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
TADA2B	93624	broad.mit.edu	37	4	7056454	7056454	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:7056454G>A	ENST00000310074.7	+	2	1125	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TADA2B_ENST00000515646.1_Silent_p.R220R|TADA2B_ENST00000512388.1_Silent_p.R237R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.R312R(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGGCAGCGCGGCATAAACGGG	0.557000													3	44					0	0	0.115264	0	0
TRPC5	7224	broad.mit.edu	37	X	111078215	111078215	+	Silent	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:111078215G>T	ENST00000262839.2	-	7	2748	c.1830C>A	c.(1828-1830)gtC>gtA	p.V610V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	610					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGGGAGATGACATTGTATG	0.423000													5	228					0.217242	0.221341	0.217242	1	0
CLIP2	7461	broad.mit.edu	37	7	73790521	73790521	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:73790521A>G	ENST00000223398.6	+	10	2117	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G	CLIP2_ENST00000395060.1_Missense_Mutation_p.D597G|CLIP2_ENST00000361545.5_Missense_Mutation_p.D562G	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	597						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGCCTGAAGGACAAGGTTCAG	0.612000													5	21					0	0	0.184627	0	0
ARID5B	84159	broad.mit.edu	37	10	63759919	63759919	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:63759919T>C	ENST00000279873.7	+	4	982	c.572T>C	c.(571-573)cTg>cCg	p.L191P		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	191					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CGCTCGATGCTGAAACGCATC	0.532000													3	67					0	0	0.150653	0	0
THBS1	7057	broad.mit.edu	37	15	39884823	39884823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:39884823G>A	ENST00000260356.5	+	17	2752	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	863					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCAGGATATTGATGAAGATGG	0.468000													7	19					0	0	0.278610	0	0
KIAA0430	9665	broad.mit.edu	37	16	15694394	15694394	+	Silent	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:15694394G>C	ENST00000396368.3	-	25	4910	c.4704C>G	c.(4702-4704)ctC>ctG	p.L1568L	KIAA0430_ENST00000551742.1_Silent_p.L1568L|KIAA0430_ENST00000540441.2_Silent_p.L1403L|KIAA0430_ENST00000344181.3_Silent_p.L1256L|KIAA0430_ENST00000548025.1_Silent_p.L1565L|KIAA0430_ENST00000602337.1_Silent_p.L1565L	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1567						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGAGAGACTGAGTGAACTCA	0.552000													22	74					0	0	0.624587	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798773	140798773	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:140798773G>A	ENST00000398594.2	+	1	1347	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1												p.A449A(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAACGCGCCGGTTTTCG	0.572000													4	49					0	0	0.150653	0	0
SLC25A51	92014	broad.mit.edu	37	9	37887716	37887716	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr9:37887716G>A	ENST00000377716.2	-	3	1575	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.R278W|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R278W			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	278					transport	integral to membrane|mitochondrial inner membrane											ATGAGGGACCGATGGTAATTC	0.393000													10	48					0	0	0.457914	0	0
MATK	4145	broad.mit.edu	37	19	3779783	3779783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:3779783C>T	ENST00000310132.6	-	9	1153	c.755G>A	c.(754-756)gGt>gAt	p.G252D	MATK_ENST00000585778.1_Missense_Mutation_p.G252D|MATK_ENST00000395040.2_Missense_Mutation_p.G211D|MATK_ENST00000395045.2_Missense_Mutation_p.G253D	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	252	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTACTCACCCTGCAGGAC	0.627000													8	64					0	0	0.307466	0	0
SCN1A	6323	broad.mit.edu	37	2	166897962	166897962	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:166897962G>T	ENST00000423058.2	-	13	2211	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q704K|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q721K|SCN1A_ENST00000303395.4_Missense_Mutation_p.Q732K|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	732						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGCATTTCTGCCTGGATTCT	0.323000													32	56					1.36615e-20	1.5922e-20	0.769981	1	0
GPR107	57720	broad.mit.edu	37	9	132887236	132887236	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr9:132887236A>G	ENST00000372406.1	+	17	2000	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C	GPR107_ENST00000372410.3_Missense_Mutation_p.Y469C|GPR107_ENST00000347136.6_Missense_Mutation_p.Y450C	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	498						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				AGACATTATTACGTCTTGGTA	0.308000													2	3					0	0	0.115264	0	0
EFCAB6	64800	broad.mit.edu	37	22	43926760	43926760	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr22:43926760G>A	ENST00000262726.7	-	31	4571	c.4318C>T	c.(4318-4320)Cgg>Tgg	p.R1440W	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1288W|EFCAB6-AS1_ENST00000431327.2_RNA|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1440	EF-hand 16.|Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACGTGCGCCGCATTGGCCTC	0.562000													4	108					0	0	0.150653	0	0
SLC3A2	6520	broad.mit.edu	37	11	62655847	62655847	+	Silent	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:62655847G>T	ENST00000377892.1	+	13	1892	c.1668G>T	c.(1666-1668)cgG>cgT	p.R556R	SLC3A2_ENST00000535296.1_Silent_p.R494R|SLC3A2_ENST00000338663.7_Silent_p.R424R|SLC3A2_ENST00000377891.2_Silent_p.R526R|SLC3A2_ENST00000377889.2_Silent_p.R463R|SLC3A2_ENST00000377890.2_Silent_p.R525R|SLC3A2_ENST00000536981.1_Silent_p.R70R|SLC3A2_ENST00000538682.1_3'UTR			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	525					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.R556R(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TGTTCCGGCGGCTGAGTGACC	0.587000													22	69					1.50039e-11	1.71171e-11	0.608945	1	0
NUTM1	256646	broad.mit.edu	37	15	34648621	34648621	+	Silent	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:34648621A>G	ENST00000537011.1	+	8	2794	c.2412A>G	c.(2410-2412)ctA>ctG	p.L804L	NUTM1_ENST00000333756.4_Silent_p.L776L|NUTM1_ENST00000438749.3_Silent_p.L794L					NUT midline carcinoma, family member 1																		GAGAAACCCTAGTACCTGGGG	0.537000													15	81					0	0	0.500413	0	0
TMC2	117532	broad.mit.edu	37	20	2542577	2542577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:2542577C>T	ENST00000358864.1	+	4	490	c.475C>T	c.(475-477)Cag>Tag	p.Q159*		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	159	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATCCTGGAGCAGGTGGAAGA	0.627000													13	70					0	0	0.457914	0	0
SPAG16	79582	broad.mit.edu	37	2	215274872	215274872	+	Silent	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:215274872T>C	ENST00000331683.5	+	16	1824	c.1729T>C	c.(1729-1731)Tta>Cta	p.L577L	AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	577					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGTCGAGTTTTAGCTCAGGC	0.408000													21	47					0	0	0.592651	0	0
PKN2	5586	broad.mit.edu	37	1	89271671	89271671	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:89271671G>C	ENST00000370521.3	+	12	2133	c.1774G>C	c.(1774-1776)Gaa>Caa	p.E592Q	PKN2_ENST00000370513.5_Missense_Mutation_p.E544Q|PKN2_ENST00000544045.1_Missense_Mutation_p.E266Q|PKN2_ENST00000370505.3_Missense_Mutation_p.E435Q|PKN2_ENST00000316005.7_3'UTR	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	592					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGAATCTTCTGAATTAAGAGT	0.388000													8	50					0	0	0.307466	0	0
DKK2	27123	broad.mit.edu	37	4	107847051	107847051	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:107847051G>A	ENST00000285311.3	-	2	983	c.278C>T	c.(277-279)cCc>cTc	p.P93L	DKK2_ENST00000513208.1_5'UTR|DKK2_ENST00000510463.1_Missense_Mutation_p.P47L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	93	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCCTTGGTGGGGACTGTGGCA	0.512000													3	88					0	0	0.115264	0	0
NEURL4	84461	broad.mit.edu	37	17	7230951	7230951	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7230951C>A	ENST00000399464.2	-	2	550	c.535G>T	c.(535-537)Ggt>Tgt	p.G179C	NEURL4_ENST00000315614.7_Missense_Mutation_p.G179C|NEURL4_ENST00000570460.1_Missense_Mutation_p.G179C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCCACACCGCAATCCCGC	0.652000													32	43					2.20262e-25	2.60456e-25	0.769981	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113547	55113547	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:55113547C>A	ENST00000370862.3	+	2	670	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	112					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCAGCCACACTGGTCGTGGA	0.443000													18	168					0.000132079	0.000141701	0.575678	1	0
LDHAL6B	92483	broad.mit.edu	37	15	59499449	59499449	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:59499449G>A	ENST00000307144.4	+	1	408	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	104					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GGATCTTGATGAAGACAAACT	0.438000													18	122					0	0	0.539581	0	0
AIM1	202	broad.mit.edu	37	6	107016350	107016350	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:107016350G>A	ENST00000369066.3	+	20	5568	c.5081G>A	c.(5080-5082)gGc>gAc	p.G1694D	AIM1_ENST00000535438.1_Missense_Mutation_p.G513D	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1694	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTTTTAGGGGGCACACAGTAT	0.398000													4	127					0	0	0.184627	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066855	46066855	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr21:46066855C>T	ENST00000334670.8	+	1	525	c.480C>T	c.(478-480)acC>acT	p.T160T	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	154	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GTGTGTCCACCTGCTCTGAGG	0.637000													86	157					0	0	0.870114	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913049	54913049	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:54913049G>C	ENST00000474759.1	+	19	1763	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R572T|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R572T|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R478T|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	572						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTTTAGTTGAGAAATGCTATG	0.408000													3	26					0	0	0.115264	0	0
FAM184A	79632	broad.mit.edu	37	6	119324126	119324126	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:119324126C>G	ENST00000338891.7	-	9	2469	c.2026G>C	c.(2026-2028)Gat>Cat	p.D676H	FAM184A_ENST00000368475.4_Missense_Mutation_p.D556H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.D556H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D676H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	676										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCTCTCGATCTTTCAACTGC	0.358000													11	89					0	0	0.361761	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719836	48719836	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:48719836C>T	ENST00000294129.2	-	3	550	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R144Q|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R144Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	144					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGTGCTGCCGCTCGAACCC	0.597000													14	133					0	0	0.435327	0	0
CASC1	55259	broad.mit.edu	37	12	25308336	25308336	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:25308336C>A	ENST00000354189.5	-	5	418	c.383G>T	c.(382-384)aGg>aTg	p.R128M	CASC1_ENST00000537577.1_De_novo_Start_InFrame|CASC1_ENST00000395987.3_Missense_Mutation_p.R70M|CASC1_ENST00000395990.2_Missense_Mutation_p.R24M|CASC1_ENST00000320267.9_Missense_Mutation_p.R64M|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000545133.1_Missense_Mutation_p.R5M	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	64										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)			TTCATTTCTCCTTTCTAGATC	0.343000													7	20					0.0381472	0.0393621	0.278610	1	0
FCRL5	83416	broad.mit.edu	37	1	157497570	157497570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:157497570C>T	ENST00000361835.3	-	9	1954	c.1797G>A	c.(1795-1797)tgG>tgA	p.W599*	FCRL5_ENST00000368191.3_Nonsense_Mutation_p.W514*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.W599*|FCRL5_ENST00000356953.4_Nonsense_Mutation_p.W599*	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	599	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGATAAAACCAGTACAGGA	0.582000													21	85					0	0	0.624587	0	0
IGHD	3495	broad.mit.edu	37	14	106306754	106306754	+	RNA	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:106306754G>A	ENST00000390556.2	-	0	1073																											GAGTCCTCGTGGCTGACCACA	0.692000													3	14					0	0	0.115264	0	0
MASP2	10747	broad.mit.edu	37	1	11090260	11090260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:11090260C>A	ENST00000400897.3	-	10	1285	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	424	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTGATTTTTCTCCTTTGGAG	0.423000													15	46					1.5739e-10	1.77063e-10	0.500413	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													3	106					0	0	0.150653	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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)			40	42					1.62957e-23	1.91298e-23	0.840704	1	0
INTS1	26173	broad.mit.edu	37	7	1528988	1528988	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:1528988C>T	ENST00000389470.4	-	19	2693	c.2694G>A	c.(2692-2694)gtG>gtA	p.V898V	INTS1_ENST00000404767.3_Silent_p.V770V			Q8N201	INT1_HUMAN	integrator complex subunit 1	770					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ACTTGGTCATCACCATCTCCA	0.682000													4	18					0	0	0.150653	0	0
OR2F2	135948	broad.mit.edu	37	7	143632931	143632931	+	Silent	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:143632931T>G	ENST00000408955.2	+	1	673	c.606T>G	c.(604-606)tcT>tcG	p.S202S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCATGGTGTCTAGCATTGTTC	0.478000													15	56					0	0	0.479597	0	0
PER1	5187	broad.mit.edu	37	17	8047060	8047060	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:8047060T>G	ENST00000317276.4	-	19	2833	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_ENST00000581082.1_Missense_Mutation_p.T843P|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	866	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.T866P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					4	24					0	0	0.278610	0	0
MYH6	4624	broad.mit.edu	37	14	23874010	23874010	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:23874010C>A	ENST00000405093.3	-	7	622	c.552G>T	c.(550-552)aaG>aaT	p.K184N	MYH6_ENST00000356287.3_Missense_Mutation_p.K184N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	184	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGTTCACAGTCTTCCCCGCCC	0.552000													7	58					1.06961e-07	1.17079e-07	0.278610	1	0
SETBP1	26040	broad.mit.edu	37	18	42530201	42530201	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr18:42530201C>G	ENST00000282030.5	+	4	1192	c.896C>G	c.(895-897)cCa>cGa	p.P299R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	299						nucleus	DNA binding			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)		CACAGCTCACCAGCCCCACCC	0.572000									Schinzel-Giedion syndrome				12	59					0	0	0.387290	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148715178	148715178	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:148715178A>T	ENST00000296721.4	+	18	2274	c.2176A>T	c.(2176-2178)Aac>Tac	p.N726Y	AFAP1L1_ENST00000515000.1_Intron	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	726							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAACCCCAGAACAGCGTTCC	0.488000													5	93					0	0	0.217242	0	0
BEND4	389206	broad.mit.edu	37	4	42145927	42145927	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:42145927G>T	ENST00000502486.1	-	3	1151	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	BEND4_ENST00000504360.1_Missense_Mutation_p.S187Y	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	191										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AGAATGGTTGGAGTCCAGGAG	0.468000													3	17					0.004672	0.0049147	0.115264	1	0
SFMBT2	57713	broad.mit.edu	37	10	7423850	7423850	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:7423850G>C	ENST00000361972.4	-	2	101	c.11C>G	c.(10-12)aCt>aGt	p.T4S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.T4S|SFMBT2_ENST00000397160.3_Missense_Mutation_p.T4S|SFMBT2_ENST00000379713.3_Missense_Mutation_p.T4S|SFMBT2_ENST00000379711.2_Missense_Mutation_p.T4S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	4					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGCTGACAAAGTGCTCTCCAT	0.398000													28	53					0	0	0.717897	0	0
FBXL5	26234	broad.mit.edu	37	4	15632370	15632370	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:15632370C>A	ENST00000341285.3	-	6	935	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	FBXL5_ENST00000382358.4_Missense_Mutation_p.D145Y|FBXL5_ENST00000412094.2_Missense_Mutation_p.D254Y	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	271					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CATTCATCATCAGGTTCAGTA	0.373000													3	44					0.150653	0.154467	0.150653	1	0
NDST4	64579	broad.mit.edu	37	4	115773929	115773929	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:115773929T>G	ENST00000264363.2	-	8	2446	c.1768A>C	c.(1768-1770)Act>Cct	p.T590P		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	590	Heparan sulfate N-sulfotransferase 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)		TGGTCACAAGTTTTCTCTCTG	0.348000													9	28					0	0	0.335167	0	0
CD1D	912	broad.mit.edu	37	1	158151354	158151354	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:158151354C>T	ENST00000368171.3	+	3	670	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	57					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGACGCACAGCTGGAGCAACG	0.632000													50	145					0	0	0.870114	0	0
GK5	256356	broad.mit.edu	37	3	141884493	141884493	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:141884493G>A	ENST00000392993.2	-	16	1712	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	521					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTCATGGAGCGTTTCACTGCT	0.393000													19	146					0	0	0.592651	0	0
ATRN	8455	broad.mit.edu	37	20	3541513	3541513	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:3541513C>G	ENST00000262919.5	+	8	1476	c.1408C>G	c.(1408-1410)Ctc>Gtc	p.L470V	ATRN_ENST00000446916.2_Missense_Mutation_p.L470V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	470					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TCACTGCCCTCTCTATGGATA	0.418000													5	66					0	0	0.184627	0	0
KLHL4	56062	broad.mit.edu	37	X	86890582	86890582	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:86890582C>T	ENST00000373119.4	+	9	1877	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	KLHL4_ENST00000373114.4_Missense_Mutation_p.R578C	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	578						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATTGGTGGACGTGATGGAAG	0.398000													11	12					0	0	0.457914	0	0
KIF16B	55614	broad.mit.edu	37	20	16359581	16359581	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:16359581G>C	ENST00000354981.2	-	19	3223	c.3066C>G	c.(3064-3066)caC>caG	p.H1022Q	KIF16B_ENST00000408042.1_Missense_Mutation_p.H1022Q|KIF16B_ENST00000355755.3_Missense_Mutation_p.H1022Q|KIF16B_ENST00000378003.2_Missense_Mutation_p.H248Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1022	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.H1022Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAGGGTGGAGTGCCTCTGCA	0.597000													6	106					0	0	0.278610	0	0
SIL1	64374	broad.mit.edu	37	5	138283163	138283163	+	Splice_Site	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:138283163C>G	ENST00000394817.2	-	10	1169		c.e10-1		SIL1_ENST00000509534.1_Splice_Site|SIL1_ENST00000265195.5_Splice_Site|SIL1_ENST00000515008.1_Splice_Site	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor						intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CGGCGAACATCTGCCATCCGC	0.632000									Marinesco-Sjgren syndrome				5	37					0	0	0.217242	0	0
CCNA2	890	broad.mit.edu	37	4	122742139	122742139	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:122742139T>G	ENST00000274026.5	-	3	868	c.565A>C	c.(565-567)Atg>Ctg	p.M189L		NM_001237.3	NP_001228.1	P20248	CCNA2_HUMAN	cyclin A2	189					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TTTACCTCCATTTCCCTAAGG	0.313000													9	77					0	0	0.307466	0	0
MKI67	4288	broad.mit.edu	37	10	129907526	129907526	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:129907526C>G	ENST00000368654.3	-	13	2953	c.2578G>C	c.(2578-2580)Gat>Cat	p.D860H	MKI67_ENST00000368653.3_Missense_Mutation_p.D500H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	860					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCTCAGTATCTGAAGTTTTT	0.433000													18	171					0	0	0.539581	0	0
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547000													4	104					0	0	0.150653	0	0
CEP290	80184	broad.mit.edu	37	12	88535027	88535027	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:88535027G>A	ENST00000552810.1	-	2	401	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	CEP290_ENST00000309041.7_Missense_Mutation_p.R20C	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	20					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTTCTTGACGGGGCAGGTCA	0.333000													14	27					0	0	0.500413	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	26					0	0	0.184627	0	0
ATP10B	23120	broad.mit.edu	37	5	160063305	160063305	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:160063305A>T	ENST00000327245.5	-	11	1858	c.1012T>A	c.(1012-1014)Tgg>Agg	p.W338R	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	338					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCCCATTCCAGATGCTGTGA	0.493000													3	58					0	0	0.184627	0	0
ZIM3	114026	broad.mit.edu	37	19	57646638	57646638	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:57646638A>C	ENST00000269834.1	-	5	1452	c.1067T>G	c.(1066-1068)aTt>aGt	p.I356S		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAGTGTGAATTTTCTCATG	0.388000													21	133					0	0	0.592651	0	0
RGS3	5998	broad.mit.edu	37	9	116356436	116356436	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr9:116356436G>A	ENST00000462403.1	+	1	671	c.237G>A	c.(235-237)gcG>gcA	p.A79A	RGS3_ENST00000374134.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000374140.2_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAGAGAGCGTGTGTGGCTG	0.667000													13	54					0	0	0.457914	0	0
ZNF441	126068	broad.mit.edu	37	19	11888528	11888528	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:11888528A>G	ENST00000357901.4	+	2	208	c.106A>G	c.(106-108)Acc>Gcc	p.T36A	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATGCAGGAAACCATCAGAAA	0.423000													10	45					0	0	0.335167	0	0
KIFAP3	22920	broad.mit.edu	37	1	170001123	170001123	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:170001123C>G	ENST00000367765.1	-	8	2126	c.625G>C	c.(625-627)Gat>Cat	p.D209H	KIFAP3_ENST00000538366.1_Missense_Mutation_p.D171H|KIFAP3_ENST00000361580.2_Missense_Mutation_p.D249H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D205H	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	249					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGGTCTTCATCAAGTAAACAA	0.333000													10	82					0	0	0.335167	0	0
CPSF7	79869	broad.mit.edu	37	11	61196680	61196680	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:61196680T>A	ENST00000340437.4	-	2	237	c.157A>T	c.(157-159)Ata>Tta	p.I53L	CPSF7_ENST00000448745.1_Missense_Mutation_p.I10L|CPSF7_ENST00000439958.3_Missense_Mutation_p.I10L|CPSF7_ENST00000541963.1_Missense_Mutation_p.I10L|CPSF7_ENST00000394888.4_Missense_Mutation_p.I10L	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	10	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TCAGCATATATATCAATCAAG	0.478000													35	212					0	0	0.796494	0	0
FBXO4	26272	broad.mit.edu	37	5	41929884	41929884	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:41929884C>T	ENST00000296812.2	+	3	567	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	FBXO4_ENST00000281623.3_Silent_p.L171L|FBXO4_ENST00000509134.1_Silent_p.L171L	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	171					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	p.L171M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TTTACACTCCCTGATCATTCA	0.403000													15	100					0	0	0.500413	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245229	65245229	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:65245229G>A	ENST00000234256.3	+	6	1302	c.1059G>A	c.(1057-1059)atG>atA	p.M353I	SLC1A4_ENST00000531327.1_Missense_Mutation_p.M55I	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	353					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTCTATGATGAAGTGCATTG	0.517000													36	88					0	0	0.812448	0	0
MYH8	4626	broad.mit.edu	37	17	10293886	10293886	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:10293886C>G	ENST00000403437.2	-	40	5793	c.5699G>C	c.(5698-5700)cGc>cCc	p.R1900P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1900					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGGAGTTTGCGGAATTTAGA	0.453000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	143					0	0	0.557998	0	0
MORF4L1	10933	broad.mit.edu	37	15	79172896	79172896	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:79172896A>G	ENST00000331268.5	+	3	334	c.130A>G	c.(130-132)Ata>Gta	p.I44V	MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000426013.2_Missense_Mutation_p.I44V|MORF4L1_ENST00000379535.4_Missense_Mutation_p.I69V|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.I44V	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	44	Interaction with MYST1.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GAAATACTTCATACATTACAG	0.289000													10	30					0	0	0.435327	0	0
HS2ST1	9653	broad.mit.edu	37	1	87558299	87558299	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:87558299T>C	ENST00000370550.5	+	4	898	c.535T>C	c.(535-537)Ttt>Ctt	p.F179L	HS2ST1_ENST00000356813.4_Missense_Mutation_p.F153L|HS2ST1_ENST00000370551.4_Missense_Mutation_p.F179L|RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.F153L	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	179						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		CTTTCTGAGATTTGGAGATGA	0.299000													7	69					0	0	0.278610	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137506	40137506	+	Silent	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:40137506T>G	ENST00000278198.2	-	2	2300	c.337A>C	c.(337-339)Aga>Cga	p.R113R	LRRC4C_ENST00000528697.1_Silent_p.R113R|LRRC4C_ENST00000527150.1_Silent_p.R113R|LRRC4C_ENST00000530763.1_Silent_p.R113R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	113					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAATGGTTCTGATATGGTTC	0.438000													16	45					0	0	0.520397	0	0
ACMSD	130013	broad.mit.edu	37	2	135621074	135621074	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:135621074A>G	ENST00000356140.5	+	5	495	c.359A>G	c.(358-360)cAg>cGg	p.Q120R	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.Q62R|ACMSD_ENST00000392928.1_Missense_Mutation_p.Q62R	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	120					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTGCCCATGCAGGCCCCTGAG	0.587000													3	73					0	0	0.115264	0	0
PLCB1	23236	broad.mit.edu	37	20	8352093	8352093	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:8352093C>G	ENST00000378641.3	+	3	717	c.242C>G	c.(241-243)cCc>cGc	p.P81R	PLCB1_ENST00000378637.2_Missense_Mutation_p.P81R|PLCB1_ENST00000338037.6_Missense_Mutation_p.P81R	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	81					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCAAAGCTCCCAAGGTAGGA	0.458000													9	51					0	0	0.307466	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77397755	77397755	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:77397755T>G	ENST00000282849.5	-	6	1418	c.1000A>C	c.(1000-1002)Att>Ctt	p.I334L		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	334	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCACTTCCAATAGTCCCATCT	0.383000													8	41					0	0	0.278610	0	0
THBS1	7057	broad.mit.edu	37	15	39884784	39884784	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:39884784G>A	ENST00000260356.5	+	17	2713	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	850					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGACTCAGACCGCATTGG	0.448000													5	14					0	0	0.217242	0	0
MAP2K2	5605	broad.mit.edu	37	19	4110577	4110577	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:4110577G>A	ENST00000262948.5	-	3	633	c.380C>T	c.(379-381)tCg>tTg	p.S127L	MAP2K2_ENST00000394867.4_Missense_Mutation_p.S30L|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	127	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGTACGGCGAGTTGCATTC	0.612000													8	48					0	0	0.278610	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597106	136597106	+	Silent	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:136597106C>G	ENST00000531224.1	-	5	1809	c.1557G>C	c.(1555-1557)ctG>ctC	p.L519L	BCLAF1_ENST00000392348.2_Silent_p.L517L|BCLAF1_ENST00000353331.4_Silent_p.L517L|BCLAF1_ENST00000527536.1_Silent_p.L519L|BCLAF1_ENST00000527759.1_Silent_p.L517L|BCLAF1_ENST00000530767.1_Silent_p.L346L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	519					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCGTGCATCCAGATTCTTGT	0.423000													12	310					0	0	0.411799	0	0
RNMTL1	55178	broad.mit.edu	37	17	691248	691248	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:691248G>A	ENST00000304478.4	+	3	709	c.603G>A	c.(601-603)aaG>aaA	p.K201K		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	201					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CATATCCAAAGACTCAGCTTC	0.483000													14	187					0	0	0.500413	0	0
MNT	4335	broad.mit.edu	37	17	2298243	2298243	+	Silent	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:2298243T>G	ENST00000174618.4	-	2	984	c.579A>C	c.(577-579)ccA>ccC	p.P193P		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	193					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CCAGCGTGGGTGGGGGCGGCT	0.672000													4	13					0	0	0.217242	0	0
FLII	2314	broad.mit.edu	37	17	18156743	18156743	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:18156743C>T	ENST00000327031.4	-	9	1110	c.885G>A	c.(883-885)aaG>aaA	p.K295K	FLII_ENST00000584444.1_5'UTR|FLII_ENST00000379450.4_Silent_p.K210K|FLII_ENST00000579294.1_Silent_p.K284K|FLII_ENST00000578558.1_Silent_p.K295K|FLII_ENST00000545457.2_Silent_p.K241K	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	295	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GGTACAGCTTCTTCAGCTTGC	0.587000													29	61					0	0	0.740014	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838565	155838565	+	Silent	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:155838565C>G	ENST00000490337.1	+	1	229	c.165C>G	c.(163-165)ctC>ctG	p.L55L	KCNAB1_ENST00000389636.5_Silent_p.L55L	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	55						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGCCAGCTCAGGGCGCGTC	0.557000													10	61					0	0	0.387290	0	0
DDX46	9879	broad.mit.edu	37	5	134121257	134121257	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:134121257G>C	ENST00000452510.2	+	11	1603	c.1445G>C	c.(1444-1446)gGa>gCa	p.G482A	DDX46_ENST00000354283.4_Missense_Mutation_p.G482A|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	482	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTACGGAGGAACAGGAATC	0.363000													8	68					0	0	0.335167	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130370430	130370430	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:130370430C>T	ENST00000529410.1	+	6	585	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R36W|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R36W|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R36W|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R36W|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R36W			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	36					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TTGCTAGTTTCGGGTAAATGA	0.368000													8	25					0	0	0.361761	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28216933	28216933	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr21:28216933G>A	ENST00000284984.2	-	1	795	c.341C>T	c.(340-342)cCg>cTg	p.P114L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	114					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTCCGGAAGCGGCGTCTCGGA	0.677000											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	0.184627	0	0
ZNF493	284443	broad.mit.edu	37	19	21606158	21606158	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:21606158A>T	ENST00000392288.2	+	4	806	c.697A>T	c.(697-699)Act>Tct	p.T233S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.T105S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GAGAGTTCATACTGGAGAGAA	0.368000													17	47					0	0	0.500413	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104054601	104054601	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr8:104054601G>A	ENST00000521514.1	+	0	172				ATP6V1C1_ENST00000518857.1_Intron|ATP6V1C1_ENST00000395862.3_Missense_Mutation_p.D56N|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.D56N			P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TGGCTTGTCAGATGAACTGGC	0.363000													12	128					0	0	0.435327	0	0
ABHD8	79575	broad.mit.edu	37	19	17411962	17411962	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:17411962T>C	ENST00000247706.3	-	2	703	c.464A>G	c.(463-465)aAg>aGg	p.K155R	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	155							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GATGGTCCTCTTGGGGCGCCT	0.682000													13	45					0	0	0.435327	0	0
TRIM33	51592	broad.mit.edu	37	1	114948369	114948369	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:114948369C>G	ENST00000358465.2	-	15	2514	c.2431G>C	c.(2431-2433)Gag>Cag	p.E811Q	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.E443Q|TRIM33_ENST00000369543.2_Missense_Mutation_p.E811Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	811			E -> K (in a lung adenocarcinoma sample; somatic mutation).		negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	p.E811K(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCTACTCTCAGGACTGCTC	0.373000			T	RET	papillary thyroid								3	92					0	0	0.115264	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	18					0	0	0.150653	0	0
USP33	23032	broad.mit.edu	37	1	78183606	78183606	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:78183606G>C	ENST00000370793.1	-	18	2303	c.1957C>G	c.(1957-1959)Caa>Gaa	p.Q653E	USP33_ENST00000370794.3_Missense_Mutation_p.Q622E|USP33_ENST00000370792.3_Missense_Mutation_p.Q645E|USP33_ENST00000357428.1_Missense_Mutation_p.Q653E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	653					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTCACAATTTGAGCTGGACTA	0.363000													5	80					0	0	0.184627	0	0
MYO3A	53904	broad.mit.edu	37	10	26482144	26482144	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:26482144A>T	ENST00000265944.5	+	32	4615	c.4449A>T	c.(4447-4449)aaA>aaT	p.K1483N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1483					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTGTCTGTAAAGGAGAGGAGC	0.333000													3	30					0	0	0.115264	0	0
OR5M8	219484	broad.mit.edu	37	11	56258421	56258421	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:56258421G>T	ENST00000327216.2	-	1	450	c.426C>A	c.(424-426)ttC>ttA	p.F142L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCGTGATGAGGAAGGAGCACA	0.512000													19	85					5.03518e-11	5.70419e-11	0.557998	1	0
DOCK10	55619	broad.mit.edu	37	2	225652094	225652094	+	Silent	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:225652094T>C	ENST00000409592.3	-	49	5534	c.5421A>G	c.(5419-5421)ctA>ctG	p.L1807L	DOCK10_ENST00000258390.7_Silent_p.L1813L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1813	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACACATGTATAGCTGCTCCA	0.428000													65	174					0	0	0.870114	0	0
CADM2	253559	broad.mit.edu	37	3	85961658	85961658	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:85961658C>G	ENST00000383699.3	+	6	1292	c.665C>G	c.(664-666)aCc>aGc	p.T222S	CADM2_ENST00000407528.2_Missense_Mutation_p.T213S|CADM2_ENST00000405615.2_Missense_Mutation_p.T215S	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	213					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTCAATGCCACCCCTCAGGTA	0.488000													13	30					0	0	0.457914	0	0
ZNF99	7652	broad.mit.edu	37	19	22939994	22939994	+	Silent	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:22939994A>G	ENST00000397104.3	-	6	2336	c.2337T>C	c.(2335-2337)tgT>tgC	p.C779C						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGCTTTGCCACATTCTTCAC	0.373000													8	65					0	0	0.278610	0	0
ZNF721	170960	broad.mit.edu	37	4	436363	436363	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:436363C>T	ENST00000338977.5	-	2	1905	c.1857G>A	c.(1855-1857)caG>caA	p.Q619Q	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.Q631Q					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAATTTTCTTCTGTTGATTCA	0.403000													29	285					0	0	0.760397	0	0
GRM1	2911	broad.mit.edu	37	6	146480529	146480529	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:146480529C>T	ENST00000392299.2	+	3	1216	c.746C>T	c.(745-747)gCc>gTc	p.A249V	GRM1_ENST00000492807.2_Missense_Mutation_p.A249V|GRM1_ENST00000361719.2_Missense_Mutation_p.A249V|GRM1_ENST00000507907.1_Missense_Mutation_p.A249V|GRM1_ENST00000355289.4_Missense_Mutation_p.A249V|GRM1_ENST00000282753.1_Missense_Mutation_p.A249V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	249					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAGCTGGCTGCCCAGGAAGGC	0.507000													9	82					0	0	0.307466	0	0
KALRN	8997	broad.mit.edu	37	3	124415027	124415027	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:124415027G>C	ENST00000360013.3	+	54	7751	c.7624G>C	c.(7624-7626)Gac>Cac	p.D2542H	KALRN_ENST00000428018.2_Missense_Mutation_p.D813H|KALRN_ENST00000291478.4_Missense_Mutation_p.D845H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2541	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATGCCCCAAGACAGTGGGAT	0.463000													23	154					0	0	0.639603	0	0
POTEA	340441	broad.mit.edu	37	8	43147925	43147925	+	RNA	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr8:43147925A>G	ENST00000522175.2	+	0	300							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAGAAGAAGAGGTAACCGGG	0.627000													3	56					0	0	0.115264	0	0
FRY	10129	broad.mit.edu	37	13	32653003	32653003	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr13:32653003C>A	ENST00000380250.3	+	2	599	c.103C>A	c.(103-105)Ccg>Acg	p.P35T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CATCAAGCCTCCGGTTCCACC	0.478000													41	229					4.32679e-17	5.00672e-17	0.827153	1	0
HIST2H3D	653604	broad.mit.edu	37	1	149784913	149784913	+	Silent	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:149784913C>G	ENST00000331491.1	-	1	323	c.324G>C	c.(322-324)acG>acC	p.T108T		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	108					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGCACAGGTTCGTGTCTTCGA	0.627000													9	39					0	0	0.411799	0	0
LIMA1	51474	broad.mit.edu	37	12	50571764	50571764	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:50571764C>T	ENST00000547825.1	-	5	1726	c.457G>A	c.(457-459)Ggc>Agc	p.G153S	LIMA1_ENST00000341247.4_Missense_Mutation_p.G455S|LIMA1_ENST00000552823.1_Missense_Mutation_p.G295S|LIMA1_ENST00000552909.1_Missense_Mutation_p.G294S|LIMA1_ENST00000552783.1_Missense_Mutation_p.G296S|LIMA1_ENST00000394943.3_Missense_Mutation_p.G456S|LIMA1_ENST00000552491.1_Missense_Mutation_p.G152S	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	455					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGCCCAAAGCCTTCATCATAG	0.418000													8	163					0	0	0.278610	0	0
EGFLAM	133584	broad.mit.edu	37	5	38464020	38464020	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:38464020G>C	ENST00000322350.5	+	22	3308	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	EGFLAM_ENST00000336740.6_Missense_Mutation_p.D754H|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D131H|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000506135.1_Missense_Mutation_p.D131H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D354H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D131H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D996H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	996	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTGTCCACCGATTACCACAT	0.512000													11	54					0	0	0.387290	0	0
SLIT2	9353	broad.mit.edu	37	4	20482374	20482374	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:20482374A>T	ENST00000504154.1	+	6	755	c.503A>T	c.(502-504)gAt>gTt	p.D168V	SLIT2_ENST00000503823.1_Missense_Mutation_p.D168V|SLIT2_ENST00000503837.1_Missense_Mutation_p.D168V|SLIT2_ENST00000273739.5_Missense_Mutation_p.D168V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	168					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTATTGAAGATGGGGCATTC	0.458000													15	70					0	0	0.520397	0	0
CCL15	6359	broad.mit.edu	37	17	34325338	34325338	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:34325338C>T	ENST00000354059.4	-	3	778	c.226G>A	c.(226-228)Gag>Aag	p.E76K	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.E76K|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	76					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGAGCACTCGCTGCTCGTT	0.522000													3	41					0	0	0.115264	0	0
ABCA10	10349	broad.mit.edu	37	17	67189687	67189687	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:67189687C>A	ENST00000269081.4	-	15	2497	c.1588G>T	c.(1588-1590)Ggt>Tgt	p.G530C	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	530	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCTGCCCACCACTTAATTTT	0.299000													7	13					0.000274275	0.000290409	0.307466	1	0
WDFY3	23001	broad.mit.edu	37	4	85748035	85748035	+	Silent	SNP	T	T	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:85748035T>A	ENST00000322366.6	-	10	1463	c.1056A>T	c.(1054-1056)ccA>ccT	p.P352P	WDFY3_ENST00000295888.4_Silent_p.P352P			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	352						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAATACCAGCTGGTTTTAGTT	0.438000													7	50					0	0	0.278610	0	0
SFXN4	119559	broad.mit.edu	37	10	120917410	120917410	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:120917410G>A	ENST00000355697.2	-	8	463	c.444C>T	c.(442-444)ttC>ttT	p.F148F	SFXN4_ENST00000330036.6_Silent_p.F139F|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	148					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGATGCTGTTGAACGCTGCCA	0.418000													9	60					0	0	0.307466	0	0
DPYD	1806	broad.mit.edu	37	1	97981411	97981411	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:97981411C>A	ENST00000370192.3	-	13	1711	c.1611G>T	c.(1609-1611)atG>atT	p.M537I		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	537					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCAATCCGGCCATTTCTACAC	0.438000													5	51					1.024e-07	1.12849e-07	0.184627	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724942	7724942	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:7724942G>A	ENST00000303635.7	+	9	2542	c.2335G>A	c.(2335-2337)Gac>Aac	p.D779N	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D779N	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.D779N(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTGATCAACGACTTCATCTC	0.647000			T	WWTR1	epitheliod hemangioendothelioma								27	313					0	0	0.729181	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83357104	83357104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chrX:83357104G>A	ENST00000262752.2	-	18	1724	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	RPS6KA6_ENST00000495332.1_Intron|RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R573*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	573	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTTTCTCCTCGAAGTTGTTTT	0.368000													15	7					0	0	0.500413	0	0
DET1	55070	broad.mit.edu	37	15	89074302	89074302	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:89074302T>C	ENST00000564406.1	-	3	828	c.668A>G	c.(667-669)gAc>gGc	p.D223G	DET1_ENST00000558413.1_Intron|DET1_ENST00000444300.1_Missense_Mutation_p.D223G|DET1_ENST00000268148.8_Missense_Mutation_p.D212G	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	212						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GACCACCTTGTCACACTTGAA	0.502000													13	53					0	0	0.435327	0	0
CELSR3	1951	broad.mit.edu	37	3	48691215	48691215	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:48691215G>A	ENST00000544264.1	-	9	5565	c.5285C>T	c.(5284-5286)gCc>gTc	p.A1762V	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1762V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1762					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGGGATGGGCCATAGCTGA	0.577000													4	71					0	0	0.184627	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472940	22472940	+	RNA	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:22472940C>A	ENST00000557788.2	-	0	330																											TAATACACGGCCCTGTCCGCG	0.597000													7	351					4.3838e-07	4.76628e-07	0.435327	1	0
AFF3	3899	broad.mit.edu	37	2	100210748	100210748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:100210748C>A	ENST00000317233.4	-	14	1610	c.1375G>T	c.(1375-1377)Gaa>Taa	p.E459*	AFF3_ENST00000409579.1_Nonsense_Mutation_p.E484*|AFF3_ENST00000409236.1_Nonsense_Mutation_p.E459*|AFF3_ENST00000356421.2_Nonsense_Mutation_p.E484*	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	459					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATGCCGGTTCAGCCTGAAAG	0.433000													33	186					8.53417e-09	9.46943e-09	0.769981	1	0
SPATA16	83893	broad.mit.edu	37	3	172643242	172643242	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:172643242C>A	ENST00000351008.3	-	7	1305	c.1122G>T	c.(1120-1122)tgG>tgT	p.W374C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	374					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAAAAGATGACCAGTCAACTG	0.368000													16	68					5.35267e-07	5.78088e-07	0.557998	1	0
USP53	54532	broad.mit.edu	37	4	120213687	120213687	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr4:120213687C>G	ENST00000450251.1	+	15	3087	c.2543C>G	c.(2542-2544)tCt>tGt	p.S848C	USP53_ENST00000274030.6_Missense_Mutation_p.S848C			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	848					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GTTGATAACTCTGCTTCTGGG	0.393000													6	43					0	0	0.217242	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222789	44222789	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:44222789A>T	ENST00000393812.3	-	4	1096	c.953T>A	c.(952-954)cTg>cAg	p.L318Q	SLC35B2_ENST00000537814.1_Missense_Mutation_p.L185Q|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.L225Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	318					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGTTCTAGCAGTGAGCCCAC	0.557000													17	37					0	0	0.520397	0	0
PPP6R2	9701	broad.mit.edu	37	22	50862016	50862016	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr22:50862016C>T	ENST00000359139.3	+	10	1492	c.1098C>T	c.(1096-1098)tgC>tgT	p.C366C	PPP6R2_ENST00000395741.3_Silent_p.C367C|PPP6R2_ENST00000395744.3_Silent_p.C366C|PPP6R2_ENST00000216061.5_Silent_p.C366C	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	366						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGGAGCTCTGCCGGCTCAACA	0.627000													6	49					0	0	0.278610	0	0
PARD3	56288	broad.mit.edu	37	10	34671564	34671564	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:34671564G>C	ENST00000374789.3	-	9	1628	c.1303C>G	c.(1303-1305)Cca>Gca	p.P435A	PARD3_ENST00000545260.1_Missense_Mutation_p.P391A|PARD3_ENST00000374794.3_Missense_Mutation_p.P391A|PARD3_ENST00000350537.4_Missense_Mutation_p.P435A|PARD3_ENST00000346874.4_Missense_Mutation_p.P435A|PARD3_ENST00000340077.5_Missense_Mutation_p.P435A|PARD3_ENST00000374776.1_Missense_Mutation_p.P435A|PARD3_ENST00000374790.3_Missense_Mutation_p.P391A|PARD3_ENST00000545693.1_Missense_Mutation_p.P435A|PARD3_ENST00000374773.1_Missense_Mutation_p.P435A|PARD3_ENST00000374788.3_Missense_Mutation_p.P435A|PARD3_ENST00000544292.1_Missense_Mutation_p.P165A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	435					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCCGAGGCTGGAGCGGATGGT	0.502000													3	75					0	0	0.184627	0	0
NLRP8	126205	broad.mit.edu	37	19	56473581	56473581	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:56473581C>G	ENST00000291971.3	+	4	2262	c.2191C>G	c.(2191-2193)Cag>Gag	p.Q731E	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q731E	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	731						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGGCACCCTCAGTGCAAACT	0.478000													17	68					0	0	0.520397	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17953907	17953907	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:17953907A>G	ENST00000361221.3	+	15	1652	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E459G|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E459G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E498G|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.E256G|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.E206G|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.E276G	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	498	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGCTGGCTGAGAAGCTGAAC	0.627000													11	42					0	0	0.457914	0	0
TTN	7273	broad.mit.edu	37	2	179582358	179582358	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:179582358C>T	ENST00000589042.1	-	87	25467	c.25243G>A	c.(25243-25245)Gca>Aca	p.A8415T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A8098T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7171T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8098							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAAGAGTTGCTACATTATGA	0.428000													4	21					0	0	0.150653	0	0
COPRS	55352	broad.mit.edu	37	17	30179963	30179963	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:30179963C>G	ENST00000378634.2	-	3	470	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	COPRS_ENST00000302362.6_Missense_Mutation_p.E85Q					coordinator of PRMT5, differentiation stimulator																		TCAGAGTCCTCCTCATCCATG	0.522000													26	243					0	0	0.706142	0	0
C1orf173	127254	broad.mit.edu	37	1	75039018	75039018	+	Silent	SNP	T	T	C			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:75039018T>C	ENST00000326665.5	-	14	2594	c.2376A>G	c.(2374-2376)aaA>aaG	p.K792K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	792	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCCTCCCCTTTTCCCTGTA	0.522000													3	149					0	0	0.115264	0	0
MUC6	4588	broad.mit.edu	37	11	1028716	1028716	+	Silent	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr11:1028716G>T	ENST00000421673.2	-	13	1571	c.1521C>A	c.(1519-1521)ctC>ctA	p.L507L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	507	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGGACCACGAGCTCCAGCC	0.642000													4	19					0.00024832	0.000264657	0.150653	1	0
WDR90	197335	broad.mit.edu	37	16	705335	705335	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr16:705335C>T	ENST00000549091.1	+	15	1677	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.R529W	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	529										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGCAGTGTGCGGCTCTGGCG	0.697000													3	33					0	0	0.150653	0	0
EBF3	253738	broad.mit.edu	37	10	131761669	131761669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr10:131761669C>A	ENST00000368648.3	-	2	325	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	EBF3_ENST00000355311.5_Nonsense_Mutation_p.E85*	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	85					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGGTCCTTTCAATCTCCACC	0.557000													26	121					1.39806e-14	1.60628e-14	0.729181	1	0
NRSN1	140767	broad.mit.edu	37	6	24145830	24145830	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:24145830G>T	ENST00000378491.4	+	4	545	c.244G>T	c.(244-246)Gtg>Ttg	p.V82L		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	82					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTCTGGCAGTGGGCTTTCT	0.478000													14	149					4.36969e-10	4.882e-10	0.435327	1	0
CLIP2	7461	broad.mit.edu	37	7	73795176	73795176	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:73795176C>T	ENST00000223398.6	+	11	2789	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	CLIP2_ENST00000395060.1_Missense_Mutation_p.T821M|CLIP2_ENST00000361545.5_Missense_Mutation_p.T786M	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	821						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACGATCAGGACGAAGGAAACT	0.602000													26	85					0	0	0.717897	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152344	72152344	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:72152344A>T	ENST00000555818.1	+	10	3718	c.3370A>T	c.(3370-3372)Agg>Tgg	p.R1124W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1124W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1124W|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R599W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1124					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCACTAGAGAGGCGGTAAGT	0.507000													7	33					0	0	0.278610	0	0
NEXN	91624	broad.mit.edu	37	1	78383306	78383306	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:78383306A>T	ENST00000334785.7	+	3	267	c.83A>T	c.(82-84)aAg>aTg	p.K28M	NEXN_ENST00000294624.8_Missense_Mutation_p.K28M|NEXN_ENST00000457030.1_Missense_Mutation_p.K28M|NEXN_ENST00000330010.8_Intron	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	28					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAACTTGGCAAGGGTGATGTA	0.338000													6	61					0	0	0.278610	0	0
FMN1	342184	broad.mit.edu	37	15	33358886	33358886	+	Silent	SNP	T	T	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr15:33358886T>A	ENST00000334528.9	-	1	1199	c.1200A>T	c.(1198-1200)acA>acT	p.T400T	FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000558197.1_Silent_p.T400T	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	497	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CCTCCAGGGCTGTCTCTGGCG	0.577000													16	58					0	0	0.479597	0	0
CD22	933	broad.mit.edu	37	19	35832025	35832025	+	Silent	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr19:35832025C>T	ENST00000085219.5	+	7	1557	c.1491C>T	c.(1489-1491)gtC>gtT	p.V497V	CD22_ENST00000270311.6_Silent_p.V377V|CD22_ENST00000419549.2_Silent_p.V325V|CD22_ENST00000544992.2_Silent_p.V497V|CD22_ENST00000341773.6_Silent_p.V320V|CD22_ENST00000536635.2_Silent_p.V409V|CD22_ENST00000594250.1_Silent_p.V320V	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	497	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTCCCCTGTCGCCCTGAATG	0.627000													36	64					0	0	0.788014	0	0
HACL1	26061	broad.mit.edu	37	3	15609397	15609397	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:15609397C>T	ENST00000321169.5	-	14	1730	c.1363G>A	c.(1363-1365)Gac>Aac	p.D455N	HACL1_ENST00000456194.2_Missense_Mutation_p.D428N|HACL1_ENST00000451445.2_Missense_Mutation_p.D373N|HACL1_ENST00000457447.2_Missense_Mutation_p.D395N|HACL1_ENST00000435217.2_Missense_Mutation_p.D214N	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	455	Thiamine pyrophosphate binding.				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						AATGCACTGTCTCCTTCCACA	0.443000													19	210					0	0	0.557998	0	0
RCOR1	23186	broad.mit.edu	37	14	103187405	103187405	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr14:103187405C>A	ENST00000262241.6	+	9	1341	c.1115C>A	c.(1114-1116)cCa>cAa	p.P372Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.P369Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	369	Interaction with KDM1A.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GGAATAGAACCATATCGACTT	0.303000													5	159					0.0293803	0.0305104	0.248553	1	0
RBM39	9584	broad.mit.edu	37	20	34317447	34317447	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr20:34317447G>A	ENST00000361162.6	-	5	683	c.299C>T	c.(298-300)tCc>tTc	p.S100F	RBM39_ENST00000253363.6_Missense_Mutation_p.S100F|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Intron	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	100					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TTTTGGTCCGGAGCTAAAAAG	0.373000													4	53					0	0	0.184627	0	0
TRIP12	9320	broad.mit.edu	37	2	230663654	230663654	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:230663654G>A	ENST00000283943.5	-	22	3372	c.3194C>T	c.(3193-3195)gCa>gTa	p.A1065V	TRIP12_ENST00000543084.1_3'UTR|TRIP12_ENST00000389045.3_Missense_Mutation_p.A795V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1113V	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1065					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CGCAGTCCGTGCTGGCTCAAT	0.478000													19	52					0	0	0.557998	0	0
MYO10	4651	broad.mit.edu	37	5	16761646	16761646	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr5:16761646C>T	ENST00000513610.1	-	17	2120	c.1666G>A	c.(1666-1668)Gat>Aat	p.D556N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	556	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTCGGACATCATATTGCACC	0.383000													18	107					0	0	0.557998	0	0
WRAP53	55135	broad.mit.edu	37	17	7592167	7592167	+	Silent	SNP	A	A	G	rs111433356		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr17:7592167A>G	ENST00000316024.5	+	1	2549	c.201A>G	c.(199-201)ctA>ctG	p.L67L	WRAP53_ENST00000431639.2_Silent_p.L67L|WRAP53_ENST00000534050.1_Silent_p.L67L|WRAP53_ENST00000396463.2_Silent_p.L67L|WRAP53_ENST00000457584.2_Silent_p.L67L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	67					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCCAGGAGCTACGGGAGGGGG	0.577000													29	90					0	0	0.740014	0	0
WDR3	10885	broad.mit.edu	37	1	118495242	118495242	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr1:118495242A>G	ENST00000349139.4	+	19	2155	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	703						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AGACTTTGGGAGAGAACAAGG	0.463000													3	122					0	0	0.150653	0	0
TRPV5	56302	broad.mit.edu	37	7	142625874	142625874	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr7:142625874T>G	ENST00000265310.1	-	6	1022	c.674A>C	c.(673-675)cAt>cCt	p.H225P	TRPV5_ENST00000442623.1_Missense_Mutation_p.H225P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	225					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGGTCCCCATGTCCATCGTA	0.567000													4	92					0	0	0.217242	0	0
MDN1	23195	broad.mit.edu	37	6	90425374	90425374	+	Silent	SNP	G	G	A			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr6:90425374G>A	ENST00000369393.3	-	45	6973	c.6858C>T	c.(6856-6858)ttC>ttT	p.F2286F	MDN1_ENST00000428876.1_Silent_p.F2286F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2286					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAAATACCTGAAATTGGGAT	0.403000													10	113					0	0	0.387290	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399574	89399574	+	RNA	DEL	G	G	-			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:89399574delG	ENST00000479981.1	-	0	155																											CCCGACAAGTGATGGTGACTC	0.483													15	245	---	---	---	---					
IGKV1D-17	28900	broad.mit.edu	37	2	90121911	90121911	+	RNA	DEL	C	C	-			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:90121911delC	ENST00000483379.1	+	0	310																											GAGTCACCATCACTTGTCGGG	0.478													43	348	---	---	---	---					
PLCL1	5334	broad.mit.edu	37	2	198953700	198953701	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr2:198953700_198953701delTT	ENST00000428675.1	+	3	3232_3233	c.2834_2835delTT	c.(2833-2835)cfs	p.L945fs	PLCL1_ENST00000437704.2_Frame_Shift_Del_p.L847fs	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	945					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCAGTCTCACTTGTGATGAAAG	0.470													42	261	---	---	---	---					
PRKCD	5580	broad.mit.edu	37	3	53222779	53222780	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:53222779_53222780insT	ENST00000394729.2	+	15	1787_1788	c.1459_1460insT	c.(1459-1461)caafs	p.Q487fs	PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.Q487fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	487	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGATGGCCACATCAAGATTGCC	0.564													25	97	---	---	---	---					
ALG1L2	644974	broad.mit.edu	37	3	129814807	129814807	+	RNA	DEL	G	G	-	rs71158106		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr3:129814807delG	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CACTCCCCTCGGGGGGTGTTG	0.607													3	3	---	---	---	---					
CCER1	196477	broad.mit.edu	37	12	91347586	91347587	+	In_Frame_Ins	INS	-	-	TTG	rs150154824		TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr12:91347586_91347587insTTG	ENST00000358859.2	-	1	1366_1367	c.933_934insCAA	c.(931-936)gaaaga>gaCAAaaga	p.311_311E>DK	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		tcgacctcttcctcctcatctt	0.525													10	67	---	---	---	---					
MYOM1	8736	broad.mit.edu	37	18	3086058	3086059	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6474-01A-11D-1870-08	TCGA-CR-6474-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4369e1-cf03-4a40-9a66-fc67bfb946b3	11f422c3-46e6-47c6-9f85-5708ec25b154	g.chr18:3086058_3086059insT	ENST00000400569.3	-	30	4561_4562	c.4228_4229insA	c.(4228-4230)atgfs	p.M1410fs	MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.M1314fs|MYOM1_ENST00000356443.4_Frame_Shift_Ins_p.M1410fs			P52179	MYOM1_HUMAN	myomesin 1	1410	Ig-like C2-type 4.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAGGGTACATATACCATCCTTA	0.366													13	86	---	---	---	---