6039)gtC>gtG	p.V2013V	NACA_ENST00000552540.1_Silent_p.V150V|NACA_ENST00000550952.1_Silent_p.V860V|NACA_ENST00000356769.3_Silent_p.V150V|NACA_ENST00000548563.1_Silent_p.V71V|NACA_ENST00000546392.1_Silent_p.V150V|NACA_ENST00000393891.4_Silent_p.V150V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	150					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.V150V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAATGTTTGAGACAGCTTCAC	0.403000			T	BCL6	NHL								20	118					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997944	115997944	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:115997944G>A	ENST00000264363.2	-	2	927	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	83	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGCTCTCCACGAAGAGAAGGA	0.433000													17	129					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39202060	39202060	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:39202060C>G	ENST00000351578.6	-	2	1193	c.1003G>C	c.(1003-1005)Gga>Cga	p.G335R	FYB_ENST00000540520.1_Missense_Mutation_p.G345R|FYB_ENST00000505428.1_Missense_Mutation_p.G335R|FYB_ENST00000512982.1_Missense_Mutation_p.G335R|FYB_ENST00000515010.1_Missense_Mutation_p.G335R	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	335					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTTGTCTCCCTTTTCCTTT	0.552000													9	95					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13883148	13883148	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:13883148G>A	ENST00000265104.4	-	20	3143	c.3039C>T	c.(3037-3039)agC>agT	p.S1013S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1013	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1013S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGAGTGACGCTTGCCCGGA	0.478000									Kartagener syndrome				94	172					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27148982	27148982	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:27148982G>T	ENST00000263182.3	+	9	1514	c.1146G>T	c.(1144-1146)agG>agT	p.R382S	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R382S|BBOX1_ENST00000529202.1_Missense_Mutation_p.R382S|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.R382S	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	382					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.R382S(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TAAGGCAGAGGGTGGAGAATG	0.418000													5	113					0.000602214	0.00061906	1	1	0
ESYT2	57488	broad.mit.edu	37	7	158560437	158560437	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:158560437T>C	ENST00000251527.5	-	8	1041	c.976A>G	c.(976-978)Ata>Gta	p.I326V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	354						integral to membrane|plasma membrane		p.I326V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTTGATATTATATCCAAAATG	0.408000													11	78					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127412503	127412503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:127412503C>T	ENST00000337623.3	+	4	613	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	C10orf137_ENST00000356792.4_Nonsense_Mutation_p.Q170*	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.Q170*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGATCGTCTCAGGTAATGCT	0.398000													21	129					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156862	106156862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:106156862C>A	ENST00000513237.1	+	3	2623	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	TET2_ENST00000413648.2_Nonsense_Mutation_p.S588*|TET2_ENST00000545826.1_Nonsense_Mutation_p.S588*|TET2_ENST00000305737.2_Nonsense_Mutation_p.S588*|TET2_ENST00000394764.1_Nonsense_Mutation_p.S588*|TET2_ENST00000380013.4_Nonsense_Mutation_p.S588*|TET2_ENST00000540549.1_Nonsense_Mutation_p.S588*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	588	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S588*(3)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCACTGCCATCAATTCTTCAG	0.468000			"""Mis N, F"""		MDS								31	84					2.81731e-10	3.02296e-10	1	1	0
IGHG2	3501	broad.mit.edu	37	14	106110876	106110876	+	RNA	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:106110876G>A	ENST00000390545.2	-	0	251																											TGTGATCTACGTTGCAGGTGT	0.607000													58	140					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632834	169632834	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:169632834G>A	ENST00000366787.3	-	13	2106	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	619	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.C619C(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCAGGGCAGGCAGTGGAAGC	0.637000													12	45					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25308247	25308247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:25308247G>A	ENST00000354189.5	-	5	507	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Nonsense_Mutation_p.Q35*|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000395987.3_Nonsense_Mutation_p.Q100*|CASC1_ENST00000395990.2_Nonsense_Mutation_p.Q54*|CASC1_ENST00000320267.9_Nonsense_Mutation_p.Q94*	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	94										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AGTCCTACCTGAGAAAGCAAT	0.348000													16	74					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71185569	71185569	+	Silent	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:71185569C>T	ENST00000319023.2	+	9	983	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	265	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCTGGATGACGTGGTAATGA	0.597000													21	318					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99879261	99879261	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:99879261A>C	ENST00000436070.2	-	8	946	c.876T>G	c.(874-876)tgT>tgG	p.C292W	SETD3_ENST00000329331.3_Intron|SETD3_ENST00000331768.5_Intron			Q86TU7	SETD3_HUMAN	SET domain containing 3	0	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCCAGATTCAACACAACACAG	0.537000													39	90					0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75704051	75704051	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:75704051G>T	ENST00000394947.3	-	6	1104	c.790C>A	c.(790-792)Cag>Aag	p.Q264K	SIN3A_ENST00000360439.4_Missense_Mutation_p.Q264K|SIN3A_ENST00000394949.4_Missense_Mutation_p.Q264K	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	264	Interaction with REST (By similarity).				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	p.Q264K(1)		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						GGAGTCTGCTGACTGGCCGGA	0.512000													55	193					4.33383e-22	4.90056e-22	1	1	0
ZNF267	10308	broad.mit.edu	37	16	31927613	31927613	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:31927613A>T	ENST00000300870.10	+	4	2252	c.2043A>T	c.(2041-2043)agA>agT	p.R681S	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	681					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ATCGGAGAAGACATACTGGAG	0.448000													7	94					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18767227	18767227	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:18767227C>T	ENST00000406451.3	+	13	1897	c.1747C>T	c.(1747-1749)Cgt>Tgt	p.R583C	HDAC9_ENST00000441542.2_Missense_Mutation_p.R586C|HDAC9_ENST00000432645.2_Missense_Mutation_p.R583C|HDAC9_ENST00000401921.1_Missense_Mutation_p.R542C	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	583					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACGCACACACGTGCGCTCTC	0.547000													9	17					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910043	21910043	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21910043G>A	ENST00000358296.6	-	5	1269	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	ZNF100_ENST00000305570.6_Silent_p.S293S	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TAAGGGTTGAGGACTGGTTAA	0.398000													19	179					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	101					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119035975	119035975	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:119035975G>A	ENST00000296499.5	+	4	1487	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	362	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.D362N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGAAGAGGAAGATGAAGGAGA	0.423000													14	87					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120466838	120466838	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:120466838G>A	ENST00000355622.6	+	1	189	c.88G>A	c.(88-90)Gtg>Atg	p.V30M	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	30					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.V30M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGAGCCCTGCGTGGAGGTATG	0.542000													21	38					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927606	31927606	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:31927606G>A	ENST00000300870.10	+	4	2245	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	679					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ACTACACATCGGAGAAGACAT	0.443000													7	95					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558424	113558424	+	Missense_Mutation	SNP	G	G	A	rs141223649	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:113558424G>A	ENST00000284601.3	-	1	696	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	210	CBM21.				glycogen metabolic process	integral to membrane		p.R210C(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTTCATAACGTATACAAAAC	0.348000													26	140					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51228570	51228570	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:51228570C>G	ENST00000245441.5	-	16	2024	c.1834G>C	c.(1834-1836)Gaa>Caa	p.E612Q	NIN_ENST00000382043.4_Missense_Mutation_p.E612Q|NIN_ENST00000453196.1_Missense_Mutation_p.E612Q|NIN_ENST00000324330.9_Missense_Mutation_p.E612Q|NIN_ENST00000382041.3_Missense_Mutation_p.E612Q|NIN_ENST00000389868.3_Missense_Mutation_p.E612Q|NIN_ENST00000530997.2_Missense_Mutation_p.E612Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	612					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.E618Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCATCTGTTCAATGACCAGC	0.438000			T	PDGFRB	MPD								57	329					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535829	90535829	+	RNA	SNP	G	G	A	rs144903965	by1000genomes	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:90535829G>A	ENST00000602681.1	+	0	1733																											TCCCATCTGGGGCCTGAGTCC	0.567000													28	265					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5105050	5105050	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:5105050G>A	ENST00000396912.1	+	5	2482	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E655K	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	655	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E655K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGAATGTAATGAATGTGGGAA	0.398000													44	191					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21976686	21976686	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:21976686C>T	ENST00000381418.4	-	15	4568	c.3088G>A	c.(3088-3090)Gca>Aca	p.A1030T	HR_ENST00000312841.8_Missense_Mutation_p.A1030T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1030	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTTCTGTGCCCGGTGCCAG	0.652000													3	64					0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324583	7324583	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:7324583G>A	ENST00000323675.3	+	3	614	c.589G>A	c.(589-591)Gag>Aag	p.E197K	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	197					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.E197K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CATATGGTCCGAGCTGGGCCT	0.637000													5	95					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42533185	42533185	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr18:42533185G>C	ENST00000282030.5	+	4	4176	c.3880G>C	c.(3880-3882)Gac>Cac	p.D1294H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1294						nucleus	DNA binding	p.D1240H(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGGGACAGTGACGTGAGTGG	0.498000									Schinzel-Giedion syndrome				11	80					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964713	32964713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:32964713G>A	ENST00000321639.5	+	10	2745	c.2417G>A	c.(2416-2418)gGc>gAc	p.G806D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	806						integral to membrane		p.G806D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGCTGCTGGGCGTCTTCTGC	0.637000													19	120					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110709633	110709633	+	Missense_Mutation	SNP	G	G	A	rs142242142		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:110709633G>A	ENST00000331565.4	+	2	567	c.82G>A	c.(82-84)Gag>Aag	p.E28K	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	28					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.E28K(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTGGCCCTCGAGGAGCCTGT	0.617000													6	22					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058811	19058811	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:19058811G>T	ENST00000380502.3	-	16	2421	c.1954C>A	c.(1954-1956)Cat>Aat	p.H652N	HAUS6_ENST00000380496.1_Missense_Mutation_p.H516N	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	652					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGTCAAATGAGACTGGCCA	0.398000													47	113					4.01344e-20	4.46951e-20	1	1	0
FYB	2533	broad.mit.edu	37	5	39202059	39202059	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:39202059C>A	ENST00000351578.6	-	2	1194	c.1004G>T	c.(1003-1005)gGa>gTa	p.G335V	FYB_ENST00000540520.1_Missense_Mutation_p.G345V|FYB_ENST00000505428.1_Missense_Mutation_p.G335V|FYB_ENST00000512982.1_Missense_Mutation_p.G335V|FYB_ENST00000515010.1_Missense_Mutation_p.G335V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	335					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATTCTTGTCTCCCTTTTCCTT	0.552000													8	95					3.09899e-07	3.27734e-07	1	1	0
FAM211B	388886	broad.mit.edu	37	22	24982183	24982183	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr22:24982183G>A	ENST00000318753.8	-	4	642	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	207																	AGGCGGGGCAGCGCCCACAGG	0.657000													29	82					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974316	29974316	+	RNA	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:29974316C>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							CGTCGCGCGGCCCCGGTTCTA	0.662000													8	12					5.18039e-06	5.3628e-06	1	1	0
ZNF429	353088	broad.mit.edu	37	19	21719595	21719595	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21719595A>G	ENST00000358491.4	+	4	948	c.740A>G	c.(739-741)cAt>cGt	p.H247R	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H247R(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTTACTAACCATAAGAGAATT	0.383000													14	87					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2834412	2834412	+	Silent	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:2834412A>T	ENST00000317243.5	+	5	1377	c.1179A>T	c.(1177-1179)tcA>tcT	p.S393S		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S393S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGATCTCATCGCTGACTC	0.532000													17	81					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223367	25223367	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:25223367G>C	ENST00000444203.2	+	7	1638	c.599G>C	c.(598-600)aGa>aCa	p.R200T	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000390687.4_Missense_Mutation_p.R196T|SNRPN_ENST00000554227.2_Missense_Mutation_p.R200T|SNRPN_ENST00000400100.1_Missense_Mutation_p.R196T|SNRPN_ENST00000577565.1_Missense_Mutation_p.R196T|SNRPN_ENST00000400098.1_Missense_Mutation_p.R196T|SNRPN_ENST00000400097.1_Missense_Mutation_p.R196T|SNRPN_ENST00000346403.6_Missense_Mutation_p.R196T			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	196	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCTGGTATGAGACCACCCATG	0.507000									Prader-Willi syndrome				23	249					0	0	1	0	0
KRT72	140807	broad.mit.edu	37	12	52994829	52994829	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:52994829G>A	ENST00000293745.2	-	1	493	c.408C>T	c.(406-408)ttC>ttT	p.F136F	KRT72_ENST00000354310.4_Silent_p.F136F|KRT72_ENST00000537672.2_Silent_p.F136F|KRT72_ENST00000398066.3_5'UTR	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	136	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.F136F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGAAGGAGGCGAACTTGTTGT	0.632000													24	101					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958326	40958326	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:40958326G>A	ENST00000313164.9	+	11	1811	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	484	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.A484A(1)					Ovarian(839;0.0112)				CATTTGGTGCGGCGTGTGAGC	0.502000													17	126					0	0	1	0	0
GTF2A1	2957	broad.mit.edu	37	14	81670382	81670382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:81670382G>C	ENST00000553612.1	-	3	602	c.199C>G	c.(199-201)Cta>Gta	p.L67V	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L28V	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	67					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	p.L67V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		acttgcagtagaagctgctgc	0.463000													32	89					0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144130635	144130635	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:144130635G>A	ENST00000395172.1	+	5	717	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	122										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ggattctctcggcaccacggg	0.512000													19	130					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977267	30977267	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:30977267C>T	ENST00000262519.8	+	8	2751	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.R689W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGTTAACTCGGCTCCATCA	0.617000													42	144					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723931	140723931	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:140723931G>A	ENST00000253812.6	+	1	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCTGGTTGAGGATAAATT	0.403000													17	40					0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33772131	33772131	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:33772131G>C	ENST00000530401.1	-	8	891	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V	FBXO3_ENST00000526785.1_Missense_Mutation_p.L183V|FBXO3_ENST00000534136.1_Missense_Mutation_p.L296V|FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000448981.2_Missense_Mutation_p.L296V|FBXO3_ENST00000265651.3_Missense_Mutation_p.L296V|FBXO3_ENST00000532057.1_5'UTR			Q9UK99	FBX3_HUMAN	F-box protein 3	296	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACAGAGCTAAGTTCTGGCAGA	0.388000													6	71					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662000		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)			35	65					0	0	1	0	0
CST4	1472	broad.mit.edu	37	20	23667796	23667796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr20:23667796G>A	ENST00000217423.3	-	2	341	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	91						extracellular region	cysteine-type endopeptidase inhibitor activity	p.R91C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CATATGGTGCGGCCCACCTCT	0.572000													27	219					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:54803127C>T	ENST00000391745.1	-	8	917	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.V184M					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567000													53	55					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946563	150946563	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:150946563C>T	ENST00000261800.5	-	1	1942	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	644	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.D644N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTGCCATCTGAGGCTGTA	0.418000													36	115					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121676716	121676716	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:121676716A>G	ENST00000393386.2	+	18	5758	c.5347A>G	c.(5347-5349)Atc>Gtc	p.I1783V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I916V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1783	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.I1783V(1)|p.N1783D(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GACTGATTATATCAATGCCAA	0.303000													23	65					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104067694	104067694	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:104067694G>A	ENST00000388887.2	+	23	2585	c.2381G>A	c.(2380-2382)tGc>tAc	p.C794Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	794					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAATGCCTGTGCGTTCACGGA	0.587000													7	57					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61840373	61840373	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:61840373C>G	ENST00000280772.1	-	36	4545	c.4354G>C	c.(4354-4356)Gag>Cag	p.E1452Q	ANK3_ENST00000355288.2_Missense_Mutation_p.E577Q|ANK3_ENST00000503366.1_Missense_Mutation_p.E1444Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1437Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1452					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTTTTCTCAATCTGAAAA	0.383000													7	30					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54664984	54664984	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:54664984G>A	ENST00000376591.4	-	12	1849	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	TMC4_ENST00000301187.4_Missense_Mutation_p.S567F|TMC4_ENST00000416963.1_Missense_Mutation_p.S155F	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	573						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGCAGGTGGAGAAGAGGGT	0.552000													6	28					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20141576	20141576	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:20141576T>C	ENST00000345530.3	-	18	2018	c.1903A>G	c.(1903-1905)Att>Gtt	p.I635V	WDR35_ENST00000416055.2_Missense_Mutation_p.I200V|WDR35_ENST00000281405.4_Missense_Mutation_p.I624V	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	635										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATTACAAATATATCCAGAG	0.284000													4	19					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708353	43708353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:43708353C>T	ENST00000405312.3	-	2	352	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PSG4_ENST00000244295.9_Missense_Mutation_p.E39K|PSG4_ENST00000433626.2_Missense_Mutation_p.E39K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	39	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGCTGGGCTTCAATCGTGACT	0.458000													45	385					0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187858	121187858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:121187858G>A	ENST00000321339.1	+	1	209	c.200G>A	c.(199-201)cGg>cAg	p.R67Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	67					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R67Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCCTCTCGGGTGCGCCAG	0.711000													7	40					0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42671599	42671599	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:42671599G>C	ENST00000306078.1	-	2	1381	c.786C>G	c.(784-786)atC>atG	p.I262M	KCNG3_ENST00000394973.4_Missense_Mutation_p.I251M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	262						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	p.I262M(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AATACGGCGTGATTGCCAGTA	0.463000													38	107					0	0	1	0	0
CLDN2	9075	broad.mit.edu	37	X	106171511	106171511	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:106171511T>C	ENST00000541806.1	+	2	572	c.53T>C	c.(52-54)cTt>cCt	p.L18P	CLDN2_ENST00000540876.1_Missense_Mutation_p.L18P|CLDN2_ENST00000336803.1_Missense_Mutation_p.L18P	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	18					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTTCTGGGGCTTTTGGGCACA	0.562000													3	98					0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73717337	73717337	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:73717337C>G	ENST00000314032.4	-	3	766	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	UCP3_ENST00000348534.4_Missense_Mutation_p.E72Q|UCP3_ENST00000426995.2_Missense_Mutation_p.E72Q	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	72					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	p.E72Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CAGGGACCCTCAGTCCGCACC	0.652000													6	20					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94033309	94033310	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:94033309_94033310insCA	ENST00000370244.1	-	12	2361_2362	c.2073_2074insTG	c.(2071-2076)ctatgafs	p.*692fs	BCAR3_ENST00000539242.1_Frame_Shift_Ins_p.*368fs|BCAR3_ENST00000370247.3_Frame_Shift_Ins_p.*601fs|BCAR3_ENST00000370243.1_Frame_Shift_Ins_p.*692fs|BCAR3_ENST00000260502.6_Frame_Shift_Ins_p.*692fs	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	692	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGCCTTCATGCAGGAGTTTGC	0.535													27	84	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141459289	141459289	+	Splice_Site	DEL	C	C	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:141459289delC	ENST00000389484.3	-	40	7399		c.e40+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						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)		AGAGTGCTGACCTTTCTCTCT	0.348										TSP Lung(27;0.18)			7	116	---	---	---	---					
PRR21	643905	broad.mit.edu	37	2	240982117	240982144	+	Frame_Shift_Del	DEL	GTGGGTGAAGAGGCATGGATGAAGGACT	GTGGGTGAAGAGGCATGGATGAAGGACT	-	rs79839275	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENST00000408934.1	-	1	255_282	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	c.(256-285)ggfs	p.SPSSMPLHPR86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG	0.618													10	9	---	---	---	---					
KIF9	64147	broad.mit.edu	37	3	47286984	47287007	+	Splice_Site	DEL	ACTTCCTGTTCCTGTTGGCTTGGG	ACTTCCTGTTCCTGTTGGCTTGGG	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:47286984_47287007delACTTCCTGTTCCTGTTGGCTTGGG	ENST00000335044.2	-	14	1647_1664	c.1289_splice	c.e14-1	p.R430_splice	KIF9_ENST00000265529.3_Splice_Site_p.R430_splice|KIF9_ENST00000352910.4_Splice_Site_p.R337_splice|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Splice_Site_p.R430_splice|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Splice_Site_p.R430_splice	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	430					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGGACTCCACTTCCTGTTCCTGTTGGCTTGGGAGACAGCAAG	0.509													20	129	---	---	---	---					
USP4	7375	broad.mit.edu	37	3	49354710	49354730	+	In_Frame_Del	DEL	GGCCAGCTTCTCGTTGACGCA	GGCCAGCTTCTCGTTGACGCA	-	rs114339538	by1000genomes	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:49354710_49354730delGGCCAGCTTCTCGTTGACGCA	ENST00000415188.1	-	7	888_908	c.877_897delTGCGTCAACGAGAAGCTGGCC	c.(877-897)del	p.CVNEKLA293del	USP4_ENST00000351842.4_Intron|USP4_ENST00000416417.1_Intron|USP4_ENST00000488520.1_Intron|USP4_ENST00000265560.4_Intron			Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	0					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGTTGACGCGGGCCAGCTTCTCGTTGACGCAGGCCAGCTTC	0.584													3	6	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52637575	52637576	+	Frame_Shift_Ins	INS	-	-	TTTC			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:52637575_52637576insTTTC	ENST00000356770.4	-	16	2646_2647	c.2644_2645insGAAA	c.(2644-2646)agafs	p.R882fs	PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.R929fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.R929fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.R914fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.R914fs			Q86U86	PB1_HUMAN	polybromo 1	914					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTTCCTCTATTTCTTTTGGC	0.332			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								8	43	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187541516	187541516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:187541516delT	ENST00000441802.2	-	10	6433	c.6224delA	c.(6223-6225)atfs	p.N2075fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2075	Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCATTATCATTTTGGTCTTC	0.498										HNSCC(5;0.00058)			103	212	---	---	---	---					
RASA1	5921	broad.mit.edu	37	5	86674262	86674264	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:86674262_86674264delGGA	ENST00000456692.2	+	18	1978_1980	c.1863_1865delGGA	c.(1861-1866)atg>at	p.ME621del	RASA1_ENST00000506290.1_In_Frame_Del_p.ME632del|RASA1_ENST00000274376.6_In_Frame_Del_p.ME798del|RASA1_ENST00000512763.1_In_Frame_Del_p.ME631del	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	798	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCACCTTGATGGAGCAGTATATG	0.369													34	119	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													5	2	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:31939825_31939826insG	ENST00000375331.2	+	1	218_219	c.52_53insG	c.(52-54)ggcfs	p.G18fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													11	273	---	---	---	---					
LINC01515	101928913	broad.mit.edu	37	10	67367503	67367504	+	RNA	INS	-	-	TTCCTTCC			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:67367503_67367504insTTCCTTCC	ENST00000433152.3	+	0	594																											tcctctctcctttccttccttc	0.396													4	4	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		ctgtggctccggctgtggaggctgtgggg	0.713													17	16	---	---	---	---					
PHLPP2	23035	broad.mit.edu	37	16	71710362	71710363	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:71710362_71710363insA	ENST00000393524.2	-	8	2191_2192	c.1458_1459insT	c.(1456-1461)taccagfs	p.Q487fs	PHLPP2_ENST00000567016.1_Frame_Shift_Ins_p.Q522fs|PHLPP2_ENST00000568954.1_Frame_Shift_Ins_p.Q487fs|PHLPP2_ENST00000360429.3_Frame_Shift_Ins_p.Q487fs|PHLPP2_ENST00000356272.3_Frame_Shift_Ins_p.Q487fs			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	487						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTGGAACTGGCATAGAGGGTCC	0.500													15	58	---	---	---	---					
NPEPPS	9520	broad.mit.edu	37	17	45695767	45695768	+	In_Frame_Ins	INS	-	-	TTG			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:45695767_45695768insTTG	ENST00000322157.4	+	20	2584_2585	c.2347_2348insTTG	c.(2347-2349)tgg>TTGtgg	p.783_784insL	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_In_Frame_Ins_p.703_704insL|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_In_Frame_Ins_p.779_780insL	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	783					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CGAAAGAGTCCTTGGCGCTACT	0.391													12	102	---	---	---	---					
FPR2	2358	broad.mit.edu	37	19	52272530	52272531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:52272530_52272531insT	ENST00000598776.1	+	2	1391_1392	c.619_620insT	c.(619-621)catfs	p.H207fs	FPR2_ENST00000598953.1_Frame_Shift_Ins_p.H207fs|FPR2_ENST00000340023.6_Frame_Shift_Ins_p.H207fs	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	207					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TATCCGGTTTGTCATTGGCTTT	0.505													37	93	---	---	---	---					
KCNK15-AS1	106144538	broad.mit.edu	37	20	43374220	43374227	+	RNA	DEL	GGAAGGAC	GGAAGGAC	-	rs6031778	by1000genomes	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr20:43374220_43374227delGGAAGGAC	ENST00000427303.1	-	0	57				RP11-445H22.4_ENST00000445420.1_RNA																							aaggaaggaaggaaggacggaaggaagg	0.587													3	4	---	---	---	---					
LINC01399	104310353	broad.mit.edu	37	22	35589672	35589673	+	RNA	INS	-	-	GAAG	rs140037973	by1000genomes	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr22:35589672_35589673insGAAG	ENST00000423311.1	-	0	222																											agggaagggaagaaggaaggaa	0.535													4	8	---	---	---	---