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
WDR5	11091	broad.mit.edu	37	9	137007123	137007123	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:137007123C>G	ENST00000358625.3	+	5	488	c.317C>G	c.(316-318)tCa>tGa	p.S106*	WDR5_ENST00000425041.1_Nonsense_Mutation_p.S106*	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	106					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GTTTCTGCCTCAGATGACAAA	0.522000													13	85					0	0	0.219247	0	0
NLRP10	338322	broad.mit.edu	37	11	7981956	7981956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:7981956G>T	ENST00000328600.2	-	2	1364	c.1203C>A	c.(1201-1203)tgC>tgA	p.C401*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	401	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGCTCGGAGCAGCCCCCAT	0.542000													3	33					1.23904e-05	1.45557e-05	0.184627	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642658	1642658	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:1642658C>A	ENST00000399682.1	-	1	710	c.666G>T	c.(664-666)gtG>gtT	p.V222V		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	282	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACTGGCAGCACACAGGGACAC	0.562000													10	165					3.07112e-06	3.6897e-06	0.080935	1	0
METTL12	751071	broad.mit.edu	37	11	62434478	62434478	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:62434478C>T	ENST00000532971.1	+	3	935	c.678C>T	c.(676-678)ttC>ttT	p.F226F	C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000354588.3_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	226						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TAGGCCCGTTCAGGGGCATCA	0.517000													7	118					0	0	0.069234	0	0
GPR20	2843	broad.mit.edu	37	8	142367939	142367939	+	Missense_Mutation	SNP	C	C	T	rs141575090		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:142367939C>T	ENST00000377741.3	-	2	175	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	29						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACCTCCAGCCCGCTGGCATTG	0.687000													3	35					0	0	0.150653	0	0
USP43	124739	broad.mit.edu	37	17	9613293	9613293	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:9613293G>A	ENST00000570827.2	+	13	2173	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N	USP43_ENST00000570475.1_Missense_Mutation_p.D673N|USP43_ENST00000285199.6_Missense_Mutation_p.D678N			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	678					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAACTCTCTGGATGGCCAGTG	0.507000													11	42					0	0	0.105934	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906356	13906356	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:13906356G>T	ENST00000279593.3	-	3	1114	c.905C>A	c.(904-906)aCt>aAt	p.T302N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	302					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T302I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAAGCAGCAGTGGTGATTAT	0.507000													26	88					1.13719e-10	1.57129e-10	0.134883	1	0
LRP2	4036	broad.mit.edu	37	2	170177299	170177299	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:170177299C>T	ENST00000263816.3	-	2	460	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	LRP2_ENST00000443831.1_Missense_Mutation_p.E59K	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	59	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCCAATTTCATCCGCGTCA	0.493000													5	132					0	0	0.217242	0	0
DPH2	1802	broad.mit.edu	37	1	44437102	44437102	+	Silent	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:44437102A>G	ENST00000255108.3	+	4	700	c.528A>G	c.(526-528)ctA>ctG	p.L176L	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Silent_p.L41L|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	176					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGGACCTGCTAGTCTCCAGCC	0.617000													25	72					0	0	0.125774	0	0
SRRT	51593	broad.mit.edu	37	7	100479722	100479722	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:100479722G>A	ENST00000388793.4	+	5	667	c.447G>A	c.(445-447)atG>atA	p.M149I	SRRT_ENST00000432932.1_Missense_Mutation_p.M149I|SRRT_ENST00000347433.4_Missense_Mutation_p.M149I|SRRT_ENST00000457580.2_Missense_Mutation_p.M149I	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	149					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGCCCGTGATGAAGACCTTCA	0.592000													12	118					0	0	0.119110	0	0
CSMD3	114788	broad.mit.edu	37	8	113323207	113323207	+	Splice_Site	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:113323207C>G	ENST00000297405.5	-	50	8129	c.7885_splice	c.e50+1	p.A2629_splice	CSMD3_ENST00000352409.3_Splice_Site_p.A2559_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2589_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A2525_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2629	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATACTTCACCTTGACAGGCA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	66					0	0	0.150653	0	0
RNF20	56254	broad.mit.edu	37	9	104316344	104316344	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:104316344A>T	ENST00000389120.3	+	14	2066	c.1976A>T	c.(1975-1977)gAc>gTc	p.D659V		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	659					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAACAGAGAGACAAAGTTCAG	0.458000													5	68					0	0	0.184627	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583752	145583752	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:145583752G>A	ENST00000532887.1	+	3	1183	c.600G>A	c.(598-600)ctG>ctA	p.L200L	SLC52A2_ENST00000530047.1_Silent_p.L200L|SLC52A2_ENST00000329994.2_Silent_p.L200L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Silent_p.L200L|SLC52A2_ENST00000402965.1_Silent_p.L200L|SLC52A2_ENST00000540505.1_Silent_p.L112L			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	200						integral to plasma membrane	receptor activity|riboflavin transporter activity										TCTGGGCACTGACTGCCCTTC	0.652000													11	102					0	0	0.105934	0	0
HCLS1	3059	broad.mit.edu	37	3	121353122	121353122	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:121353122G>T	ENST00000314583.3	-	10	926	c.835C>A	c.(835-837)Cca>Aca	p.P279T	HCLS1_ENST00000428394.2_Missense_Mutation_p.P242T|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	279					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ACTGGCTGTGGAGCCTCAGGG	0.597000													14	75					1.52009e-12	2.17119e-12	0.132662	1	0
GCN1L1	10985	broad.mit.edu	37	12	120611477	120611477	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:120611477C>G	ENST00000300648.6	-	14	1358	c.1346G>C	c.(1345-1347)tGc>tCc	p.C449S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	449					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCAACATGCACTGCAGGTA	0.502000													36	77					0	0	0.268233	0	0
ZNF407	55628	broad.mit.edu	37	18	72346696	72346696	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:72346696G>T	ENST00000299687.5	+	1	3721	c.3721G>T	c.(3721-3723)Gga>Tga	p.G1241*	ZNF407_ENST00000577538.1_Nonsense_Mutation_p.G1241*|ZNF407_ENST00000309902.6_Nonsense_Mutation_p.G1241*|ZNF407_ENST00000582337.1_Nonsense_Mutation_p.G1241*	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGAGACGGTGGAGGTGTTGT	0.527000													5	63					8.12818e-05	9.26591e-05	0.248553	1	0
WNT16	51384	broad.mit.edu	37	7	120979187	120979187	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:120979187G>C	ENST00000222462.2	+	4	1176	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	WNT16_ENST00000361301.2_Missense_Mutation_p.E286Q	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	296					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTACTGTGTAGAAGATAAGAA	0.458000													8	65					0	0	0.058154	0	0
ZNF567	163081	broad.mit.edu	37	19	37210563	37210563	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:37210563G>A	ENST00000585696.1	+	3	2074	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ZNF567_ENST00000360729.4_Missense_Mutation_p.E282K|ZNF567_ENST00000536254.2_Missense_Mutation_p.E313K|ZNF567_ENST00000588311.1_Missense_Mutation_p.E282K|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.E282K			Q8N184	ZN567_HUMAN	zinc finger protein 567	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGTTTGCAATGAATGTGGTAA	0.423000													7	79					0	0	0.278610	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095647	103095647	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:103095647G>C	ENST00000295269.4	+	2	1063	c.606G>C	c.(604-606)ctG>ctC	p.L202L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	202					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCGGCAGCCTGATCTCCGCCG	0.612000													5	32					0	0	0.217242	0	0
CCDC172	374355	broad.mit.edu	37	10	118101649	118101649	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:118101649G>T	ENST00000333254.3	+	5	635	c.384G>T	c.(382-384)ttG>ttT	p.L128F	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		GAGAGCTTTTGATGAAAGAAA	0.279000													11	49					0.000978159	0.00108018	0.080935	1	0
TASP1	55617	broad.mit.edu	37	20	13463881	13463881	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:13463881C>A	ENST00000337743.4	-	11	1098	c.978G>T	c.(976-978)aaG>aaT	p.K326N	TASP1_ENST00000539805.1_Missense_Mutation_p.S129I|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	326					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TACTGATAAACTTGTTTTGCA	0.383000													40	144					2.24893e-16	3.36545e-16	0.279185	1	0
ZNF702P	79986	broad.mit.edu	37	19	53472914	53472914	+	RNA	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:53472914A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TTTGATTTTCAATTAAAAACC	0.338000													3	24					0	0	0.115264	0	0
IGKV1-12	28940	broad.mit.edu	37	2	89339949	89339949	+	RNA	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:89339949G>T	ENST00000480492.1	-	0	169																											AAGTGATGGTGACTCTGTCTC	0.498000													28	139					2.54651e-27	4.00909e-27	0.246493	1	0
ZBP1	81030	broad.mit.edu	37	20	56186835	56186835	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:56186835G>T	ENST00000340462.4	-	5	1033	c.753C>A	c.(751-753)ctC>ctA	p.L251L	ZBP1_ENST00000343535.4_Silent_p.L274L|ZBP1_ENST00000395822.3_Silent_p.L199L|ZBP1_ENST00000371173.3_Silent_p.L274L			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	274						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGACGCCGTGGAGCCTCATCT	0.657000													3	31					0.014758	0.015528	0.184627	1	0
SGIP1	84251	broad.mit.edu	37	1	67155931	67155931	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:67155931C>G	ENST00000371037.4	+	17	1579	c.1502C>G	c.(1501-1503)gCg>gGg	p.A501G	SGIP1_ENST00000371035.3_Missense_Mutation_p.A291G|SGIP1_ENST00000371036.3_Missense_Mutation_p.A301G|SGIP1_ENST00000371039.1_Missense_Mutation_p.A302G|SGIP1_ENST00000237247.6_Missense_Mutation_p.A532G	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	501					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCACCCTTAGCGCGGGCTGAA	0.458000													20	234					0	0	0.234183	0	0
BAI2	576	broad.mit.edu	37	1	32201227	32201227	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:32201227T>C	ENST00000373658.3	-	24	3648	c.3307A>G	c.(3307-3309)Atg>Gtg	p.M1103V	BAI2_ENST00000398538.1_Missense_Mutation_p.M1091V|BAI2_ENST00000398556.3_Missense_Mutation_p.M1051V|BAI2_ENST00000440175.2_Missense_Mutation_p.M745V|BAI2_ENST00000373655.2_Missense_Mutation_p.M1103V|BAI2_ENST00000398542.1_Missense_Mutation_p.M1036V|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.M1036V|BAI2_ENST00000527361.1_Missense_Mutation_p.M1103V|BAI2_ENST00000257070.4_Missense_Mutation_p.M1103V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1103					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCACGTGCCATGAGCTTGTTG	0.592000													13	70					0	0	0.175082	0	0
OR2D2	120776	broad.mit.edu	37	11	6913541	6913541	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:6913541C>G	ENST00000299459.2	-	1	289	c.191G>C	c.(190-192)tGc>tCc	p.C64S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGACAAGTTGCAGAGAAAAAA	0.448000													6	24					0	0	0.248553	0	0
ZNF264	9422	broad.mit.edu	37	19	57716795	57716795	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:57716795G>A	ENST00000263095.6	+	3	605	c.191G>A	c.(190-192)tGc>tAc	p.C64Y	ZNF264_ENST00000536056.1_Missense_Mutation_p.C64Y	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGCTGATCTGCCACCTAGAG	0.512000													3	19					0	0	0.150653	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604463	160604463	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:160604463G>C	ENST00000302035.6	-	3	989	c.640C>G	c.(640-642)Cct>Gct	p.P214A	SLAMF1_ENST00000355199.3_Missense_Mutation_p.P214A|SLAMF1_ENST00000538290.1_Missense_Mutation_p.P214A|SLAMF1_ENST00000235739.5_Missense_Mutation_p.P214A	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	214	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTGCTGATAGGGTTGCTCACG	0.602000													6	132					0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179418066	179418066	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:179418066C>A	ENST00000589042.1	-	335	89785	c.89561G>T	c.(89560-89562)gGt>gTt	p.G29854V	TTN_ENST00000460472.2_Missense_Mutation_p.G20789V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27286V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20981V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28213V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20914V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28213	Fibronectin type-III 117.						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)			TACATCTTCACCAGCTTTGGC	0.423000													30	231					1.59361e-14	2.31922e-14	0.246493	1	0
BEND2	139105	broad.mit.edu	37	X	18194206	18194206	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:18194206C>A	ENST00000380033.4	-	11	1770	c.1638G>T	c.(1636-1638)ctG>ctT	p.L546L	BEND2_ENST00000380030.3_Silent_p.L455L	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	546	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAGTTGTTGCCAGATATTCTG	0.318000													5	28					0.248553	0.251222	0.248553	1	0
DZIP3	9666	broad.mit.edu	37	3	108380804	108380804	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:108380804G>C	ENST00000361582.3	+	20	2510	c.2280G>C	c.(2278-2280)ttG>ttC	p.L760F	DZIP3_ENST00000463306.1_Missense_Mutation_p.L760F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	760					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTATAAATTGCACTATCAGT	0.368000													6	54					0	0	0.278610	0	0
OR5T3	390154	broad.mit.edu	37	11	56020308	56020308	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:56020308G>T	ENST00000303059.3	+	1	633	c.633G>T	c.(631-633)atG>atT	p.M211I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTTGTGATATGCCTCCTCTCC	0.413000													35	220					1.23713e-20	1.91213e-20	0.139131	1	0
NTNG1	22854	broad.mit.edu	37	1	107867258	107867258	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:107867258G>T	ENST00000370067.1	+	3	1228	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	NTNG1_ENST00000370070.2_Missense_Mutation_p.V201F|NTNG1_ENST00000370072.3_Missense_Mutation_p.V201F|NTNG1_ENST00000370074.4_Missense_Mutation_p.V201F|NTNG1_ENST00000542803.1_Missense_Mutation_p.V201F|NTNG1_ENST00000370061.3_Missense_Mutation_p.V201F|NTNG1_ENST00000370065.1_Missense_Mutation_p.V201F|NTNG1_ENST00000370073.2_Missense_Mutation_p.V201F|NTNG1_ENST00000370066.1_Missense_Mutation_p.V201F|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370068.1_Missense_Mutation_p.V201F|NTNG1_ENST00000370071.2_Missense_Mutation_p.V201F			Q9Y2I2	NTNG1_HUMAN	netrin G1	201	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ACAGCATACGGTCTTAGAAAT	0.398000													5	50					0.0293803	0.0303848	0.248553	1	0
SLC22A12	116085	broad.mit.edu	37	11	64367244	64367244	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:64367244C>T	ENST00000377574.1	+	7	1914	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	SLC22A12_ENST00000336464.7_Silent_p.D355D|SLC22A12_ENST00000377572.1_Silent_p.D281D|SLC22A12_ENST00000377567.2_Silent_p.D281D|SLC22A12_ENST00000473690.1_Silent_p.D168D	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	389					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GTGTCGTGGACATCCCAGCCA	0.647000													18	102					0	0	0.234183	0	0
LOC148709	148709	broad.mit.edu	37	1	202843150	202843150	+	RNA	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:202843150G>T	ENST00000456105.2	+	0	1102					NR_002929.2																						CTCCTTCCTGGGTATGGAATC	0.557000													4	8					0.000602214	0.00067027	0.184627	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140812413	140812413	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140812413C>T	ENST00000252085.3	+	1	2229	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTAGCGGTGGCCGCG	0.647000													14	169					0	0	0.175082	0	0
ZG16B	124220	broad.mit.edu	37	16	2880469	2880469	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:2880469C>T	ENST00000382280.3	+	2	214	c.135C>T	c.(133-135)ctC>ctT	p.L45L	ZG16B_ENST00000572863.1_Silent_p.L15L	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	45	Poly-Leu.					extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CGCTTGCCCTCCTGGGGGGCC	0.662000													3	9					0	0	0.184627	0	0
PUM1	9698	broad.mit.edu	37	1	31501678	31501678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:31501678G>A	ENST00000373747.3	-	3	496	c.397C>T	c.(397-399)Caa>Taa	p.Q133*	PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q133*|PUM1_ENST00000424085.2_Nonsense_Mutation_p.Q133*|PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q133*|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q169*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q169*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q133*|PUM1_ENST00000257075.5_Nonsense_Mutation_p.Q133*	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	133					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GCAAGTGCTTGAAAATCATGA	0.403000													16	137					0	0	0.234183	0	0
NPR2	4882	broad.mit.edu	37	9	35794019	35794019	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:35794019A>T	ENST00000342694.2	+	2	1047	c.792A>T	c.(790-792)gcA>gcT	p.A264A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	264					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GTCTCCGTGCAGGCCCCACAC	0.567000													11	81					0	0	0.105934	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765631	77765631	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:77765631G>T	ENST00000521891.2	+	10	6922	c.6474G>T	c.(6472-6474)caG>caT	p.Q2158H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2113H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2132H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2113H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2113						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGAAGAACAGATCCAGGAAA	0.383000										HNSCC(33;0.089)			9	44					2.17888e-05	2.53504e-05	0.058154	1	0
DYNC1I2	1781	broad.mit.edu	37	2	172563771	172563771	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:172563771G>A	ENST00000358002.6	+	4	346	c.255G>A	c.(253-255)gcG>gcA	p.A85A	DYNC1I2_ENST00000409773.1_Intron|AC068039.1_ENST00000598148.1_Intron|DYNC1I2_ENST00000534253.2_Intron|DYNC1I2_ENST00000508530.1_Intron|DYNC1I2_ENST00000263811.4_Intron|DYNC1I2_ENST00000409317.1_Intron|DYNC1I2_ENST00000410079.3_Silent_p.A85A|DYNC1I2_ENST00000409453.1_Intron|DYNC1I2_ENST00000409197.1_Intron|DYNC1I2_ENST00000340296.4_Intron|DYNC1I2_ENST00000397119.3_Intron	NM_001271787.1	NP_001258716.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	76					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TAGTAACAGCGGATACCTGTC	0.393000													4	50					0	0	0.150653	0	0
SLC17A2	10246	broad.mit.edu	37	6	25913580	25913580	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:25913580C>A	ENST00000377850.3	-	12	1926	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000360488.3_Missense_Mutation_p.K418N			O00624	NPT3_HUMAN	solute carrier family 17, member 2	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TTGGCCCAGTCTTGAAGTTCT	0.428000													12	113					6.81908e-15	9.9754e-15	0.119110	1	0
EPB41L4B	54566	broad.mit.edu	37	9	111962562	111962562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:111962562C>A	ENST00000374566.3	-	20	2516	c.1999G>T	c.(1999-2001)Gaa>Taa	p.E667*		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	667						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTTGATTTCCGGCTTTTCC	0.398000													12	91					1.05317e-09	1.407e-09	0.119110	1	0
SUGP2	10147	broad.mit.edu	37	19	19136773	19136773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:19136773C>T	ENST00000456085.2	-	2	342	c.89G>A	c.(88-90)tGg>tAg	p.W30*	SUGP2_ENST00000601879.1_Silent_p.L128L|SUGP2_ENST00000600377.1_Silent_p.L142L|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Silent_p.L128L|SUGP2_ENST00000337018.6_Silent_p.L128L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	0					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGAAATGCCCCAATTTCCGGT	0.502000													9	128					0	0	0.069234	0	0
NKX3-2	579	broad.mit.edu	37	4	13543758	13543758	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:13543758G>T	ENST00000382438.5	-	2	1496	c.861C>A	c.(859-861)cgC>cgA	p.R287R		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	287					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTGGTCGTCGCGCACCAGCA	0.647000													5	19					0.00116845	0.00128196	0.217242	1	0
TRIM36	55521	broad.mit.edu	37	5	114469845	114469845	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:114469845C>A	ENST00000513154.1	-	8	1537		c.e8-1		TRIM36_ENST00000282369.3_Splice_Site|TRIM36_ENST00000514154.1_Splice_Site			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36							acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ACGTCTATGCCTGAAAGAATT	0.313000													4	23					0.0293803	0.0303848	0.248553	1	0
SCG2	7857	broad.mit.edu	37	2	224462839	224462839	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:224462839G>T	ENST00000305409.2	-	2	1394	c.1162C>A	c.(1162-1164)Cct>Act	p.P388T		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	388					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGGTCAACAGGAAGGTCAAGC	0.493000													13	61					9.31168e-06	1.10617e-05	0.105934	1	0
PRKD1	5587	broad.mit.edu	37	14	30103642	30103642	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:30103642G>A	ENST00000331968.5	-	8	1525	c.1296C>T	c.(1294-1296)taC>taT	p.Y432Y	PRKD1_ENST00000415220.2_Silent_p.Y440Y	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	432	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTGCTGGTGTAGTGGACCA	0.473000													24	229					0	0	0.116897	0	0
OGG1	4968	broad.mit.edu	37	3	9807614	9807614	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:9807614C>G	ENST00000302036.7	+	7	1413	c.1070C>G	c.(1069-1071)cCc>cGc	p.P357R	OGG1_ENST00000383826.5_3'UTR|OGG1_ENST00000302008.8_3'UTR|CAMK1_ENST00000256460.3_Intron|OGG1_ENST00000349503.5_Missense_Mutation_p.P290R|OGG1_ENST00000449570.2_3'UTR	NM_016821.2	NP_058214.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GAACTGGAACCCCAGCTTCCC	0.582000								Base excision repair (BER), DNA glycosylases					15	61					0	0	0.204396	0	0
FCHO2	115548	broad.mit.edu	37	5	72302361	72302361	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:72302361G>A	ENST00000430046.2	+	6	701	c.585G>A	c.(583-585)atG>atA	p.M195I	FCHO2_ENST00000512348.1_Missense_Mutation_p.M195I|FCHO2_ENST00000287761.6_Missense_Mutation_p.M195I|FCHO2_ENST00000341845.6_Missense_Mutation_p.M195I	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	195										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AACAGAAAATGACAGAAACAG	0.299000													4	12					0	0	0.217242	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918311	97918311	+	RNA	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:97918311G>C	ENST00000534948.1	+	0	3089							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TAGAGTGTGCGACTGAAAAAT	0.348000													3	17					0	0	0.115264	0	0
MTERFD1	51001	broad.mit.edu	37	8	97263177	97263177	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:97263177T>G	ENST00000523821.1	-	4	753	c.634A>C	c.(634-636)Aat>Cat	p.N212H	MTERFD1_ENST00000522822.1_Missense_Mutation_p.N91H|MTERFD1_ENST00000524341.1_Missense_Mutation_p.N22H|MTERFD1_ENST00000287025.3_Missense_Mutation_p.N212H			Q96E29	MTER1_HUMAN	MTERF domain containing 1	212					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATTGCATGATTTTTTGTCAGG	0.353000													4	124					0	0	0.217242	0	0
IGSF1	3547	broad.mit.edu	37	X	130408705	130408705	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:130408705C>T	ENST00000370904.1	-	24	4502	c.3592G>A	c.(3592-3594)Gag>Aag	p.E1198K	IGSF1_ENST00000361420.3_Missense_Mutation_p.E1207K|IGSF1_ENST00000370903.3_Missense_Mutation_p.E1212K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E1198K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1207	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTCCATCCTCTGAAAACTGC	0.507000													25	191					0	0	0.144211	0	0
CTDSP1	58190	broad.mit.edu	37	2	219267764	219267764	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:219267764G>T	ENST00000273062.2	+	5	721	c.385G>T	c.(385-387)Gtg>Ttg	p.V129L	CTDSP1_ENST00000443891.1_Missense_Mutation_p.V128L|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	129	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGGTCTACGTGTTGAAGCG	0.672000													13	36					6.72482e-11	9.35292e-11	0.132662	1	0
ZC3H12A	80149	broad.mit.edu	37	1	37948855	37948855	+	Silent	SNP	C	C	T	rs151076639		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:37948855C>T	ENST00000373087.6	+	6	1559	c.1443C>T	c.(1441-1443)acC>acT	p.T481T		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	481	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCAGCCACCGCAGCCTTCT	0.667000													10	110					0	0	0.080935	0	0
TBX2	6909	broad.mit.edu	37	17	59482039	59482039	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:59482039A>T	ENST00000240328.3	+	5	1241	c.960A>T	c.(958-960)tcA>tcT	p.S320S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	320					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GCGCGGAGTCAGACGCCTCGT	0.706000													3	7					0	0	0.115264	0	0
CPN1	1369	broad.mit.edu	37	10	101816844	101816844	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:101816844T>A	ENST00000370418.3	-	6	1188	c.937A>T	c.(937-939)Aag>Tag	p.K313*		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	313	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GGGGGAAACTTGTCGCAACTC	0.468000													68	250					0	0	0.139131	0	0
IL1A	3552	broad.mit.edu	37	2	113532745	113532745	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:113532745G>T	ENST00000263339.3	-	7	870	c.715C>A	c.(715-717)Cat>Aat	p.H239N		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	239					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						AAGTTTGGATGGGCAACTGAT	0.488000													12	112					6.31663e-08	8.08185e-08	0.132662	1	0
EHHADH	1962	broad.mit.edu	37	3	184910874	184910874	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:184910874G>C	ENST00000231887.3	-	7	1387	c.1312C>G	c.(1312-1314)Cat>Gat	p.H438D	EHHADH_ENST00000456310.1_Missense_Mutation_p.H342D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	438	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TTCATGACATGAGCTGGCGAA	0.418000													9	72					0	0	0.058154	0	0
UCKL1	54963	broad.mit.edu	37	20	62577908	62577908	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:62577908C>G	ENST00000369908.5	-	2	456	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	UCKL1_ENST00000354216.6_Missense_Mutation_p.E68Q|UCKL1_ENST00000358711.3_Missense_Mutation_p.E68Q|UCKL1_ENST00000369892.3_Missense_Mutation_p.E68Q	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	68					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGGGAGGCTCTGACTTGCAC	0.642000													5	68					0	0	0.248553	0	0
DDX54	79039	broad.mit.edu	37	12	113612955	113612955	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:113612955C>G	ENST00000314045.7	-	8	787	c.760G>C	c.(760-762)Gaa>Caa	p.E254Q	DDX54_ENST00000306014.5_Missense_Mutation_p.E254Q	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	254	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAACCCATTTCAAAAAGCCTG	0.622000											OREG0022139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	88					0	0	0.080935	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091739	143091739	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:143091739G>A	ENST00000367603.2	-	5	4879	c.4137C>T	c.(4135-4137)gtC>gtT	p.V1379V	HIVEP2_ENST00000367604.1_Silent_p.V1379V|HIVEP2_ENST00000012134.2_Silent_p.V1379V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGCGTTGGTGACCAGTGTCC	0.498000													5	53					0	0	0.184627	0	0
MYH1	4619	broad.mit.edu	37	17	10408377	10408377	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:10408377G>T	ENST00000226207.5	-	22	2535	c.2441C>A	c.(2440-2442)tCc>tAc	p.S814Y	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	814	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGAAGATGGACTCTCTGTC	0.383000													7	31					5.68852e-11	7.93769e-11	0.047766	1	0
SEC23B	10483	broad.mit.edu	37	20	18508255	18508255	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:18508255G>T	ENST00000336714.3	+	9	1541	c.1109_splice	c.e9+1	p.G370_splice	SEC23B_ENST00000377475.3_Splice_Site_p.G370_splice|SEC23B_ENST00000262544.2_Splice_Site_p.G370_splice|SEC23B_ENST00000377465.1_Splice_Site_p.G370_splice	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	370					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AATCTTACTGGGTATGTTGAC	0.423000													43	221					4.10826e-27	6.45584e-27	0.139131	1	0
HTT	3064	broad.mit.edu	37	4	3237075	3237075	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:3237075G>C	ENST00000355072.5	+	62	8666	c.8521G>C	c.(8521-8523)Gag>Cag	p.E2841Q	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2841					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTACCTCATTGAGAACTATCC	0.552000													9	85					0	0	0.093190	0	0
ZNF425	155054	broad.mit.edu	37	7	148802173	148802173	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:148802173G>A	ENST00000378061.2	-	4	922	c.790C>T	c.(790-792)Cat>Tat	p.H264Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	264					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACAACCTGATGAGTGACGAGG	0.597000													16	72					0	0	0.189662	0	0
FLG2	388698	broad.mit.edu	37	1	152329649	152329649	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:152329649T>A	ENST00000388718.5	-	3	685	c.613A>T	c.(613-615)Aga>Tga	p.R205*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	205	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTCTTTCTCTCAGTTCTACA	0.468000													41	235					0	0	0.290176	0	0
FRMD8	83786	broad.mit.edu	37	11	65167216	65167216	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:65167216C>T	ENST00000317568.5	+	8	976	c.813C>T	c.(811-813)ttC>ttT	p.F271F	FRMD8_ENST00000355991.5_Silent_p.F215F|FRMD8_ENST00000416776.2_Silent_p.F237F	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	271	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						GGTGTGCCTTCTTCCACGGTG	0.632000													7	59					0	0	0.047766	0	0
SSFA2	6744	broad.mit.edu	37	2	182780278	182780278	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:182780278G>T	ENST00000431877.2	+	11	2090	c.1911G>T	c.(1909-1911)ctG>ctT	p.L637L	SSFA2_ENST00000320370.7_Silent_p.L637L|SSFA2_ENST00000428267.2_Silent_p.L484L|SSFA2_ENST00000409136.1_Silent_p.L146L|SSFA2_ENST00000409001.1_Silent_p.L637L	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	637						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGAGCTACTGAGGGAAGCAA	0.408000													15	112					5.35267e-07	6.6089e-07	0.189662	1	0
CPVL	54504	broad.mit.edu	37	7	29160638	29160638	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:29160638G>A	ENST00000409850.1	-	6	686	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000396276.3_Silent_p.L14L|CPVL_ENST00000265394.5_Silent_p.L14L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	14					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GGCATCAACAGGACCAGCGAA	0.468000													7	58					0	0	0.248553	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168549	50168549	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:50168549C>A	ENST00000284509.6	-	25	3094	c.2953G>T	c.(2953-2955)Ggg>Tgg	p.G985W	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G985W	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	985					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATATGTTGCCCATCTTCTCCA	0.463000													12	56					0.000308642	0.000345793	0.132662	1	0
TXNDC16	57544	broad.mit.edu	37	14	52906028	52906028	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:52906028C>T	ENST00000281741.4	-	20	2459	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L	TXNDC16_ENST00000554399.1_5'UTR	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	696					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CACCTGAATGCAGATTCACCA	0.423000													12	46					0	0	0.093190	0	0
C11orf87	399947	broad.mit.edu	37	11	109294458	109294458	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:109294458G>A	ENST00000327419.6	+	2	502	c.99G>A	c.(97-99)acG>acA	p.T33T	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	33						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCGGCAACACGGGTGCCCGCG	0.672000													6	19					0	0	0.047766	0	0
TRAFD1	10906	broad.mit.edu	37	12	112578652	112578652	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:112578652C>T	ENST00000257604.5	+	5	884	c.267C>T	c.(265-267)gtC>gtT	p.V89V	TRAFD1_ENST00000412615.2_Silent_p.V89V	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	89					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGCTTGCTGTCTGCCAGCACT	0.458000													7	102					0	0	0.069234	0	0
SYCP1	6847	broad.mit.edu	37	1	115489940	115489940	+	Splice_Site	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:115489940A>T	ENST00000369522.3	+	27	2561	c.2322_splice	c.e27+1	p.K774_splice	SYCP1_ENST00000369518.1_Splice_Site_p.K774_splice	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	774					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		AGAGAAGAGAAGGTAGGTTTT	0.279000													14	59					0	0	0.189662	0	0
CYP2A7	1549	broad.mit.edu	37	19	41384685	41384685	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:41384685A>G	ENST00000301146.4	-	5	1352	c.811T>C	c.(811-813)Ttt>Ctt	p.F271L	CYP2A7_ENST00000291764.3_Missense_Mutation_p.F220L|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	271						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGGATGAGAAAGGAGTCGATG	0.582000													9	110					0	0	0.080935	0	0
NUP214	8021	broad.mit.edu	37	9	134098172	134098172	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:134098172T>C	ENST00000359428.5	+	32	5901	c.5757T>C	c.(5755-5757)tcT>tcC	p.S1919S	NUP214_ENST00000411637.2_Silent_p.S1909S|NUP214_ENST00000451030.1_Silent_p.S1920S|NUP214_ENST00000483497.2_Silent_p.S745S			P35658	NU214_HUMAN	nucleoporin 214kDa	1919	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAGATACCTCTAACCTATTTG	0.483000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								42	154					0	0	0.139131	0	0
TMTC3	160418	broad.mit.edu	37	12	88542218	88542218	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:88542218G>T	ENST00000266712.6	+	2	346	c.126G>T	c.(124-126)ttG>ttT	p.L42F		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	42						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ACAAAGACTTGCATCCATCTA	0.358000													21	44					8.10497e-08	1.03387e-07	0.219247	1	0
TNC	3371	broad.mit.edu	37	9	117798425	117798425	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:117798425C>G	ENST00000350763.4	-	21	6019	c.5608G>C	c.(5608-5610)Gag>Cag	p.E1870Q	TNC_ENST00000345230.3_Missense_Mutation_p.E1233Q|TNC_ENST00000346706.3_Missense_Mutation_p.E1324Q|TNC_ENST00000535648.1_Missense_Mutation_p.E1415Q|TNC_ENST00000341037.4_Missense_Mutation_p.E1688Q|TNC_ENST00000340094.3_Missense_Mutation_p.E1506Q|TNC_ENST00000542877.1_Missense_Mutation_p.E1507Q|TNC_ENST00000537320.1_Missense_Mutation_p.E1233Q|TNC_ENST00000423613.2_Missense_Mutation_p.E1597Q	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1870	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGCCCTTTCTCTGCAAAGATT	0.537000													8	90					0	0	0.047766	0	0
MEFV	4210	broad.mit.edu	37	16	3304252	3304252	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:3304252G>T	ENST00000219596.1	-	2	855	c.816C>A	c.(814-816)gaC>gaA	p.D272E	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	272					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTGTTGCCGAGTCCAGATTCG	0.557000													17	185					2.54575e-18	3.89215e-18	0.219247	1	0
PKD1L1	168507	broad.mit.edu	37	7	47944035	47944035	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:47944035C>A	ENST00000289672.2	-	12	1921	c.1871G>T	c.(1870-1872)tGg>tTg	p.W624L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	624	PKD 2.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCCAAAGTCCCACAGGTAGGC	0.587000													11	48					1.61879e-10	2.22223e-10	0.093190	1	0
CSMD3	114788	broad.mit.edu	37	8	113256649	113256649	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:113256649C>A	ENST00000297405.5	-	65	10620	c.10376G>T	c.(10375-10377)tGg>tTg	p.W3459L	CSMD3_ENST00000352409.3_Missense_Mutation_p.W3389L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W3419L|CSMD3_ENST00000455883.2_Missense_Mutation_p.W3290L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3459	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTTCCAGTCCAGGTGTTATC	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	87					0.00198382	0.00216254	0.248553	1	0
AREL1	9870	broad.mit.edu	37	14	75136414	75136414	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:75136414T>C	ENST00000356357.4	-	15	2367	c.1852A>G	c.(1852-1854)Atg>Gtg	p.M618V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		ATCTCACTCATGTCATTGTTG	0.388000													15	92					0	0	0.146539	0	0
C12orf68	387856	broad.mit.edu	37	12	48578124	48578124	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:48578124G>T	ENST00000316554.3	+	1	759	c.219G>T	c.(217-219)caG>caT	p.Q73H		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	73						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CGCACATCCAGGTGCTCTCGG	0.652000													6	34					0.0293803	0.0303848	0.248553	1	0
SHANK1	50944	broad.mit.edu	37	19	51217128	51217128	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:51217128A>G	ENST00000293441.1	-	5	737	c.719T>C	c.(718-720)aTt>aCt	p.I240T	SHANK1_ENST00000359082.3_Missense_Mutation_p.I240T|SHANK1_ENST00000391814.1_Missense_Mutation_p.I240T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	240					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCGGAAGTCAATGTGGGCCCC	0.662000													15	70					0	0	0.189662	0	0
MOS	4342	broad.mit.edu	37	8	57025989	57025989	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:57025989C>A	ENST00000311923.1	-	1	552	c.553G>T	c.(553-555)Gtt>Ttt	p.V185F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	185	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CCGTTCACAACATCTAGTGAG	0.552000													7	57					2.0095e-06	2.43497e-06	0.248553	1	0
ZNF148	7707	broad.mit.edu	37	3	124951377	124951377	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:124951377C>A	ENST00000360647.4	-	9	2678	c.2193G>T	c.(2191-2193)caG>caT	p.Q731H	ZNF148_ENST00000485866.1_Missense_Mutation_p.Q731H|ZNF148_ENST00000484491.1_Missense_Mutation_p.Q731H|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q731H|ZNF148_ENST00000544464.1_Missense_Mutation_p.Q68H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Missense_Mutation_p.Q81H|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	731					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CACGGAAGGGCTGTTCAAAGG	0.512000													11	107					2.27111e-07	2.83721e-07	0.093190	1	0
ASPG	374569	broad.mit.edu	37	14	104552164	104552164	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:104552164C>A	ENST00000551177.1	+	1	149	c.57C>A	c.(55-57)acC>acA	p.T19T	ASPG_ENST00000546892.2_Silent_p.T19T|ASPG_ENST00000455920.2_Silent_p.T19T	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	19					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCGGCGGCACCATTGGCATGC	0.751000													7	47					3.86212e-05	4.43856e-05	0.069234	1	0
COL6A6	131873	broad.mit.edu	37	3	130305492	130305492	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:130305492G>T	ENST00000358511.6	+	10	4144	c.4113G>T	c.(4111-4113)ctG>ctT	p.L1371L	COL6A6_ENST00000453409.2_Silent_p.L1371L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1371	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAGCCGGCTGTCAAAGCAGC	0.363000													4	48					0.000602214	0.00067027	0.184627	1	0
TRRAP	8295	broad.mit.edu	37	7	98609796	98609796	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:98609796G>A	ENST00000359863.4	+	72	11607	c.11398G>A	c.(11398-11400)Gag>Aag	p.E3800K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E3771K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E3789K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3800	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGGGCAGCCAGAGAACATGGA	0.582000													5	59					0	0	0.248553	0	0
OCA2	4948	broad.mit.edu	37	15	28000600	28000600	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:28000600C>A	ENST00000354638.3	-	24	2606	c.2451G>T	c.(2449-2451)atG>atT	p.M817I	OCA2_ENST00000353809.5_Missense_Mutation_p.M793I	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	817					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACACAACCATCATTGGGA	0.428000									Oculocutaneous Albinism				9	64					4.3838e-07	5.42848e-07	0.105934	1	0
SLC4A1	6521	broad.mit.edu	37	17	42328954	42328954	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:42328954G>T	ENST00000262418.6	-	18	2469	c.2314C>A	c.(2314-2316)Ctg>Atg	p.L772M		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	772	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGATGGACAGGCCTGTGGGG	0.637000													6	49					1.06961e-07	1.34615e-07	0.278610	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140866889	140866889	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140866889C>T	ENST00000306593.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.R717C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGTGTCTTCGTGGGGCAGC	0.547000													6	90					0	0	0.278610	0	0
CNTROB	116840	broad.mit.edu	37	17	7849270	7849270	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:7849270C>T	ENST00000380262.3	+	13	2884	c.1959C>T	c.(1957-1959)ccC>ccT	p.P653P	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.P653P|CNTROB_ENST00000565740.1_Silent_p.P653P	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	653	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTTTCCAGCCCCTGGAGCCCA	0.567000													15	139					0	0	0.132662	0	0
SCN2A	6326	broad.mit.edu	37	2	166201305	166201305	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:166201305G>A	ENST00000357398.3	+	16	3093	c.2803G>A	c.(2803-2805)Gtg>Atg	p.V935M	SCN2A_ENST00000375427.2_Missense_Mutation_p.V935M|SCN2A_ENST00000283256.6_Missense_Mutation_p.V935M|SCN2A_ENST00000375437.2_Missense_Mutation_p.V935M			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	935					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CTTCCTGATCGTGTTCCGCGT	0.493000													28	212					0	0	0.134883	0	0
SLC22A4	6583	broad.mit.edu	37	5	131647907	131647907	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:131647907C>G	ENST00000200652.3	+	2	621	c.447C>G	c.(445-447)ttC>ttG	p.F149L	SLC22A4_ENST00000491257.1_3'UTR|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	149					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCTCCCTGTTCTTCGTAGGCG	0.597000													7	269					0	0	0.248553	0	0
PCNX	22990	broad.mit.edu	37	14	71513752	71513752	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:71513752C>G	ENST00000304743.2	+	21	4536	c.4090C>G	c.(4090-4092)Cca>Gca	p.P1364A	PCNX_ENST00000439984.3_Missense_Mutation_p.P1253A|PCNX_ENST00000238570.5_Missense_Mutation_p.P1364A	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1364						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TATAATCTATCCATTGATTGT	0.368000													9	71					0	0	0.093190	0	0
CHL1	10752	broad.mit.edu	37	3	432477	432477	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:432477A>G	ENST00000256509.2	+	21	3206	c.2564A>G	c.(2563-2565)cAt>cGt	p.H855R	CHL1_ENST00000397491.2_Missense_Mutation_p.H839R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	839	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GACAGAGTACATGGACGTCTG	0.383000													10	48					0	0	0.093190	0	0
SHISA3	152573	broad.mit.edu	37	4	42403344	42403344	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:42403344C>A	ENST00000319234.4	+	2	811	c.593C>A	c.(592-594)aCc>aAc	p.T198N		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	198					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCATACACCACCAGCCACTCA	0.657000													17	44					1.2644e-06	1.53872e-06	0.219247	1	0
NR1I3	9970	broad.mit.edu	37	1	161206264	161206264	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:161206264C>A	ENST00000367983.4	-	2	386	c.92G>T	c.(91-93)tGc>tTc	p.C31F	NR1I3_ENST00000367985.3_Missense_Mutation_p.C31F|NR1I3_ENST00000367980.2_Missense_Mutation_p.C31F|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000511944.1_Missense_Mutation_p.C31F|NR1I3_ENST00000367979.2_Missense_Mutation_p.C31F|NR1I3_ENST00000428574.2_Missense_Mutation_p.C31F|NR1I3_ENST00000367984.4_Missense_Mutation_p.C31F|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.C31F|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.C31F|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.C31F|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.C31F|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.C31F			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	31					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAAACCCTTGCAGCCCTCACA	0.542000													24	105					8.58068e-18	1.30717e-17	0.125774	1	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713635	32713635	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:32713635T>A	ENST00000374940.3	+	3	501	c.399T>A	c.(397-399)tgT>tgA	p.C133*		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	133	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTCATCTGTCTTGTGGACA	0.512000													27	134					0	0	0.193644	0	0
C19orf55	148137	broad.mit.edu	37	19	36259419	36259419	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:36259419G>T	ENST00000396908.4	+	12	1485	c.1412G>T	c.(1411-1413)gGa>gTa	p.G471V	C19orf55_ENST00000536037.1_3'UTR|C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	472										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGAAGGGAAGGAGATTCCCTG	0.493000													10	80					0.00010058	0.000114351	0.093190	1	0
DCAF8L1	139425	broad.mit.edu	37	X	27997945	27997945	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:27997945G>T	ENST00000441525.1	-	1	1621	c.1507C>A	c.(1507-1509)Cag>Aag	p.Q503K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	503										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTGACATGCTGATCTAGGCCA	0.488000													11	31					6.31663e-08	8.08185e-08	0.132662	1	0
CLASP1	23332	broad.mit.edu	37	2	122216416	122216416	+	Splice_Site	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:122216416C>G	ENST00000263710.4	-	13	1703	c.1314_splice	c.e13+1	p.R438_splice	CLASP1_ENST00000545861.1_Splice_Site_p.R206_splice|CLASP1_ENST00000541859.1_Splice_Site_p.R207_splice|CLASP1_ENST00000541377.1_Splice_Site_p.R438_splice|CLASP1_ENST00000455322.2_Splice_Site_p.R438_splice|CLASP1_ENST00000409078.3_Splice_Site_p.R438_splice|CLASP1_ENST00000397587.3_Splice_Site_p.R438_splice	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	438					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					ACATACTTACCCGAATAATTA	0.333000													5	43					0	0	0.184627	0	0
LAMA2	3908	broad.mit.edu	37	6	129636958	129636958	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:129636958G>A	ENST00000421865.2	+	26	3836	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1263	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGAGGCTCGGGAAGAAACAGG	0.418000													18	70					0	0	0.219247	0	0
BCL6	604	broad.mit.edu	37	3	187446979	187446979	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:187446979G>A	ENST00000406870.2	-	5	1580	c.1214C>T	c.(1213-1215)cCa>cTa	p.P405L	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P405L|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.P405L	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	405					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTAGGCTCGTGGGGAAAGGCG	0.617000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								11	124					0	0	0.069234	0	0
CCDC108	255101	broad.mit.edu	37	2	219900355	219900355	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:219900355G>T	ENST00000341552.5	-	5	472	c.389C>A	c.(388-390)tCc>tAc	p.S130Y	CCDC108_ENST00000295729.2_Missense_Mutation_p.S65Y|CCDC108_ENST00000410037.1_Missense_Mutation_p.S65Y|CCDC108_ENST00000409865.3_Missense_Mutation_p.S119Y|CCDC108_ENST00000324264.6_Missense_Mutation_p.S65Y|CCDC108_ENST00000441968.1_Missense_Mutation_p.S130Y|CCDC108_ENST00000453220.1_Missense_Mutation_p.S130Y	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	130						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTTTGGGGAGTGCATCTG	0.567000													20	147					7.41877e-09	9.69707e-09	0.234183	1	0
TFB1M	51106	broad.mit.edu	37	6	155581525	155581525	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:155581525C>A	ENST00000367166.4	-	6	731	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TGCACCACGCCCACGTCCACC	0.443000													8	43					2.17888e-05	2.53504e-05	0.058154	1	0
SLC17A8	246213	broad.mit.edu	37	12	100797850	100797850	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:100797850T>C	ENST00000323346.5	+	9	1401	c.1088T>C	c.(1087-1089)aTg>aCg	p.M363T	SLC17A8_ENST00000392989.3_Missense_Mutation_p.M313T	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	363					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CACATGGTTATGACAATCGTT	0.428000													23	57					0	0	0.294199	0	0
SLC30A9	10463	broad.mit.edu	37	4	42068596	42068596	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:42068596C>T	ENST00000264451.6	+	13	1282	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	368					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAATGAACTTCGTAGGAATGC	0.348000													4	58					0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179454006	179454006	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:179454006G>A	ENST00000589042.1	-	304	62670	c.62446C>T	c.(62446-62448)Cca>Tca	p.P20816S	TTN_ENST00000460472.2_Missense_Mutation_p.P11751S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18248S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11943S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19175S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11876S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19175	Fibronectin type-III 51.						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)			TTGACCCTTGGTGATCTTGTT	0.453000													26	133					0	0	0.144211	0	0
FARS2	10667	broad.mit.edu	37	6	5545560	5545560	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:5545560A>T	ENST00000324331.6	+	5	1388	c.1052A>T	c.(1051-1053)aAg>aTg	p.K351M	FARS2_ENST00000274680.4_Missense_Mutation_p.K351M			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	351					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ATTAATCAGAAGGTGAAGTTT	0.428000													35	112					0	0	0.257332	0	0
SLC24A2	25769	broad.mit.edu	37	9	19516323	19516323	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:19516323C>A	ENST00000341998.2	-	10	1875	c.1814G>T	c.(1813-1815)tGt>tTt	p.C605F	SLC24A2_ENST00000286344.3_Missense_Mutation_p.C588F	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	605					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACGATGGCACAGAAAAGGCC	0.537000													8	41					3.09899e-07	3.86006e-07	0.047766	1	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													3	47					0	0	0.115264	0	0
CASR	846	broad.mit.edu	37	3	122003780	122003780	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:122003780G>T	ENST00000498619.1	+	7	3447	c.3009G>T	c.(3007-3009)acG>acT	p.T1003T	CASR_ENST00000490131.1_Silent_p.T993T|CASR_ENST00000296154.5_Silent_p.T993T	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	993					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGAATTCTACGCACCAGAACT	0.572000													7	42					8.12818e-05	9.26591e-05	0.248553	1	0
CLTC	1213	broad.mit.edu	37	17	57724852	57724852	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:57724852C>T	ENST00000269122.3	+	3	618	c.344C>T	c.(343-345)tCt>tTt	p.S115F	CLTC_ENST00000393043.1_Missense_Mutation_p.S115F|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	115	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AAATGGATCTCTTTGAATACG	0.378000			T	"""ALK, TFE3"""	"""ALCL, renal """								11	136					0	0	0.105934	0	0
PTX4	390667	broad.mit.edu	37	16	1538421	1538421	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:1538421C>A	ENST00000293922.1	-	1	47	c.48G>T	c.(46-48)cgG>cgT	p.R16R	PTX4_ENST00000447419.2_Intron|PTX4_ENST00000440447.2_Intron	NM_001013658.1	NP_001013680.1	Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCGTTCACACCGACTGCCAC	0.672000													14	76					1.3612e-06	1.65178e-06	0.132662	1	0
FAM135B	51059	broad.mit.edu	37	8	139255292	139255292	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:139255292C>A	ENST00000395297.1	-	7	732	c.562G>T	c.(562-564)Ggc>Tgc	p.G188C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	188										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCAGGAGCCTCTTCCTGGA	0.463000										HNSCC(54;0.14)			8	22					7.48243e-07	9.15841e-07	0.058154	1	0
COL26A1	136227	broad.mit.edu	37	7	101063350	101063350	+	RNA	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:101063350G>T	ENST00000313669.7	+	0	443				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CAGAGCTGCCGGTGGCCGGGG	0.647000													8	74					4.68919e-08	6.01779e-08	0.069234	1	0
APOB	338	broad.mit.edu	37	2	21234046	21234046	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:21234046A>T	ENST00000233242.1	-	26	5821	c.5694T>A	c.(5692-5694)tcT>tcA	p.S1898S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1898					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGGCCATTACAGAACGGAAGA	0.488000													19	142					0	0	0.204396	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377732	125377732	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:125377732C>T	ENST00000297913.2	+	1	785	c.716C>T	c.(715-717)tCt>tTt	p.S239F	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						AAAACCTTTTCTACCTGCGGC	0.567000													6	112					0	0	0.278610	0	0
DPY19L1	23333	broad.mit.edu	37	7	34981404	34981404	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:34981404A>T	ENST00000310974.4	-	18	1587	c.1443T>A	c.(1441-1443)gtT>gtA	p.V481V		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	481						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GTGATGCCATAACACACATGT	0.358000													20	85					0	0	0.099896	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19518978	19518978	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:19518978A>T	ENST00000538714.1	+	26	3369	c.3365A>T	c.(3364-3366)cAg>cTg	p.Q1122L	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Q1046L|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Q1122L|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Q1053L|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Q1064L|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Q822L|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Q1230L|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Q1127L|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Q1008L	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1064							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GTTGACGAACAGGAAGAAACT	0.378000													13	42					0	0	0.105934	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209125	140209125	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140209125C>A	ENST00000529310.1	+	1	1563	c.1449C>A	c.(1447-1449)gaC>gaA	p.D483E	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D483E|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACGCGGACGCGCAGGAGA	0.662000													9	104					0.00621372	0.00667896	0.058154	1	0
TEP1	7011	broad.mit.edu	37	14	20848504	20848504	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:20848504C>A	ENST00000262715.5	-	34	4933	c.4893G>T	c.(4891-4893)caG>caT	p.Q1631H	TEP1_ENST00000556935.1_Missense_Mutation_p.Q1523H|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1631					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTCCAGGGGCTGGTTGGCTG	0.602000													13	142					9.31168e-06	1.10617e-05	0.105934	1	0
PPM1J	333926	broad.mit.edu	37	1	113253648	113253648	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:113253648G>C	ENST00000606505.1	-	2	135	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000359994.4_Silent_p.V158V|PPM1J_ENST00000309276.6_Silent_p.V364V|PPM1J_ENST00000464951.1_Silent_p.V158V																							CCTCCCCACAGACCAGAGGAA	0.567000													115	405					0	0	0.139131	0	0
ZMYND10	51364	broad.mit.edu	37	3	50380773	50380773	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:50380773C>T	ENST00000231749.3	-	5	1747	c.475G>A	c.(475-477)Gag>Aag	p.E159K	ZMYND10_ENST00000360165.3_Missense_Mutation_p.E159K|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	159						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCTCCCCCTCAGGGGGGCCA	0.602000										TSP Lung(30;0.18)			8	87					0	0	0.047766	0	0
LRP1B	53353	broad.mit.edu	37	2	142004888	142004888	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:142004888G>T	ENST00000389484.3	-	5	1470	c.499C>A	c.(499-501)Cag>Aag	p.Q167K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	167	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGCAGGTCTGGCTGCATGTA	0.408000										TSP Lung(27;0.18)			23	136					6.32553e-13	9.11178e-13	0.099896	1	0
CD96	10225	broad.mit.edu	37	3	111356049	111356049	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:111356049C>G	ENST00000352690.4	+	11	1568	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	CD96_ENST00000283285.5_Nonsense_Mutation_p.S459*	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	459	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTAGCAGTTTCACGGATACCT	0.383000									Opitz Trigonocephaly syndrome				8	87					0	0	0.080935	0	0
KIAA1549	57670	broad.mit.edu	37	7	138579244	138579244	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:138579244C>A	ENST00000440172.1	-	10	3924	c.3876G>T	c.(3874-3876)ccG>ccT	p.P1292P	KIAA1549_ENST00000242365.4_Silent_p.P1242P|KIAA1549_ENST00000422774.1_Silent_p.P1292P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1292						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTGGGATTCCGGAGACGGCC	0.493000			O	BRAF	pilocytic astrocytoma								19	64					5.35356e-11	7.48261e-11	0.264190	1	0
FTCD	10841	broad.mit.edu	37	21	47558547	47558547	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr21:47558547G>T	ENST00000397748.1	-	12	1361	c.1318C>A	c.(1318-1320)Cta>Ata	p.L440I	FTCD_ENST00000291670.5_Missense_Mutation_p.L440I|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.L440I|FTCD_ENST00000355384.2_Missense_Mutation_p.P425H|FTCD_ENST00000359679.2_Missense_Mutation_p.L440I|FTCD_ENST00000397743.1_Missense_Mutation_p.P425H			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	440	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCCTCCTGTAGGGCCGCCGTG	0.682000													4	6					0.0293803	0.0303848	0.248553	1	0
MPZL2	10205	broad.mit.edu	37	11	118133654	118133654	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:118133654C>G	ENST00000278937.2	-	2	345	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	MPZL2_ENST00000525647.1_5'UTR|MPZL2_ENST00000438295.2_Missense_Mutation_p.E73Q	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	73	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ACAAACTGCTCAGGTCCCCCG	0.443000													22	151					0	0	0.264190	0	0
CCDC141	285025	broad.mit.edu	37	2	179736237	179736237	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:179736237C>A	ENST00000420890.2	-	14	2239	c.2122G>T	c.(2122-2124)Gtg>Ttg	p.V708L	CCDC141_ENST00000295723.5_Missense_Mutation_p.V133L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	133							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTGCAGACACAGGCATAAGT	0.398000													28	127					1.61788e-16	2.42539e-16	0.163468	1	0
AGTR1	185	broad.mit.edu	37	3	148459479	148459479	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:148459479G>T	ENST00000542281.1	+	4	1103	c.657G>T	c.(655-657)tgG>tgT	p.W219C	AGTR1_ENST00000349243.3_Missense_Mutation_p.W219C|AGTR1_ENST00000461609.1_Missense_Mutation_p.W219C|AGTR1_ENST00000497524.1_Missense_Mutation_p.W219C|AGTR1_ENST00000404754.2_Missense_Mutation_p.W219C|AGTR1_ENST00000475347.1_Missense_Mutation_p.W219C|AGTR1_ENST00000402260.1_Missense_Mutation_p.W219C|AGTR1_ENST00000418473.2_Missense_Mutation_p.W219C|AGTR1_ENST00000474935.1_Missense_Mutation_p.W219C	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	219					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTCTTATTTGGAAGGCCCTAA	0.358000													4	36					0.00116845	0.00128196	0.217242	1	0
CYP2J2	1573	broad.mit.edu	37	1	60392368	60392368	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:60392368A>T	ENST00000371204.3	-	1	94	c.51T>A	c.(49-51)caT>caA	p.H17Q		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	17					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					GAGTCCGAGGATGGACCACTG	0.662000													5	23					0	0	0.184627	0	0
PIK3R2	5296	broad.mit.edu	37	19	18277085	18277085	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:18277085G>T	ENST00000593731.1	+	12	2092	c.1532G>T	c.(1531-1533)cGt>cTt	p.R511L	PIK3R2_ENST00000222254.7_Missense_Mutation_p.R511L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	511					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CGCTTCCGGCGTGAGGGCAAC	0.557000													6	44					0.0293803	0.0303848	0.248553	1	0
DNAH7	56171	broad.mit.edu	37	2	196682493	196682493	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:196682493C>T	ENST00000312428.6	-	50	9452	c.9352G>A	c.(9352-9354)Gtg>Atg	p.V3118M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3118	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGTGCCACCACAATTCCCAGA	0.328000													7	41					0	0	0.278610	0	0
SOAT1	6646	broad.mit.edu	37	1	179320525	179320525	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:179320525C>T	ENST00000367619.3	+	15	1667	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	SOAT1_ENST00000535686.1_Silent_p.F244F|SOAT1_ENST00000539888.1_Silent_p.F443F|SOAT1_ENST00000540564.1_Silent_p.F450F	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	508					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTCTCTTTTCTTGGGCAATG	0.408000													14	132					0	0	0.132662	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167511	140167511	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140167511G>T	ENST00000504120.2	+	1	1636	c.1636G>T	c.(1636-1638)Ggc>Tgc	p.G546C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G546C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCTCTGGGCAGCAACGT	0.672000													14	107					2.32416e-17	3.52158e-17	0.249174	1	0
SMG1	23049	broad.mit.edu	37	16	18846339	18846339	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:18846339C>A	ENST00000446231.2	-	49	8617	c.8205G>T	c.(8203-8205)gtG>gtT	p.V2735V	SMG1_ENST00000389467.3_Silent_p.V2735V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2735					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACAAACTGGCACAGTGACAG	0.418000													29	197					1.90571e-15	2.82686e-15	0.203993	1	0
MYH15	22989	broad.mit.edu	37	3	108219047	108219047	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:108219047G>A	ENST00000273353.3	-	5	530	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	158	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTTGTAGGCGGCCATGACTT	0.473000													3	61					0	0	0.115264	0	0
FRG2B	441581	broad.mit.edu	37	10	135440208	135440208	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:135440208G>T	ENST00000443774.1	-	1	88	c.39C>A	c.(37-39)tcC>tcA	p.S13S	FRG2B_ENST00000425520.1_Silent_p.S13S			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	13						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ACTGGATGGAGGAGCAGTGGA	0.502000													9	295					4.3838e-07	5.42848e-07	0.105934	1	0
GPRC6A	222545	broad.mit.edu	37	6	117113927	117113927	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:117113927G>T	ENST00000310357.3	-	6	2180	c.2159C>A	c.(2158-2160)aCa>aAa	p.T720K	GPRC6A_ENST00000368549.3_Missense_Mutation_p.T649K|GPRC6A_ENST00000530250.1_Missense_Mutation_p.T545K	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	720					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TAGCCAGAGTGTGCAAATGAC	0.468000													7	55					1.06961e-07	1.34615e-07	0.278610	1	0
CACNA1C	775	broad.mit.edu	37	12	2786912	2786912	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:2786912C>A	ENST00000399655.1	+	41	5235	c.4970C>A	c.(4969-4971)aCa>aAa	p.T1657K	CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1657K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1657K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1676K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1657K|CACNA1C_ENST00000347598.4_Missense_Mutation_p.T1705K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1685K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1698K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1676K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1674K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1665K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1657K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1677K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1676K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1657K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1657K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1657K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1665K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1657K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1657K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1663K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1682K	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1705					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCTTGCGCACACTGCATGAC	0.632000													3	19					0.115264	0.118625	0.115264	1	0
CPQ	10404	broad.mit.edu	37	8	98078341	98078341	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:98078341G>T	ENST00000220763.5	+	7	1368	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	CPQ_ENST00000529551.1_3'UTR	NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	386					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										CCATCATGGAGGAGGTTATGA	0.522000													12	84					2.27111e-07	2.83721e-07	0.093190	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19756022	19756022	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr21:19756022G>T	ENST00000284885.3	-	4	451	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	140	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTTGAATCAGTTCTTCTTTT	0.378000													8	34					0.00448238	0.00485496	0.047766	1	0
M1AP	130951	broad.mit.edu	37	2	74834248	74834248	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:74834248C>G	ENST00000290536.5	-	4	645	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	M1AP_ENST00000409585.1_Missense_Mutation_p.E177Q|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.E177Q	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TTTGTGACCTCAACGACCTGA	0.443000													9	125					0	0	0.069234	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475903	140475903	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140475903C>T	ENST00000194155.4	+	1	1677	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		510	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCATCAACGCGGACAACGGC	0.701000													9	206					0	0	0.080935	0	0
KRT24	192666	broad.mit.edu	37	17	38855799	38855799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:38855799C>A	ENST00000264651.2	-	6	1314	c.1258G>T	c.(1258-1260)Gag>Tag	p.E420*		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	420	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CATTTAGTCTCACCCCAGATC	0.567000													8	281					9.70103e-10	1.30012e-09	0.069234	1	0
PDE4B	5142	broad.mit.edu	37	1	66384438	66384438	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:66384438G>A	ENST00000329654.4	+	3	388	c.201G>A	c.(199-201)gaG>gaA	p.E67E	PDE4B_ENST00000371049.3_Silent_p.E67E	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	67					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	GGACTCCTGAGGGAGATGGTA	0.498000													10	124					0	0	0.080935	0	0
SGIP1	84251	broad.mit.edu	37	1	67155919	67155919	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:67155919T>C	ENST00000371037.4	+	17	1567	c.1490T>C	c.(1489-1491)aTa>aCa	p.I497T	SGIP1_ENST00000371035.3_Missense_Mutation_p.I287T|SGIP1_ENST00000371036.3_Missense_Mutation_p.I297T|SGIP1_ENST00000371039.1_Missense_Mutation_p.I298T|SGIP1_ENST00000237247.6_Missense_Mutation_p.I528T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	497	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTCCTCCAATAGCACCCTTA	0.458000													43	217					0	0	0.139131	0	0
WISP3	8838	broad.mit.edu	37	6	112382436	112382436	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:112382436G>T	ENST00000361714.1	+	2	390	c.345G>T	c.(343-345)ggG>ggT	p.G115G	WISP3_ENST00000368666.2_Silent_p.G97G|WISP3_ENST00000604763.1_Silent_p.G97G|WISP3_ENST00000368663.3_Silent_p.G75G|WISP3_ENST00000230529.5_Silent_p.G97G			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	97	IGFBP N-terminal.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CACACAAAGGGCTGTATTGTG	0.498000													12	75					2.31682e-05	2.68815e-05	0.132662	1	0
GJA4	2701	broad.mit.edu	37	1	35259971	35259971	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:35259971G>A	ENST00000342280.4	+	2	245	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	53					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATCAGATTTCGAGTGTAACAC	0.597000													18	168					0	0	0.234183	0	0
PSG2	5670	broad.mit.edu	37	19	43585354	43585354	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:43585354T>A	ENST00000406487.1	-	2	207	c.109A>T	c.(109-111)Acg>Tcg	p.T37S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	37	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GCTTCAATCGTGACTTGGGCA	0.473000													29	237					0	0	0.193644	0	0
TREML4	285852	broad.mit.edu	37	6	41197817	41197817	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:41197817G>C	ENST00000341495.2	+	4	567	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	TREML4_ENST00000448827.2_Missense_Mutation_p.E155Q	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	155						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CACTTCTCCAGAGGGGACCTC	0.532000													11	104					0	0	0.093190	0	0
TLN2	83660	broad.mit.edu	37	15	63058592	63058592	+	Missense_Mutation	SNP	C	C	T	rs146711240		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:63058592C>T	ENST00000561311.1	+	40	5397	c.5167C>T	c.(5167-5169)Cgg>Tgg	p.R1723W	TLN2_ENST00000306829.6_Missense_Mutation_p.R1723W|TLN2_ENST00000472902.1_Missense_Mutation_p.R116W			Q9Y4G6	TLN2_HUMAN	talin 2	1723					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CACAGCGGCTCGGGGAGAAGC	0.542000													8	62					0	0	0.080935	0	0
ATN1	1822	broad.mit.edu	37	12	7048325	7048325	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:7048325G>C	ENST00000356654.4	+	7	3436	c.3199G>C	c.(3199-3201)Gat>Cat	p.D1067H	ATN1_ENST00000396684.2_Missense_Mutation_p.D1067H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1067					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCACCAGCAAGATGCTATCCA	0.597000													6	45					0	0	0.217242	0	0
TET3	200424	broad.mit.edu	37	2	74328994	74328994	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:74328994C>G	ENST00000409262.3	+	9	4674	c.4674C>G	c.(4672-4674)ttC>ttG	p.F1558L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1558							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTGGTCTTCTACCAGCACA	0.662000													8	40					0	0	0.047766	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755507	140755507	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140755507G>A	ENST00000517434.1	+	1	1857	c.1857G>A	c.(1855-1857)gtG>gtA	p.V619V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTCAGTGGGCCTGCACA	0.687000													6	62					0	0	0.217242	0	0
GTSE1	51512	broad.mit.edu	37	22	46724732	46724732	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr22:46724732C>G	ENST00000454366.1	+	10	2084	c.1872C>G	c.(1870-1872)gcC>gcG	p.A624A		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	605					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAGTACTGCCACAGAAGTAG	0.562000													23	132					0	0	0.099896	0	0
KALRN	8997	broad.mit.edu	37	3	124117605	124117605	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:124117605G>T	ENST00000360013.3	+	13	2354	c.2227G>T	c.(2227-2229)Gtc>Ttc	p.V743F	KALRN_ENST00000460856.1_Missense_Mutation_p.V743F|KALRN_ENST00000240874.3_Missense_Mutation_p.V743F	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	743					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						CATCGAGTCGGTCCTGCAGCA	0.567000													23	139					6.12954e-19	9.40528e-19	0.099896	1	0
NTRK1	4914	broad.mit.edu	37	1	156843466	156843466	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:156843466C>G	ENST00000368196.3	+	8	1012	c.892C>G	c.(892-894)Cac>Gac	p.H298D	NTRK1_ENST00000358660.3_Missense_Mutation_p.H298D|NTRK1_ENST00000392302.2_Missense_Mutation_p.H268D|NTRK1_ENST00000524377.1_Missense_Mutation_p.H298D	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	298					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGAGATGCACCACTGGTGCAT	0.627000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			8	21					0	0	0.058154	0	0
COPS3	8533	broad.mit.edu	37	17	17168235	17168235	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:17168235C>G	ENST00000539941.2	-	6	650	c.442G>C	c.(442-444)Gat>Cat	p.D148H	COPS3_ENST00000268717.5_Missense_Mutation_p.D168H|COPS3_ENST00000439936.2_Missense_Mutation_p.D148H	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	168					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTACAGATATCCATCATATCC	0.348000													6	93					0	0	0.248553	0	0
TENM1	10178	broad.mit.edu	37	X	124097385	124097385	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:124097385C>A	ENST00000422452.2	-	1	281		c.e1+1		TENM1_ENST00000371130.3_Splice_Site	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAAAAACATACCTTGAGTAGA	0.338000													25	46					5.45024e-15	7.98677e-15	0.279207	1	0
POM121L12	285877	broad.mit.edu	37	7	53103577	53103577	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:53103577G>T	ENST00000408890.4	+	1	229	c.213G>T	c.(211-213)ccG>ccT	p.P71P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	71										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGGCGCCCGGTGCCCAGCA	0.716000													10	25					0.0167234	0.0175741	0.105934	1	0
ATP13A2	23400	broad.mit.edu	37	1	17322508	17322508	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:17322508T>C	ENST00000452699.1	-	15	1679	c.1490A>G	c.(1489-1491)aAc>aGc	p.N497S	ATP13A2_ENST00000326735.8_Missense_Mutation_p.N502S|ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.N497S	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	502					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCCCCCCAGGTTGATGCGCAG	0.662000													6	74					0	0	0.278610	0	0
ACSL6	23305	broad.mit.edu	37	5	131321140	131321140	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:131321140A>T	ENST00000379264.2	-	9	984	c.876T>A	c.(874-876)ccT>ccA	p.P292P	ACSL6_ENST00000379244.1_Silent_p.P267P|ACSL6_ENST00000431707.1_Silent_p.P247P|ACSL6_ENST00000379255.1_Silent_p.P232P|ACSL6_ENST00000357096.1_Silent_p.P232P|ACSL6_ENST00000379240.1_Silent_p.P267P|ACSL6_ENST00000379249.3_Silent_p.P267P|ACSL6_ENST00000544770.1_Silent_p.P176P|ACSL6_ENST00000379272.2_Silent_p.P282P|ACSL6_ENST00000296869.4_Silent_p.P292P|ACSL6_ENST00000543479.1_Silent_p.P267P|ACSL6_ENST00000379246.1_Silent_p.P278P	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	267					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGGTCATCAGGCTGCGGGG	0.637000													4	66					0	0	0.184627	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482452	152482452	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:152482452G>C	ENST00000356661.5	-	3	777	c.559C>G	c.(559-561)Cag>Gag	p.Q187E		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	187	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGATCTGATTATCACCC	0.542000													17	88					0	0	0.234183	0	0
FIG4	9896	broad.mit.edu	37	6	110059537	110059537	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:110059537G>T	ENST00000230124.3	+	7	780	c.656G>T	c.(655-657)gGg>gTg	p.G219V	FIG4_ENST00000368941.1_Intron|FIG4_ENST00000441478.2_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	219	SAC.				cell death	endosome membrane	protein binding	p.G219V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GGGGTATTTGGGATCTGTAGT	0.299000													11	79					5.50884e-06	6.57181e-06	0.093190	1	0
AATK	9625	broad.mit.edu	37	17	79094939	79094939	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:79094939G>C	ENST00000326724.4	-	11	2821	c.2797C>G	c.(2797-2799)Cga>Gga	p.R933G	AATK_ENST00000417379.1_Missense_Mutation_p.R830G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	933						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TCCAGCGCTCGCGGCTGCCCT	0.642000													3	16					0	0	0.115264	0	0
MMP16	4325	broad.mit.edu	37	8	89180114	89180114	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:89180114G>A	ENST00000286614.6	-	4	774	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	165					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCAAATGTCAGAGGAGTTACA	0.418000													9	65					0	0	0.069234	0	0
AKAP13	11214	broad.mit.edu	37	15	86123226	86123226	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:86123226C>G	ENST00000394518.2	+	7	2022	c.1927C>G	c.(1927-1929)Caa>Gaa	p.Q643E	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q643E	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	643					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATCTCATGCTCAAAGCCAAAA	0.453000													14	131					0	0	0.105934	0	0
POTEE	445582	broad.mit.edu	37	2	131976352	131976352	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:131976352G>A	ENST00000356920.5	+	1	471	c.377G>A	c.(376-378)aGc>aAc	p.S126N	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S126N|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	126							ATP binding										TACGATGACAGCGCCTTCATG	0.597000													26	97					0	0	0.125774	0	0
ACTB	60	broad.mit.edu	37	7	5569226	5569226	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:5569226G>A	ENST00000331789.5	-	2	254	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	21					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGTCGCCCGCGAAGCCGGCCT	0.716000													12	46					0	0	0.132662	0	0
ZNF407	55628	broad.mit.edu	37	18	72346697	72346697	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:72346697G>T	ENST00000299687.5	+	1	3722	c.3722G>T	c.(3721-3723)gGa>gTa	p.G1241V	ZNF407_ENST00000577538.1_Missense_Mutation_p.G1241V|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1241V|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1241V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGAGACGGTGGAGGTGTTGTC	0.527000													5	62					8.12818e-05	9.26591e-05	0.248553	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720231	140720231	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140720231C>T	ENST00000394576.2	+	1	1693	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.P565S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTACCCTGCCTTCCC	0.632000													26	215					0	0	0.183431	0	0
KCNQ3	3786	broad.mit.edu	37	8	133146536	133146536	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:133146536C>A	ENST00000388996.4	-	13	2220		c.e13+1		KCNQ3_ENST00000521134.1_Splice_Site|KCNQ3_ENST00000519445.1_Intron	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3						axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTGGCCCCACCTGGGAGATT	0.532000													15	94					7.45023e-12	1.05701e-11	0.219247	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746068	77746068	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:77746068A>T	ENST00000409088.3	-	3	1341	c.927T>A	c.(925-927)tcT>tcA	p.S309S	LRRTM4_ENST00000409093.1_Silent_p.S309S|LRRTM4_ENST00000409911.1_Silent_p.S310S|LRRTM4_ENST00000409884.1_Silent_p.S309S|LRRTM4_ENST00000409282.1_Silent_p.S310S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	309						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ACATATTTCCAGACAATGTGA	0.373000													6	22					0	0	0.217242	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305637	110305637	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:110305637C>A	ENST00000239690.4	-	4	950	c.576G>T	c.(574-576)ttG>ttT	p.L192F	NUDCD1_ENST00000427660.2_Missense_Mutation_p.L163F	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	192										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTTTCATATCCAATTCCTCTT	0.368000													25	110					1.80694e-10	2.47651e-10	0.144211	1	0
TSIX	9383	broad.mit.edu	37	X	73046055	73046055	+	RNA	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:73046055C>A	ENST00000604411.1	+	0	34016				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CATCTCTTCACATTTTTCTCT	0.438000													8	53					2.74318e-10	3.72949e-10	0.058154	1	0
THSD7B	80731	broad.mit.edu	37	2	138169212	138169212	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:138169212C>A	ENST00000409968.1	+	14	2907	c.2729C>A	c.(2728-2730)tCt>tAt	p.S910Y	THSD7B_ENST00000413152.2_Missense_Mutation_p.S879Y|THSD7B_ENST00000272643.3_Missense_Mutation_p.S910Y|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCAGGATTCTGACCTTTAC	0.393000													15	109					1.5739e-10	2.17116e-10	0.146539	1	0
LILRB2	10288	broad.mit.edu	37	19	54782798	54782798	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:54782798C>A	ENST00000391748.1	-	6	951	c.824G>T	c.(823-825)gGg>gTg	p.G275V	LILRB2_ENST00000434421.1_Missense_Mutation_p.G159V|LILRB2_ENST00000391746.1_Missense_Mutation_p.G275V|LILRB2_ENST00000314446.5_Missense_Mutation_p.G275V|LILRB2_ENST00000391749.4_Missense_Mutation_p.G275V	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	275	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGAGAGCCCAGCCTGGGG	0.627000													23	48					9.57634e-11	1.3297e-10	0.279207	1	0
DYTN	391475	broad.mit.edu	37	2	207557951	207557951	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:207557951G>T	ENST00000452335.2	-	9	1044	c.928C>A	c.(928-930)Cag>Aag	p.Q310K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	310						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCCAGCAGCTGCTGCCTTCTC	0.557000													3	24					0.00909568	0.00970282	0.150653	1	0
CDK15	65061	broad.mit.edu	37	2	202672589	202672589	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:202672589C>A	ENST00000450471.2	+	3	368	c.282C>A	c.(280-282)agC>agA	p.S94R	CDK15_ENST00000374598.4_Missense_Mutation_p.S94R|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.S94R|CDK15_ENST00000410091.3_Missense_Mutation_p.S43R|CDK15_ENST00000260967.2_Missense_Mutation_p.S43R	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	94							ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGAGGAAGAGCCTCCCTTTTG	0.468000													10	50					0.00010058	0.000114351	0.093190	1	0
SI	6476	broad.mit.edu	37	3	164776975	164776975	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:164776975T>A	ENST00000264382.3	-	11	1321	c.1259A>T	c.(1258-1260)cAg>cTg	p.Q420L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	420	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GACATATTTCTGTCCATGGTC	0.323000										HNSCC(35;0.089)			3	10					0	0	0.115264	0	0
IBA57	200205	broad.mit.edu	37	1	228362987	228362987	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:228362987G>T	ENST00000366711.3	+	3	846	c.844G>T	c.(844-846)Gtc>Ttc	p.V282F	IBA57_ENST00000546123.1_Missense_Mutation_p.V89F|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	282					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CCTCTTCCCTGTCCGGTTCTT	0.637000													8	75					0.00621372	0.00667896	0.058154	1	0
OR52B2	255725	broad.mit.edu	37	11	6191112	6191112	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:6191112C>A	ENST00000530810.1	-	1	526	c.445G>T	c.(445-447)Gcc>Tcc	p.A149S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGATGACGGCCAGAGCAATC	0.507000													7	29					1.06961e-07	1.34615e-07	0.278610	1	0
FCHSD2	9873	broad.mit.edu	37	11	72695253	72695253	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:72695253G>A	ENST00000409314.1	-	8	753	c.585C>T	c.(583-585)gcC>gcT	p.A195A	FCHSD2_ENST00000409418.4_Silent_p.A195A|FCHSD2_ENST00000458644.2_Silent_p.A35A|FCHSD2_ENST00000409853.1_Silent_p.A139A|FCHSD2_ENST00000311172.7_Silent_p.A139A			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	195							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CAGATCGCCGGGCTTTTAACT	0.393000													5	63					0	0	0.217242	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176688	140176688	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140176688C>T	ENST00000526136.1	+	1	2139	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	PCDHA2_ENST00000378132.1_Silent_p.L713L|PCDHA2_ENST00000520672.2_Silent_p.L713L|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGGTGCTCACGGTGCTGC	0.692000													8	186					0	0	0.080935	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422312	47422312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:47422312C>G	ENST00000404338.3	+	1	380	c.380C>G	c.(379-381)tCa>tGa	p.S127*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	127					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AAGCTTGCATCAGCTGAAAAA	0.488000													3	31					0	0	0.115264	0	0
PLCB1	23236	broad.mit.edu	37	20	8639285	8639285	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:8639285C>G	ENST00000378641.3	+	9	1271	c.796C>G	c.(796-798)Cta>Gta	p.L266V	PLCB1_ENST00000338037.6_Missense_Mutation_p.L266V|PLCB1_ENST00000378637.2_Missense_Mutation_p.L266V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	266				L -> P (in Ref. 2; AAF86613).	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						TTATCCACCTCTAAAACAAGA	0.408000													13	113					0	0	0.160694	0	0
MIR892A	100126342	broad.mit.edu	37	X	145078215	145078215	+	RNA	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:145078215G>T	ENST00000401124.1	-	0	46					NR_030584.1																						AAAGGACACAGTGACATGTAG	0.517000													45	122					3.40343e-31	5.36816e-31	0.139131	1	0
TMTC3	160418	broad.mit.edu	37	12	88542217	88542217	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:88542217T>C	ENST00000266712.6	+	2	345	c.125T>C	c.(124-126)tTg>tCg	p.L42S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	42						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AACAAAGACTTGCATCCATCT	0.358000													19	46					0	0	0.189662	0	0
OR2F2	135948	broad.mit.edu	37	7	143633062	143633062	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:143633062C>T	ENST00000408955.2	+	1	804	c.737C>T	c.(736-738)aCg>aTg	p.T246M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	246					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)					TCTCACCTCACGGTGGTTGCC	0.517000													27	78					0	0	0.144211	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535781	69535781	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:69535781C>G	ENST00000338206.5	-	1	565	c.556G>C	c.(556-558)Gga>Cga	p.G186R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	186					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGAAATCCTCCACCATTCTTC	0.388000													17	209					0	0	0.189662	0	0
ARSG	22901	broad.mit.edu	37	17	66352936	66352936	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:66352936A>T	ENST00000448504.2	+	6	1491	c.695A>T	c.(694-696)cAg>cTg	p.Q232L	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.Q68L	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	232					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTTCATCCAGCGTGCAAGG	0.592000													14	80					0	0	0.160694	0	0
CLMP	79827	broad.mit.edu	37	11	122968504	122968504	+	Splice_Site	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:122968504A>T	ENST00000448775.2	-	2	525	c.186_splice	c.e2+1	p.V62_splice		NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	62	Ig-like C2-type 1.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TCTACTTACCACTTTTTGGTT	0.488000													8	79					0	0	0.058154	0	0
SNX31	169166	broad.mit.edu	37	8	101586163	101586163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:101586163G>T	ENST00000311812.2	-	14	1403	c.1253C>A	c.(1252-1254)tCa>tAa	p.S418*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.S319*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	418					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GCTTTTTCTTGATAGAAAACT	0.328000													7	43					0.00307968	0.00334851	0.278610	1	0
CLNK	116449	broad.mit.edu	37	4	10509589	10509589	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:10509589C>T	ENST00000226951.6	-	17	1217	c.978G>A	c.(976-978)gaG>gaA	p.E326E	CLNK_ENST00000515667.1_Silent_p.E64E	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	326	SH2.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TTACCTTGTTCTCCTTCATGA	0.423000													3	14					0	0	0.150653	0	0
CD72	971	broad.mit.edu	37	9	35611863	35611863	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:35611863T>C	ENST00000396757.1	-	8	1052	c.888A>G	c.(886-888)tcA>tcG	p.S296S	CD72_ENST00000259633.4_Silent_p.S296S|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	296	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTCCAATATGAATTCCCTG	0.428000											OREG0019172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	128					0	0	0.119110	0	0
COL22A1	169044	broad.mit.edu	37	8	139606328	139606328	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:139606328G>T	ENST00000303045.6	-	63	4993	c.4547C>A	c.(4546-4548)cCc>cAc	p.P1516H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1496H|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1516	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTCCCCCATGGGGCCGGCCCG	0.657000										HNSCC(7;0.00092)			4	44					0.00116845	0.00128196	0.217242	1	0
SCN8A	6334	broad.mit.edu	37	12	52182532	52182532	+	Splice_Site	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:52182532G>A	ENST00000354534.5	+	23	4459	c.4281_splice	c.e23+1	p.K1427_splice	SCN8A_ENST00000545061.1_Splice_Site_p.K1386_splice	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1427					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTCCCGGAAGGTAAGGATGT	0.488000													5	24					0	0	0.047766	0	0
TRIP6	7205	broad.mit.edu	37	7	100470816	100470816	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:100470816C>G	ENST00000200457.4	+	9	1682	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	441	LIM zinc-binding 3.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCTCTCCTCTGAGGGCGAG	0.612000													7	78					0	0	0.058154	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24893016	24893016	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:24893016G>A	ENST00000382071.2	+	3	312	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R76Q			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	76	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGGAGAACGAGGTTAGTAG	0.453000													5	155					0	0	0.184627	0	0
PVRL4	81607	broad.mit.edu	37	1	161044018	161044018	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:161044018C>A	ENST00000368012.3	-	6	1448	c.1146G>T	c.(1144-1146)atG>atT	p.M382I	PVRL4_ENST00000486694.1_5'UTR|PVRL4_ENST00000453926.2_Missense_Mutation_p.M116I	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	382					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATTTCTGGGTCATCTGCTGGG	0.587000													14	79					6.49762e-13	9.34378e-13	0.175082	1	0
DCST2	127579	broad.mit.edu	37	1	154997076	154997076	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:154997076C>G	ENST00000368424.3	-	11	1672	c.1614G>C	c.(1612-1614)gaG>gaC	p.E538D	DCST2_ENST00000295536.5_Missense_Mutation_p.E538D	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	538						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGAGATCCTCTCCTGGTGCG	0.587000													12	46					0	0	0.132662	0	0
RAD54B	25788	broad.mit.edu	37	8	95399223	95399223	+	Silent	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:95399223T>A	ENST00000336148.5	-	11	2098	c.1974A>T	c.(1972-1974)cgA>cgT	p.R658R		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TTTCAGTAGGTCGAAGTTCGT	0.378000								Direct reversal of damage;Homologous recombination					9	29					0	0	0.069234	0	0
PVRL1	5818	broad.mit.edu	37	11	119508860	119508860	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:119508860G>T	ENST00000341398.2	-	8	1324	c.1325C>A	c.(1324-1326)cCc>cAc	p.P442H	RP11-196E1.3_ENST00000601999.1_RNA|RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGGTAGGAGGGGGAGACCCC	0.627000													6	30					2.7689e-08	3.59151e-08	0.248553	1	0
TBC1D31	93594	broad.mit.edu	37	8	124141397	124141397	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:124141397G>A	ENST00000287380.1	+	15	2299	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	TBC1D31_ENST00000378080.2_Silent_p.L630L|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E737K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E737K|TBC1D31_ENST00000522420.1_Missense_Mutation_p.E632K|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E291K|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E614K	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TCGTAAAGCTGAAGAAACAAG	0.378000													6	57					0	0	0.217242	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692770	23692770	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:23692770C>G	ENST00000397312.2	-	7	1139	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	ELAVL2_ENST00000544538.1_Missense_Mutation_p.E289Q|ELAVL2_ENST00000380110.4_Missense_Mutation_p.E319Q|ELAVL2_ENST00000223951.6_Missense_Mutation_p.E276Q|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E289Q	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	289	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGGATACTCTCATCTGCGTCA	0.463000													27	136					0	0	0.183431	0	0
CDH12	1010	broad.mit.edu	37	5	21854783	21854783	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:21854783T>A	ENST00000382254.1	-	7	1729	c.643A>T	c.(643-645)Aca>Tca	p.T215S	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.T215S|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	215	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATTTACCTGTCTTGGGATCA	0.398000										HNSCC(59;0.17)			7	55					0	0	0.047766	0	0
UROC1	131669	broad.mit.edu	37	3	126220124	126220124	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:126220124C>A	ENST00000383579.3	-	11	1115	c.1082G>T	c.(1081-1083)aGg>aTg	p.R361M	UROC1_ENST00000290868.2_Splice_Site	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	301					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCTTGCTTCCCTGGAAGGACA	0.587000													19	95					6.44725e-10	8.69558e-10	0.249174	1	0
USH2A	7399	broad.mit.edu	37	1	216138684	216138684	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:216138684G>A	ENST00000366943.2	-	37	7481	c.7095C>T	c.(7093-7095)ttC>ttT	p.F2365F	USH2A_ENST00000307340.3_Silent_p.F2365F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2365	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATATCCCAGTGAAAAGGACTG	0.363000										HNSCC(13;0.011)			10	145					0	0	0.119110	0	0
NPY5R	4889	broad.mit.edu	37	4	164271803	164271803	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:164271803G>T	ENST00000515560.1	+	4	1900	c.378G>T	c.(376-378)ttG>ttT	p.L126F	NPY5R_ENST00000506953.1_Missense_Mutation_p.L126F|NPY5R_ENST00000338566.3_Missense_Mutation_p.L126F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	126					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCAGTTTTGGTTTCAACTT	0.358000													13	133					7.93312e-07	9.68207e-07	0.119110	1	0
DDR1	780	broad.mit.edu	37	6	30857061	30857061	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:30857061C>G	ENST00000324771.8	+	6	819	c.271C>G	c.(271-273)Cta>Gta	p.L91V	DDR1_ENST00000376575.3_Missense_Mutation_p.L91V|DDR1_ENST00000376570.4_Missense_Mutation_p.L91V|DDR1_ENST00000454612.2_Missense_Mutation_p.L91V|DDR1_ENST00000376567.2_Missense_Mutation_p.L91V|DDR1_ENST00000513240.1_Missense_Mutation_p.L91V|DDR1_ENST00000446312.1_Missense_Mutation_p.L91V|DDR1_ENST00000376568.3_Missense_Mutation_p.L91V|DDR1_ENST00000452441.1_Missense_Mutation_p.L91V|DDR1_ENST00000418800.2_Missense_Mutation_p.L91V|DDR1_ENST00000376569.3_Missense_Mutation_p.L91V|DDR1_ENST00000508312.1_Missense_Mutation_p.L109V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	91	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCAGGTGGATCTACAACGACT	0.662000													23	175					0	0	0.108266	0	0
LPHN2	23266	broad.mit.edu	37	1	82431763	82431763	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:82431763G>C	ENST00000370728.1	+	14	2672	c.2027G>C	c.(2026-2028)aGt>aCt	p.S676T	LPHN2_ENST00000370725.1_Missense_Mutation_p.S676T|LPHN2_ENST00000370715.1_Missense_Mutation_p.S663T|LPHN2_ENST00000359929.3_Missense_Mutation_p.S663T|LPHN2_ENST00000370717.2_Missense_Mutation_p.S676T|LPHN2_ENST00000370713.1_Missense_Mutation_p.S663T|LPHN2_ENST00000271029.4_Missense_Mutation_p.S676T|LPHN2_ENST00000394879.1_Missense_Mutation_p.S663T|LPHN2_ENST00000370730.1_Missense_Mutation_p.S676T|LPHN2_ENST00000335786.5_Missense_Mutation_p.S676T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.S663T|LPHN2_ENST00000370727.1_Missense_Mutation_p.S676T|LPHN2_ENST00000370723.1_Missense_Mutation_p.S663T|LPHN2_ENST00000370721.1_Missense_Mutation_p.S601T			O95490	LPHN2_HUMAN	latrophilin 2	676					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCCGTACTCAGTACAGAAGGA	0.443000													39	107					0	0	0.139131	0	0
DBNL	28988	broad.mit.edu	37	7	44098501	44098501	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:44098501G>C	ENST00000468694.1	+	9	808	c.781G>C	c.(781-783)Gag>Cag	p.E261Q	DBNL_ENST00000490734.2_Splice_Site_p.E158_splice|DBNL_ENST00000452943.1_Splice_Site_p.E228_splice|DBNL_ENST00000494774.1_Splice_Site_p.E253_splice|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Splice_Site_p.E204_splice|DBNL_ENST00000440166.1_Splice_Site_p.E149_splice|DBNL_ENST00000448521.1_Splice_Site_p.E252_splice	NM_001122956.1	NP_001116428.1	Q9UJU6	DBNL_HUMAN	drebrin-like	252					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTCCCTCCAGGAGTCTGCCGT	0.607000													7	70					0	0	0.278610	0	0
MUC4	4585	broad.mit.edu	37	3	195508133	195508133	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:195508133G>A	ENST00000463781.3	-	2	10777	c.10318C>T	c.(10318-10320)Cct>Tct	p.P3440S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3440S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	209					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.P3440S(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAACAGGGGTGGCGTGA	0.592000													4	11					0	0	0.150653	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486716	20486716	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:20486716G>T	ENST00000573854.1	+	7	1041	c.927G>T	c.(925-927)atG>atT	p.M309I	ACSM2A_ENST00000219054.6_Missense_Mutation_p.M309I|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.M81I|ACSM2A_ENST00000417235.2_Missense_Mutation_p.M230I|ACSM2A_ENST00000396104.2_Missense_Mutation_p.M309I|ACSM2A_ENST00000575690.1_Missense_Mutation_p.M309I	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	309					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGAGTATGATGGGTGCCCCCA	0.512000													11	128					1.15088e-07	1.44628e-07	0.146539	1	0
KIF20A	10112	broad.mit.edu	37	5	137522938	137522938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:137522938C>T	ENST00000394894.3	+	19	2735	c.2509C>T	c.(2509-2511)Cag>Tag	p.Q837*	KIF20A_ENST00000508792.1_Nonsense_Mutation_p.Q819*	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	837	Globular (Potential).				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCAGGAAAATCAGCAACCAAA	0.483000													4	46					0	0	0.184627	0	0
MYO1H	283446	broad.mit.edu	37	12	109835536	109835536	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:109835536G>T	ENST00000310903.5	+	5	547		c.e5-1		MYO1H_ENST00000431443.2_Splice_Site			B4DNW6	B4DNW6_HUMAN	myosin IH							myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGTATTCCAAGGCTTTTGGAA	0.393000													15	27					0.00400662	0.00434521	0.146539	1	0
NARS	4677	broad.mit.edu	37	18	55273958	55273958	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:55273958G>C	ENST00000256854.5	-	10	1482	c.1027C>G	c.(1027-1029)Cct>Gct	p.P343A	NARS_ENST00000423481.2_Missense_Mutation_p.P94A	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase	343					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTCAGGAAAGGACACTCAGCT	0.468000													23	107					0	0	0.108266	0	0
IGSF3	3321	broad.mit.edu	37	1	117156501	117156501	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:117156501C>T	ENST00000369486.3	-	4	1483	c.718G>A	c.(718-720)Gac>Aac	p.D240N	IGSF3_ENST00000318837.6_Missense_Mutation_p.D240N|IGSF3_ENST00000369483.1_Missense_Mutation_p.D240N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	240	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCGCCCTGGTCAGAAGGCTGC	0.627000													4	35					0	0	0.150653	0	0
GRIA2	2891	broad.mit.edu	37	4	158256939	158256939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:158256939C>A	ENST00000296526.7	+	10	1708	c.1383C>A	c.(1381-1383)taC>taA	p.Y461*	GRIA2_ENST00000449365.1_Nonsense_Mutation_p.Y414*|GRIA2_ENST00000264426.9_Nonsense_Mutation_p.Y461*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.Y414*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.Y414*	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	461					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GGTTCAAGTACAAGTTGACAA	0.443000													10	35					7.48243e-07	9.15841e-07	0.058154	1	0
NRG3	10718	broad.mit.edu	37	10	84711246	84711246	+	Missense_Mutation	SNP	G	G	A	rs145937983		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:84711246G>A	ENST00000372142.2	+	6	687	c.413G>A	c.(412-414)aGg>aAg	p.R138K	NRG3_ENST00000556918.1_Missense_Mutation_p.R189K|NRG3_ENST00000545131.1_Missense_Mutation_p.R9K|NRG3_ENST00000404547.1_Missense_Mutation_p.R359K|NRG3_ENST00000537893.1_Missense_Mutation_p.R9K|NRG3_ENST00000404576.2_Missense_Mutation_p.R163K|NRG3_ENST00000372141.2_Missense_Mutation_p.R359K	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	359	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTTTATCAAAGGCAGGTGCTG	0.393000													24	131					0	0	0.125774	0	0
TKTL2	84076	broad.mit.edu	37	4	164393602	164393602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:164393602C>A	ENST00000280605.3	-	1	1445	c.1285G>T	c.(1285-1287)Gga>Tga	p.G429*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	429						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGGAGACTCCATCTTCTCCA	0.473000													5	55					0.0215528	0.0224541	0.217242	1	0
TBC1D15	64786	broad.mit.edu	37	12	72316868	72316868	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:72316868C>G	ENST00000550746.1	+	18	2024	c.1960C>G	c.(1960-1962)Cct>Gct	p.P654A	TBC1D15_ENST00000319106.8_Missense_Mutation_p.P645A|TBC1D15_ENST00000485960.2_Missense_Mutation_p.P637A|TBC1D15_ENST00000393309.3_Missense_Mutation_p.P408A	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	654							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACTCCTTGTCCTACATCTGC	0.483000													11	226					0	0	0.093190	0	0
ZNF846	162993	broad.mit.edu	37	19	9869104	9869104	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:9869104T>A	ENST00000397902.2	-	6	1062	c.649A>T	c.(649-651)Ata>Tta	p.I217L	ZNF846_ENST00000588267.1_Missense_Mutation_p.I88L|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.I88L	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TGAGATCTTATATGTAACTTA	0.368000													17	44					0	0	0.160694	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39414032	39414032	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr22:39414032G>T	ENST00000361441.3	+	3	716	c.436G>T	c.(436-438)Gag>Tag	p.E146*	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	146					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GGTCGCTGTGGAGATCATGGA	0.592000													22	138					4.59853e-10	6.22197e-10	0.108266	1	0
ABCA13	154664	broad.mit.edu	37	7	48452149	48452149	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:48452149G>T	ENST00000435803.1	+	41	12452	c.12428G>T	c.(12427-12429)gGc>gTc	p.G4143V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4143					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACCTGACGGGCTATGGGATC	0.478000													15	90					4.14922e-12	5.89662e-12	0.146539	1	0
NFATC2	4773	broad.mit.edu	37	20	50140414	50140414	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:50140414G>C	ENST00000371564.3	-	2	585	c.366C>G	c.(364-366)atC>atG	p.I122M	NFATC2_ENST00000414705.1_Missense_Mutation_p.I102M|NFATC2_ENST00000396009.3_Missense_Mutation_p.I122M	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	122	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCACTGCCTGGATCAGTTCGT	0.711000													4	73					0	0	0.150653	0	0
CD3E	916	broad.mit.edu	37	11	118182885	118182885	+	Splice_Site	SNP	C	C	T	rs143949187	byFrequency	TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:118182885C>T	ENST00000361763.4	+	5	394	c.103_splice	c.e5+1	p.P35_splice	CD3E_ENST00000528600.1_Intron	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	35	Ig-like.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TACACAGACACGTGAGTTTAT	0.353000													4	128					0	0	0.184627	0	0
PKD1	5310	broad.mit.edu	37	16	2147971	2147971	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:2147971C>A	ENST00000262304.4	-	31	10273	c.10065G>T	c.(10063-10065)ccG>ccT	p.P3355P	PKD1_ENST00000423118.1_Silent_p.P3355P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3355			P -> L (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGTGGGGCTCGGGCTCCCAG	0.667000													4	7					0.00024832	0.000278948	0.150653	1	0
OSBPL2	9885	broad.mit.edu	37	20	60854217	60854217	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:60854217G>C	ENST00000313733.3	+	7	698	c.496G>C	c.(496-498)Gat>Cat	p.D166H	OSBPL2_ENST00000439951.2_Missense_Mutation_p.D74H|OSBPL2_ENST00000358053.2_Missense_Mutation_p.D154H	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	166					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ACCTAGGGAAGATTTAGGATT	0.478000													8	91					0	0	0.058154	0	0
ELP3	55140	broad.mit.edu	37	8	27967935	27967935	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:27967935A>T	ENST00000256398.8	+	6	819	c.442A>T	c.(442-444)Aca>Tca	p.T148S	ELP3_ENST00000380353.4_Missense_Mutation_p.T56S|ELP3_ENST00000521015.1_Missense_Mutation_p.T134S|ELP3_ENST00000542181.1_Missense_Mutation_p.T19S|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000537665.1_Missense_Mutation_p.T29S|ELP3_ENST00000524103.1_Missense_Mutation_p.T76S	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	148					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTTCCTACAGACAAGACACCG	0.338000													15	106					0	0	0.175082	0	0
ADAM7	8756	broad.mit.edu	37	8	24365023	24365023	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:24365023G>C	ENST00000175238.6	+	21	2322	c.2239G>C	c.(2239-2241)Gca>Cca	p.A747P	RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Intron|ADAM7_ENST00000380789.1_Missense_Mutation_p.A769P|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	747					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGAGGAATCGCAGATCCCAA	0.388000													8	73					0	0	0.069234	0	0
DLC1	10395	broad.mit.edu	37	8	12957116	12957116	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:12957116G>C	ENST00000276297.4	-	9	3139	c.2730C>G	c.(2728-2730)ctC>ctG	p.L910L	DLC1_ENST00000512044.2_Silent_p.L507L|DLC1_ENST00000520226.1_Silent_p.L399L|DLC1_ENST00000358919.2_Silent_p.L473L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	910					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCACGTGGTAGAGGATGTCGT	0.582000													7	55					0	0	0.278610	0	0
UBN2	254048	broad.mit.edu	37	7	138921821	138921821	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:138921821C>T	ENST00000288561.8	+	2	539	c.290C>T	c.(289-291)gCt>gTt	p.A97V	UBN2_ENST00000473989.2_Missense_Mutation_p.A180V	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	180	Pro-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAAATGTTGGCTAAGAAGTTT	0.393000													19	147					0	0	0.108266	0	0
OR51T1	401665	broad.mit.edu	37	11	4903240	4903240	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:4903240C>T	ENST00000380378.1	+	1	192	c.192C>T	c.(190-192)taC>taT	p.Y64Y	OR51T1_ENST00000322049.1_Silent_p.Y37Y|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGTCTCTACACCATTGCCC	0.473000													11	177					0	0	0.080935	0	0
LRP2	4036	broad.mit.edu	37	2	170062993	170062993	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:170062993G>T	ENST00000263816.3	-	39	7522	c.7237C>A	c.(7237-7239)Caa>Aaa	p.Q2413K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2413					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTATTGTTTGGAAAGGTGGG	0.388000													16	71					8.34094e-07	1.01651e-06	0.204396	1	0
SURF1	6834	broad.mit.edu	37	9	136220611	136220611	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:136220611C>T	ENST00000371974.3	-	5	539	c.508G>A	c.(508-510)Gac>Aac	p.D170N	SURF1_ENST00000495952.1_5'UTR	NM_003172.2	NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	170					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		CACCCCAGGTCGGTGCAGTGG	0.592000													24	241					0	0	0.116897	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033628	26033628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:26033628C>A	ENST00000259791.2	-	1	168	c.169G>T	c.(169-171)Gag>Tag	p.E57*		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	57					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GTCAGGTACTCAAGCACCGCC	0.657000													9	54					0.000442599	0.00049522	0.058154	1	0
TFDP2	7029	broad.mit.edu	37	3	141692892	141692892	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:141692892C>G	ENST00000499676.2	-	8	1152	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	TFDP2_ENST00000310282.6_Missense_Mutation_p.E161Q|TFDP2_ENST00000467072.1_Missense_Mutation_p.E161Q|TFDP2_ENST00000495310.1_Missense_Mutation_p.E124Q|TFDP2_ENST00000489671.1_Missense_Mutation_p.E221Q|TFDP2_ENST00000486111.1_Missense_Mutation_p.E161Q|TFDP2_ENST00000397991.4_Missense_Mutation_p.E193Q|TFDP2_ENST00000479040.1_Missense_Mutation_p.E160Q|TFDP2_ENST00000477292.1_Missense_Mutation_p.E85Q|TFDP2_ENST00000317104.7_Missense_Mutation_p.E145Q	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	221					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						TCACTTACCTCCAGATTCTGA	0.299000													14	136					0	0	0.204396	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617854	37617854	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr21:37617854C>G	ENST00000399151.3	+	19	3661	c.3576C>G	c.(3574-3576)ttC>ttG	p.F1192L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1192					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGAGTCGTTCTCCAGCGACG	0.632000													9	33					0	0	0.069234	0	0
PUS7	54517	broad.mit.edu	37	7	105148701	105148701	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:105148701C>A	ENST00000356362.2	-	2	473	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	PUS7_ENST00000469408.1_Missense_Mutation_p.D87Y	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	87					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GAAAGTCCATCTTCCTCCTCT	0.502000													28	210					1.42033e-22	2.21144e-22	0.203993	1	0
SLIT2	9353	broad.mit.edu	37	4	20591316	20591316	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:20591316C>A	ENST00000504154.1	+	30	3390	c.3138C>A	c.(3136-3138)ccC>ccA	p.P1046P	SLIT2_ENST00000503823.1_Silent_p.P1038P|SLIT2_ENST00000273739.5_Silent_p.P1059P|SLIT2_ENST00000503837.1_Silent_p.P1042P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1046	EGF-like 4.				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						ACCTGAACCCCTGCCAGCACG	0.483000													5	50					0.00198382	0.00216254	0.248553	1	0
ZNF532	55205	broad.mit.edu	37	18	56646328	56646328	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:56646328C>T	ENST00000336078.4	+	9	3968	c.3192C>T	c.(3190-3192)ttC>ttT	p.F1064F	ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591230.1_Silent_p.F1064F|ZNF532_ENST00000591083.1_Silent_p.F1064F|ZNF532_ENST00000591808.1_Silent_p.F1064F|ZNF532_ENST00000589288.1_Silent_p.F1064F	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1064					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ACAAGTCTTTCAGCTCGTCCC	0.493000													10	166					0	0	0.105934	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472642	47472642	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:47472642G>A	ENST00000266581.4	-	2	610	c.144C>T	c.(142-144)gcC>gcT	p.A48A	AMIGO2_ENST00000550413.1_Silent_p.A48A|AMIGO2_ENST00000429635.1_Silent_p.A48A|AMIGO2_ENST00000321382.3_Silent_p.A48A	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	48	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					CGATGTCAGTGGCACAGATGC	0.552000													12	74					0	0	0.105934	0	0
SCRN2	90507	broad.mit.edu	37	17	45915651	45915651	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:45915651C>T	ENST00000407215.3	-	7	1185	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	SCRN2_ENST00000584123.1_Silent_p.L376L|SCRN2_ENST00000290216.9_Silent_p.L368L			Q96FV2	SCRN2_HUMAN	secernin 2	368					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CTCTCTCCATCAGCCCCAGGG	0.577000													11	96					0	0	0.093190	0	0
EDNRA	1909	broad.mit.edu	37	4	148457038	148457038	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:148457038G>T	ENST00000324300.5	+	5	1272	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000511804.1_Missense_Mutation_p.D28Y|EDNRA_ENST00000358556.4_Missense_Mutation_p.D144Y|EDNRA_ENST00000506066.1_Missense_Mutation_p.D144Y|EDNRA_ENST00000503721.1_3'UTR	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	253					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GTTCTACCAAGATGTAAAGGA	0.418000													16	129					1.90627e-21	2.95175e-21	0.234183	1	0
DSG1	1828	broad.mit.edu	37	18	28923479	28923479	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:28923479C>T	ENST00000257192.4	+	12	1966	c.1754C>T	c.(1753-1755)cCt>cTt	p.P585L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	585					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGCTTTGAGCCTGTTCCCGAA	0.488000													14	92					0	0	0.119110	0	0
ZNF24	7572	broad.mit.edu	37	18	32917601	32917601	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:32917601G>A	ENST00000261332.6	-	4	881	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Silent_p.F234F	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	234					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGCCCTTGGGGAAACAGGTTT	0.423000													12	71					0	0	0.105934	0	0
ADCY2	108	broad.mit.edu	37	5	7707859	7707859	+	Missense_Mutation	SNP	G	G	A	rs142609557		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:7707859G>A	ENST00000338316.4	+	9	1398	c.1309G>A	c.(1309-1311)Ggc>Agc	p.G437S	ADCY2_ENST00000537121.1_Missense_Mutation_p.G257S	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	437					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCACTTGAATGGCGCTTATAA	0.408000													11	84					0	0	0.093190	0	0
AKAP9	10142	broad.mit.edu	37	7	91624064	91624064	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:91624064C>G	ENST00000359028.2	+	7	967	c.742C>G	c.(742-744)Caa>Gaa	p.Q248E	AKAP9_ENST00000394564.1_Missense_Mutation_p.Q236E|AKAP9_ENST00000358100.2_Missense_Mutation_p.Q248E|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q236E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	248	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAACAGAGTCAAAAATTACA	0.289000			T	BRAF	papillary thyroid								7	92					0	0	0.058154	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883483	228883483	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:228883483C>G	ENST00000392056.3	-	7	2133	c.2087G>C	c.(2086-2088)aGg>aCg	p.R696T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R696T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	696						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGATGAATGCCTGTTGTCATT	0.398000													47	251					0	0	0.139131	0	0
VPS8	23355	broad.mit.edu	37	3	184580772	184580772	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:184580772G>T	ENST00000287546.4	+	15	1483	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	VPS8_ENST00000436792.2_Missense_Mutation_p.V436L|VPS8_ENST00000446204.2_Missense_Mutation_p.V436L|VPS8_ENST00000437079.3_Missense_Mutation_p.V438L	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	438							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATTGGAGACAGTGGAGATCTC	0.438000													29	143					9.78485e-24	1.52629e-23	0.173368	1	0
DNAH14	127602	broad.mit.edu	37	1	225147981	225147981	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:225147981G>T	ENST00000430092.1	+	4	559	c.344G>T	c.(343-345)aGg>aTg	p.R115M	DNAH14_ENST00000366850.3_Missense_Mutation_p.R115M|DNAH14_ENST00000439375.2_Missense_Mutation_p.R115M|DNAH14_ENST00000498360.1_3'UTR|DNAH14_ENST00000400952.3_Missense_Mutation_p.R115M|DNAH14_ENST00000366849.1_Missense_Mutation_p.R115M|DNAH14_ENST00000366848.1_Missense_Mutation_p.R115M	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	249					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGGAAAGCCAGGCCTGTGTCC	0.398000													7	92					7.48243e-07	9.15841e-07	0.058154	1	0
PCLO	27445	broad.mit.edu	37	7	82595455	82595455	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:82595455C>G	ENST00000423517.2	-	4	3986	c.3649G>C	c.(3649-3651)Gaa>Caa	p.E1217Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E1217Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1156					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTTTTTTTCTTCAGGGAGT	0.373000													5	80					0	0	0.217242	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235652544	235652544	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:235652544T>C	ENST00000366600.3	-	3	518	c.290A>G	c.(289-291)cAt>cGt	p.H97R	B3GALNT2_ENST00000313984.3_Missense_Mutation_p.H138R|B3GALNT2_ENST00000478199.1_Intron	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	97					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TTCACAGCCATGAGCACCTAT	0.443000													10	121					0	0	0.132662	0	0
KMT2A	4297	broad.mit.edu	37	11	118362500	118362500	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:118362500G>T	ENST00000534358.1	+	15	4884	c.4861G>T	c.(4861-4863)Gcc>Tcc	p.A1621S	KMT2A_ENST00000389506.5_Missense_Mutation_p.A1618S|KMT2A_ENST00000354520.4_Missense_Mutation_p.A1580S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGAAAGTGTGGCCTACACTTG	0.453000													10	101					3.07112e-06	3.6897e-06	0.080935	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797137	1797137	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:1797137C>T	ENST00000250894.4	+	6	1009	c.852C>T	c.(850-852)gcC>gcT	p.A284A	MAPK8IP3_ENST00000356010.5_Silent_p.A284A|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	284					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCTCGGCCGCCGTCACACCCC	0.667000													10	68					0	0	0.093190	0	0
TMED4	222068	broad.mit.edu	37	7	44619123	44619123	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:44619123C>G	ENST00000457408.2	-	5	691	c.639G>C	c.(637-639)caG>caC	p.Q213H	TMED4_ENST00000289577.5_Missense_Mutation_p.Q164H	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	213					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGTGACGCATCTGCCAGATGC	0.517000													7	55					0	0	0.278610	0	0
MYH8	4626	broad.mit.edu	37	17	10319003	10319003	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:10319003C>T	ENST00000403437.2	-	6	628	c.534G>A	c.(532-534)ctG>ctA	p.L178L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	178	Myosin head-like.				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						CATACGTGATCAGGATGGACT	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				3	17					0	0	0.150653	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456114	30456114	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:30456114T>C	ENST00000478753.2	-	1	1388	c.935A>G	c.(934-936)cAt>cGt	p.H312R	SEPHS2_ENST00000542752.1_Missense_Mutation_p.H255R|SEPHS2_ENST00000500504.2_Missense_Mutation_p.H312R			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	312					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TGTGGCCGCATGGGCATTAAA	0.458000													14	100					0	0	0.189662	0	0
CELSR1	9620	broad.mit.edu	37	22	46807526	46807526	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr22:46807526G>C	ENST00000262738.3	-	6	4741	c.4742C>G	c.(4741-4743)gCc>gGc	p.A1581G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1581	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGTGCCCTGGGCAGCGCAGCT	0.632000													8	37					0	0	0.080935	0	0
KDM5C	8242	broad.mit.edu	37	X	53225896	53225896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:53225896C>A	ENST00000452825.3	-	17	3284	c.2752G>T	c.(2752-2754)Gag>Tag	p.E918*	KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E984*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E985*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E944*|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.E985*	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	985					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGGGCTTTCTCCTCCCAGCGT	0.592000			"""N, F, S"""		clear cell renal carcinoma								18	53					8.10497e-08	1.03387e-07	0.219247	1	0
ERN2	10595	broad.mit.edu	37	16	23713998	23713998	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:23713998C>T	ENST00000256797.4	-	9	1192	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	ERN2_ENST00000457008.2_Missense_Mutation_p.E294K	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	294					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AAGCCAGTTTCATCCTTCCCC	0.478000													7	68					0	0	0.047766	0	0
UIMC1	51720	broad.mit.edu	37	5	176338368	176338368	+	Silent	SNP	C	C	T	rs149513554		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:176338368C>T	ENST00000377219.2	-	11	1789	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	UIMC1_ENST00000377227.4_Silent_p.E540E|UIMC1_ENST00000511320.1_Silent_p.E540E|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000506128.1_Silent_p.E374E	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	540	Zinc-finger-like region.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCTTGGCCTCTTTTTGTC	0.383000													18	80					0	0	0.189662	0	0
PTPN14	5784	broad.mit.edu	37	1	214549599	214549599	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:214549599T>A	ENST00000366956.5	-	15	3064	c.2870A>T	c.(2869-2871)gAa>gTa	p.E957V	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	957	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTGTTATTTTCTTTGGTTGG	0.473000													9	45					0	0	0.093190	0	0
PSG8	440533	broad.mit.edu	37	19	43268068	43268068	+	Splice_Site	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:43268068G>A	ENST00000404209.4	-	2	526	c.430_splice	c.e2+1	p.L144_splice	PSG8_ENST00000401467.2_Splice_Site_p.P144_splice|PSG8_ENST00000306511.4_Splice_Site_p.L144_splice|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	144	Ig-like V-type.					extracellular region		p.L144L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATCACTCACGATATAAGGTG	0.498000													36	298					0	0	0.279185	0	0
DUSP21	63904	broad.mit.edu	37	X	44703841	44703841	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:44703841A>T	ENST00000339042.4	+	1	593	c.463A>T	c.(463-465)Aat>Tat	p.N155Y		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	155	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						ACAGCTCATCAATTACGAATT	0.502000													8	46					0	0	0.047766	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187276	140187276	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140187276C>T	ENST00000530339.1	+	1	504	c.504C>T	c.(502-504)ctC>ctT	p.L168L	PCDHA4_ENST00000512229.2_Silent_p.L168L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.L168L	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCCCTGCTCACTTACAGAC	0.493000													9	81					0	0	0.093190	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744400	37744400	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:37744400T>A	ENST00000539465.1	+	16	2964	c.2371T>A	c.(2371-2373)Tct>Act	p.S791T	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S791T			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	791						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CAGAGATGTTTCTACTGCAGA	0.498000													21	126					0	0	0.294199	0	0
VAV1	7409	broad.mit.edu	37	19	6828129	6828129	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:6828129G>T	ENST00000304076.2	+	10	1064	c.970G>T	c.(970-972)Gac>Tac	p.D324Y	VAV1_ENST00000602142.1_Missense_Mutation_p.D324Y|VAV1_ENST00000596764.1_Missense_Mutation_p.D292Y|VAV1_ENST00000599806.1_Missense_Mutation_p.D269Y|VAV1_ENST00000539284.1_Missense_Mutation_p.D227Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	324	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCCTGCGGGACCTGCTGAT	0.557000													19	80					3.01185e-09	3.96124e-09	0.294199	1	0
DCHS1	8642	broad.mit.edu	37	11	6662464	6662464	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:6662464T>C	ENST00000299441.3	-	2	792	c.381A>G	c.(379-381)gtA>gtG	p.V127V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	127	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTAACTTCTACGGTGGCAC	0.602000													18	54					0	0	0.204396	0	0
FBXO40	51725	broad.mit.edu	37	3	121340549	121340549	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:121340549C>G	ENST00000338040.4	+	3	687	c.273C>G	c.(271-273)agC>agG	p.S91R		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	91					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCCCCGCCAGCGTGGTCTGCT	0.572000													9	66					0	0	0.093190	0	0
TTC8	123016	broad.mit.edu	37	14	89336466	89336466	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:89336466C>A	ENST00000338104.6	+	11	1073	c.1021C>A	c.(1021-1023)Cat>Aat	p.H341N	TTC8_ENST00000536576.1_Missense_Mutation_p.H86N|TTC8_ENST00000345383.5_Missense_Mutation_p.H315N|TTC8_ENST00000354441.6_Missense_Mutation_p.H60N|TTC8_ENST00000358622.5_Missense_Mutation_p.H127N|TTC8_ENST00000380656.2_Missense_Mutation_p.H325N|TTC8_ENST00000346301.4_Missense_Mutation_p.H285N			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	351					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGACAATACTCATGTGGAAGC	0.378000													23	124					2.39556e-15	3.53492e-15	0.264190	1	0
GLG1	2734	broad.mit.edu	37	16	74525040	74525040	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:74525040C>G	ENST00000422840.2	-	8	1307	c.1308G>C	c.(1306-1308)ctG>ctC	p.L436L	GLG1_ENST00000205061.5_Silent_p.L436L|GLG1_ENST00000447066.2_Silent_p.L425L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	436						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTCAGGGCTCAGAGAAAAGT	0.488000													23	137					0	0	0.134883	0	0
PARP6	56965	broad.mit.edu	37	15	72552002	72552002	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:72552002C>A	ENST00000569795.1	-	11	1444	c.756_splice	c.e11-1	p.V253_splice	PARP6_ENST00000260376.7_Splice_Site_p.V253_splice|PARP6_ENST00000287196.9_Splice_Site_p.V253_splice|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	253							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TGACCACTGACCTGGTGAGAG	0.498000													38	178					5.20006e-24	8.12629e-24	0.301197	1	0
PHEX	5251	broad.mit.edu	37	X	22196464	22196464	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:22196464C>G	ENST00000379374.4	+	14	2122	c.1557C>G	c.(1555-1557)ttC>ttG	p.F519L	PHEX_ENST00000537599.1_Missense_Mutation_p.F519L|PHEX_ENST00000535894.1_Missense_Mutation_p.F422L|PHEX_ENST00000418858.3_Missense_Mutation_p.F222L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	519					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTGATTTCTTCTGGCTAAGAA	0.353000													4	39					0	0	0.150653	0	0
SLC52A3	113278	broad.mit.edu	37	20	745941	745941	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:745941C>A	ENST00000381944.3	-	2	719	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.G160C			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	160					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										AGACCGGAGCCCTGGGCAAGA	0.602000													16	73					2.4624e-09	3.24868e-09	0.204396	1	0
SOX7	83595	broad.mit.edu	37	8	10583683	10583683	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:10583683C>A	ENST00000304501.1	-	2	810	c.732G>T	c.(730-732)ccG>ccT	p.P244P	SOX7_ENST00000554914.1_Silent_p.P296P|SOX7_ENST00000553390.1_Silent_p.P296P	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	244					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGCGTACTCCGGTGAGTACG	0.692000													8	49					2.52707e-12	3.60341e-12	0.058154	1	0
SEC14L3	266629	broad.mit.edu	37	22	30856095	30856095	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr22:30856095G>T	ENST00000215812.4	-	12	1206	c.1116C>A	c.(1114-1116)gtC>gtA	p.V372V	SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000539629.1_Silent_p.V313V|SEC14L3_ENST00000402286.1_Silent_p.V295V|SEC14L3_ENST00000540910.1_Silent_p.V295V|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000401751.1_Silent_p.V313V	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	372	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTTGGCGTGGACAAAGCTAT	0.542000													18	98					2.4624e-09	3.24868e-09	0.204396	1	0
TPR	7175	broad.mit.edu	37	1	186294923	186294923	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:186294923G>A	ENST00000367478.3	-	42	6381	c.6085C>T	c.(6085-6087)Cac>Tac	p.H2029Y		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2029					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAGCTCTGTGATTACCTTCA	0.358000			T	NTRK1	papillary thyroid								10	162					0	0	0.119110	0	0
PTPRU	10076	broad.mit.edu	37	1	29581918	29581918	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:29581918G>T	ENST00000323874.8	+	2	315	c.205_splice	c.e2+1	p.G69_splice	PTPRU_ENST00000460170.2_Splice_Site_p.G69_splice|PTPRU_ENST00000428026.2_Splice_Site_p.G69_splice|PTPRU_ENST00000345512.3_Splice_Site_p.G69_splice|PTPRU_ENST00000373779.3_Splice_Site_p.G69_splice|PTPRU_ENST00000356870.3_Splice_Site_p.G69_splice			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	69	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCCCACGGTAAGTCTAC	0.592000													13	133					4.75885e-15	6.99782e-15	0.160694	1	0
DMXL1	1657	broad.mit.edu	37	5	118469711	118469711	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:118469711C>T	ENST00000311085.8	+	12	2172	c.2092C>T	c.(2092-2094)Ccc>Tcc	p.P698S	DMXL1_ENST00000539542.1_Missense_Mutation_p.P698S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	698										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTTCAGGATCCCAGTGCAGT	0.428000													10	132					0	0	0.132662	0	0
RGS14	10636	broad.mit.edu	37	5	176792980	176792980	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:176792980A>G	ENST00000408923.3	+	2	250	c.62A>G	c.(61-63)gAt>gGt	p.D21G		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	21					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGTGTCAGATGGAGGTAAG	0.577000													25	172					0	0	0.153744	0	0
TDRD7	23424	broad.mit.edu	37	9	100194383	100194383	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:100194383G>C	ENST00000355295.4	+	4	721	c.426G>C	c.(424-426)ccG>ccC	p.P142P	TDRD7_ENST00000422139.2_Silent_p.P68P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	142					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATCCAGCACCGTTAAGAGACA	0.393000													19	96					0	0	0.249174	0	0
NOD1	10392	broad.mit.edu	37	7	30492289	30492289	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:30492289C>A	ENST00000423334.2	-	7	1049	c.608G>T	c.(607-609)tGt>tTt	p.C203F	NOD1_ENST00000222823.4_Silent_p.L248L			Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	0	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CCTGCAGACACAGCCTGTCAC	0.602000													12	110					3.27435e-08	4.23416e-08	0.119110	1	0
OR52E8	390079	broad.mit.edu	37	11	5878349	5878349	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:5878349C>G	ENST00000537935.1	-	1	615	c.584G>C	c.(583-585)tGt>tCt	p.C195S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGCTGGCACAGGCCAGACG	0.468000													7	102					0	0	0.058154	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73184361	73184361	+	Silent	SNP	A	A	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:73184361A>C	ENST00000286657.4	-	10	1449	c.1413T>G	c.(1411-1413)ctT>ctG	p.L471L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	471	Disintegrin.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATTCCAGGAAGTTCTGGGA	0.383000													4	47					0	0	0.184627	0	0
LRRC7	57554	broad.mit.edu	37	1	70504742	70504742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:70504742G>T	ENST00000310961.5	+	22	3554	c.3136G>T	c.(3136-3138)Gaa>Taa	p.E1046*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.E1041*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.E325*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1041						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGATCAGTGGAAGTGAAAGC	0.448000													7	50					1.06961e-07	1.34615e-07	0.278610	1	0
IARS2	55699	broad.mit.edu	37	1	220275470	220275470	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:220275470G>T	ENST00000366922.1	+	4	665		c.e4-1		IARS2_ENST00000302637.5_Splice_Site			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial						isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTTTTTTTTAGCTAGATCATT	0.318000													4	55					0.00024832	0.000278948	0.150653	1	0
SLC38A10	124565	broad.mit.edu	37	17	79244763	79244763	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:79244763C>A	ENST00000374759.3	-	10	1469	c.1086G>T	c.(1084-1086)ccG>ccT	p.P362P	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Silent_p.P362P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	362					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGATCAGCGCCGGGCAGATGA	0.597000													12	47					0.0202918	0.0212976	0.119110	1	0
MKRN3	7681	broad.mit.edu	37	15	23811410	23811410	+	Missense_Mutation	SNP	C	C	A	rs146108146		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:23811410C>A	ENST00000314520.3	+	1	957	c.481C>A	c.(481-483)Ccg>Acg	p.P161T	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	161						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAAGCCCCCCCGGCTGCATC	0.647000													6	37					0.000673444	0.000746606	0.069234	1	0
PDYN	5173	broad.mit.edu	37	20	1961114	1961114	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:1961114T>C	ENST00000217305.2	-	4	845	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	PDYN_ENST00000540134.1_Missense_Mutation_p.Y207C|PDYN_ENST00000539905.1_Missense_Mutation_p.Y207C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	207					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAAGCCCCCATAGCGTTTGTA	0.597000													25	156					0	0	0.108266	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368911	86368911	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:86368911T>C	ENST00000400286.2	-	2	2331	c.1733A>G	c.(1732-1734)cAg>cGg	p.Q578R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	578						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTAACTAGTCTGTGTTGGCAT	0.438000													15	81					0	0	0.175082	0	0
IFT52	51098	broad.mit.edu	37	20	42265891	42265891	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:42265891A>T	ENST00000373030.3	+	12	1248	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M	IFT52_ENST00000373039.4_Missense_Mutation_p.K373M	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	373						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATTACCAATAAGTGTAAGTTT	0.488000													13	53					0	0	0.119110	0	0
PCK1	5105	broad.mit.edu	37	20	56137241	56137241	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:56137241C>A	ENST00000319441.4	+	3	503	c.339C>A	c.(337-339)ctC>ctA	p.L113L	PCK1_ENST00000535860.1_Intron|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	113					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCAGCCAGCTCGGTCGCTGGA	0.527000													8	57					3.86212e-05	4.43856e-05	0.069234	1	0
MAGEA10	4109	broad.mit.edu	37	X	151304086	151304086	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:151304086G>T	ENST00000370323.4	-	4	323	c.7C>A	c.(7-9)Cga>Aga	p.R3R	MAGEA10_ENST00000244096.3_Silent_p.R3R|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	3										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGGAGCTCGAGGCATGATG	0.612000													25	79					2.4375e-19	3.74693e-19	0.125774	1	0
EPHA6	285220	broad.mit.edu	37	3	97202815	97202815	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:97202815T>C	ENST00000389672.5	+	10	2150	c.2112T>C	c.(2110-2112)gaT>gaC	p.D704D	EPHA6_ENST00000502694.1_Silent_p.D96D|EPHA6_ENST00000514100.1_Silent_p.D96D|EPHA6_ENST00000442602.2_Silent_p.D70D	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	609	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGATCCAGATACATATGAAG	0.393000													6	41					0	0	0.217242	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			9	17					7.48243e-07	9.15841e-07	0.058154	1	0
ZFYVE21	79038	broad.mit.edu	37	14	104195304	104195304	+	Missense_Mutation	SNP	C	C	G	rs144481424		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:104195304C>G	ENST00000216602.6	+	4	530	c.418C>G	c.(418-420)Ctt>Gtt	p.L140V	ZFYVE21_ENST00000311141.2_Missense_Mutation_p.L140V	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	140						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		GACTTGTCGTCTTTCCAATAA	0.537000													6	65					0	0	0.047766	0	0
PPM1G	5496	broad.mit.edu	37	2	27606278	27606278	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:27606278T>C	ENST00000344034.4	-	7	1420	c.1156A>G	c.(1156-1158)Atg>Gtg	p.M386V	PPM1G_ENST00000350803.4_Missense_Mutation_p.M386V	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	386					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CGCCCATCCATGGTGACCTTG	0.512000													25	173					0	0	0.116897	0	0
LRRC7	57554	broad.mit.edu	37	1	70504555	70504555	+	Silent	SNP	C	C	T	rs138318831		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:70504555C>T	ENST00000310961.5	+	22	3367	c.2949C>T	c.(2947-2949)caC>caT	p.H983H	LRRC7_ENST00000035383.5_Silent_p.H978H|LRRC7_ENST00000415775.2_Silent_p.H262H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	978						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAGGAAGCCACGAACGACCGG	0.448000													4	90					0	0	0.184627	0	0
MYT1	4661	broad.mit.edu	37	20	62837070	62837070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:62837070C>A	ENST00000536311.1	+	6	678	c.314C>A	c.(313-315)tCg>tAg	p.S105*	MYT1_ENST00000328439.1_Nonsense_Mutation_p.S105*|MYT1_ENST00000360149.4_Nonsense_Mutation_p.S105*			Q01538	MYT1_HUMAN	myelin transcription factor 1	105					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCTCTGTTTCGGATGAATCG	0.587000													4	41					0.150653	0.153554	0.150653	1	0
ZNF285	26974	broad.mit.edu	37	19	44890898	44890898	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:44890898T>A	ENST00000330997.4	-	4	1573	c.1509A>T	c.(1507-1509)caA>caT	p.Q503H	ZNF285_ENST00000544719.2_Missense_Mutation_p.Q503H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.Q510H	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTGATCTCTTTGATGTAAGT	0.388000													10	94					0	0	0.080935	0	0
MLYCD	23417	broad.mit.edu	37	16	83941750	83941750	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:83941750G>T	ENST00000262430.4	+	3	680	c.661G>T	c.(661-663)Gta>Tta	p.V221L	RP11-505K9.4_ENST00000561562.1_RNA	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	221					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGTGCATCCTGTAAAAAACTG	0.498000													4	49					0.150653	0.153554	0.150653	1	0
BRINP3	339479	broad.mit.edu	37	1	190067434	190067434	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:190067434C>G	ENST00000367462.3	-	8	2246	c.2015G>C	c.(2014-2016)aGc>aCc	p.S672T	FAM5C_ENST00000534846.1_Missense_Mutation_p.S570T|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		672						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAGTGCATGCTGTAGCCAAA	0.443000													8	131					0	0	0.058154	0	0
OR10T2	128360	broad.mit.edu	37	1	158368648	158368648	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:158368648G>A	ENST00000334438.1	-	1	608	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAGGATGCTGAGGCTAAATA	0.463000													4	26					0	0	0.184627	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612890	228612890	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:228612890G>T	ENST00000366696.1	-	1	136	c.137C>A	c.(136-138)aCg>aAg	p.T46K		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	46					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				AAGCGCCACCGTGCCGGGCCG	0.667000													14	111					0.00316338	0.00343511	0.132662	1	0
SNORD113-6	767566	broad.mit.edu	37	14	101405898	101405898	+	RNA	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:101405898C>T	ENST00000363345.2	+	0	6					NR_003234.1																						CATCATGGACCAGTGATGAAT	0.343000													4	40					0	0	0.217242	0	0
ZP4	57829	broad.mit.edu	37	1	238049092	238049092	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:238049092G>T	ENST00000366570.4	-	7	1092	c.934C>A	c.(934-936)Cct>Act	p.P312T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	312	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGGTCCAGGCTGGGTCTCA	0.522000													9	53					2.74318e-10	3.72949e-10	0.058154	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138113	126138113	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:126138113A>T	ENST00000299308.3	+	9	2102	c.2094A>T	c.(2092-2094)gaA>gaT	p.E698D	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E210D	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	698						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCCTCAGGAAGCAATAGTAA	0.313000													26	85					0	0	0.116897	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874841	80874841	+	Silent	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:80874841T>A	ENST00000466387.1	+	22	3286	c.2562T>A	c.(2560-2562)ccT>ccA	p.P854P	CTNNA2_ENST00000541047.1_Silent_p.P854P|CTNNA2_ENST00000361291.4_Silent_p.P888P|CTNNA2_ENST00000540488.1_Silent_p.P809P|CTNNA2_ENST00000496558.1_Silent_p.P854P|CTNNA2_ENST00000343114.3_Silent_p.P533P|CTNNA2_ENST00000402739.4_Silent_p.P902P			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	902					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCAACTCACCTGTTGTGTCTT	0.478000													12	183					0	0	0.093190	0	0
NRSN1	140767	broad.mit.edu	37	6	24134624	24134624	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:24134624C>G	ENST00000378491.4	+	3	370	c.69C>G	c.(67-69)cgC>cgG	p.R23R	NRSN1_ENST00000378475.1_Silent_p.R23R|NRSN1_ENST00000378478.1_Silent_p.R23R	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	23					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						GTTACCAGCGCTATGGAGTCC	0.522000													4	70					0	0	0.184627	0	0
CD97	976	broad.mit.edu	37	19	14501735	14501735	+	Splice_Site	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:14501735G>C	ENST00000242786.5	+	4	270		c.e4-1		CD97_ENST00000358600.3_Splice_Site|CD97_ENST00000357355.3_Splice_Site|CD97_ENST00000587728.1_Splice_Site	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule						cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTGTGTTCCAGACATCAACGA	0.557000													5	26					0	0	0.184627	0	0
EGFL6	25975	broad.mit.edu	37	X	13636054	13636054	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:13636054T>C	ENST00000361306.1	+	8	1241	c.984T>C	c.(982-984)tcT>tcC	p.S328S	EGFL6_ENST00000380602.3_Silent_p.S328S	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	328					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GCGGGAACTCTCATGGAGGTA	0.453000													13	32					0	0	0.119110	0	0
WDR90	197335	broad.mit.edu	37	16	716515	716515	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:716515G>T	ENST00000549091.1	+	38	4899	c.4807G>T	c.(4807-4809)Gtc>Ttc	p.V1603F	WDR90_ENST00000293879.4_Missense_Mutation_p.V1601F|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547944.1_Missense_Mutation_p.V200F	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1601										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGACCAGCGGGTCAGCGTCTG	0.622000													5	43					5.9392e-07	7.31178e-07	0.217242	1	0
MCC	4163	broad.mit.edu	37	5	112389607	112389607	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:112389607C>T	ENST00000302475.4	-	13	2256	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.D755N|MCC_ENST00000515367.2_Missense_Mutation_p.D502N	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	565					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CTCTGCTCGTCTTCTTTAGTG	0.498000													24	129					0	0	0.134883	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798720	55798720	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:55798720G>C	ENST00000313555.1	+	1	826	c.826G>C	c.(826-828)Gtg>Ctg	p.V276L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGTGGTGGCAGTGTTTTATAC	0.383000													5	45					0	0	0.184627	0	0
ALG13	79868	broad.mit.edu	37	X	110978350	110978350	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:110978350G>T	ENST00000394780.3	+	22	2541	c.2529_splice	c.e22+1	p.K843_splice	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Splice_Site_p.K739_splice	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	843					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ACCCCCAGAAGGTAATCCTCA	0.348000													20	30					3.69857e-22	5.74805e-22	0.134883	1	0
OR51V1	283111	broad.mit.edu	37	11	5221385	5221385	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:5221385G>A	ENST00000321255.1	-	1	545	c.546C>T	c.(544-546)atC>atT	p.I182I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGAGAAAGGATGTGGAAAT	0.393000													18	70					0	0	0.204396	0	0
RAE1	8480	broad.mit.edu	37	20	55948792	55948792	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:55948792G>T	ENST00000395841.2	+	10	1243	c.823G>T	c.(823-825)Gcg>Tcg	p.A275S	RAE1_ENST00000371242.2_Missense_Mutation_p.A275S|RAE1_ENST00000395840.2_Missense_Mutation_p.A275S|RAE1_ENST00000527947.1_Missense_Mutation_p.A275S	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	275					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGACATTTATGCGGTACGTTT	0.418000													36	180					5.69309e-43	9.04699e-43	0.139131	1	0
FARSA	2193	broad.mit.edu	37	19	13034991	13034991	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:13034991G>A	ENST00000588025.1	-	13	1622	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	FARSA_ENST00000314606.4_Silent_p.V454V|FARSA_ENST00000423140.2_Silent_p.V423V			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	454					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCCAGGCAATGACCGACACGT	0.612000													14	99					0	0	0.146539	0	0
TRERF1	55809	broad.mit.edu	37	6	42236986	42236986	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:42236986C>T	ENST00000541110.1	-	5	911	c.343G>A	c.(343-345)Gag>Aag	p.E115K	TRERF1_ENST00000372922.4_Missense_Mutation_p.E115K|TRERF1_ENST00000340840.2_Missense_Mutation_p.E115K|TRERF1_ENST00000354325.2_Missense_Mutation_p.E115K|TRERF1_ENST00000372917.4_Missense_Mutation_p.E115K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	115					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCAGTGGGCTCAGCCTGGGCT	0.587000													23	237					0	0	0.099896	0	0
LPAR2	9170	broad.mit.edu	37	19	19735238	19735238	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:19735238A>T	ENST00000542587.1	-	6	1785	c.883T>A	c.(883-885)Tac>Aac	p.Y295N	LPAR2_ENST00000407877.3_Missense_Mutation_p.Y295N|LPAR2_ENST00000586703.1_Missense_Mutation_p.Y295N			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	295					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						CGGCAAGAGTACACAGCAGCA	0.587000													8	62					0	0	0.047766	0	0
GLI3	2737	broad.mit.edu	37	7	42004817	42004817	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:42004817G>T	ENST00000395925.3	-	15	3938	c.3854C>A	c.(3853-3855)cCc>cAc	p.P1285H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1285					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCCTTGCATGGGGGTGCTCTT	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				14	66					1.67942e-08	2.19178e-08	0.175082	1	0
SLC39A10	57181	broad.mit.edu	37	2	196573540	196573540	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:196573540G>C	ENST00000409086.3	+	5	1822	c.1547G>C	c.(1546-1548)aGa>aCa	p.R516T	SLC39A10_ENST00000541054.1_Missense_Mutation_p.R66T|SLC39A10_ENST00000359634.5_Missense_Mutation_p.R516T	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	516					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CACTGCATTAGAATGTTTAAG	0.284000													11	66					0	0	0.119110	0	0
PSD4	23550	broad.mit.edu	37	2	113950027	113950027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:113950027G>T	ENST00000245796.6	+	6	1894	c.1699G>T	c.(1699-1701)Gag>Tag	p.E567*	PSD4_ENST00000441564.2_Nonsense_Mutation_p.E539*	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	567	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGTCCCCAGAGGAAGGCCA	0.567000													28	204					2.80507e-11	3.95324e-11	0.163468	1	0
RUFY2	55680	broad.mit.edu	37	10	70156548	70156548	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:70156548C>T	ENST00000388768.2	-	4	818	c.492G>A	c.(490-492)agG>agA	p.R164R	RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000342616.4_Silent_p.R129R|RUFY2_ENST00000602465.1_Silent_p.R129R|RUFY2_ENST00000454950.2_Silent_p.R71R|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	178	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TCAAGAGATCCCTCTGAATAA	0.363000													11	34					0	0	0.093190	0	0
HEBP1	50865	broad.mit.edu	37	12	13142225	13142225	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:13142225C>T	ENST00000536942.1	-	2	353	c.203G>A	c.(202-204)gGc>gAc	p.G68D	HEBP1_ENST00000014930.4_Missense_Mutation_p.G68D			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTCATTGGTGCCCCCCGCATA	0.552000													23	167					0	0	0.279207	0	0
CSRNP2	81566	broad.mit.edu	37	12	51458218	51458218	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:51458218C>G	ENST00000228515.1	-	5	1240	c.943G>C	c.(943-945)Gag>Cag	p.E315Q		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	315					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCAATGAACTCCTGGAAGTCC	0.612000													11	152					0	0	0.080935	0	0
DOCK2	1794	broad.mit.edu	37	5	169461445	169461445	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:169461445G>T	ENST00000256935.8	+	35	3590	c.3510G>T	c.(3508-3510)tcG>tcT	p.S1170S	DOCK2_ENST00000520908.1_Silent_p.S662S|DOCK2_ENST00000540750.1_Silent_p.S231S|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1170	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCCAAGTCGGTGGAGAACT	0.572000													7	93					1.12685e-05	1.33675e-05	0.047766	1	0
C1orf100	200159	broad.mit.edu	37	1	244538728	244538728	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:244538728G>T	ENST00000308105.4	+	3	224	c.111G>T	c.(109-111)ctG>ctT	p.L37L	C1orf100_ENST00000366537.1_Silent_p.L37L|RP11-518L10.5_ENST00000417765.1_RNA	NM_001012970.1	NP_001012988.1	Q5SVJ3	CA100_HUMAN	chromosome 1 open reading frame 100	37										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			CTGGGCAGCTGGCAAGACTCC	0.443000													4	83					0.00116845	0.00128196	0.217242	1	0
ENOX1	55068	broad.mit.edu	37	13	43930134	43930134	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:43930134G>C	ENST00000261488.6	-	8	1321	c.744C>G	c.(742-744)gaC>gaG	p.D248E	ENOX1_ENST00000540032.1_Missense_Mutation_p.D61E|ENOX1_ENST00000412891.1_Missense_Mutation_p.D248E	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	248					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCCTGAGCCGGTCCTCCTCCA	0.632000													45	177					0	0	0.301197	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279288	2279288	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:2279288C>G	ENST00000440306.2	-	2	98	c.63G>C	c.(61-63)ggG>ggC	p.G21G	FTSJ2_ENST00000242257.8_Silent_p.G21G|FTSJ2_ENST00000486040.1_5'UTR			Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	21					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TGCAGCGACTCCCAACAGTGT	0.567000													6	171					0	0	0.278610	0	0
CD93	22918	broad.mit.edu	37	20	23065956	23065956	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:23065956G>T	ENST00000246006.4	-	1	1021	c.874C>A	c.(874-876)Cgg>Agg	p.R292R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	292	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R292G(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCAGCAGCCGGAATCCTGGT	0.627000													13	177					3.41278e-10	4.63241e-10	0.160694	1	0
TFB2M	64216	broad.mit.edu	37	1	246714577	246714577	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:246714577C>G	ENST00000366514.4	-	5	918	c.733G>C	c.(733-735)Gac>Cac	p.D245H	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	245					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TGATACAAGTCTGGATTTCCG	0.303000													7	58					0	0	0.047766	0	0
PARP6	56965	broad.mit.edu	37	15	72552003	72552003	+	Splice_Site	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:72552003C>T	ENST00000569795.1	-	11	1444		c.e11-1		PARP6_ENST00000260376.7_Splice_Site|PARP6_ENST00000287196.9_Splice_Site|PARP6_ENST00000413097.2_Splice_Site			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6								NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GACCACTGACCTGGTGAGAGT	0.498000													38	177					0	0	0.301197	0	0
KIF21B	23046	broad.mit.edu	37	1	200977955	200977955	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:200977955C>A	ENST00000332129.2	-	3	705	c.389G>T	c.(388-390)cGg>cTg	p.R130L	KIF21B_ENST00000360529.5_Missense_Mutation_p.R130L|KIF21B_ENST00000422435.2_Missense_Mutation_p.R130L|KIF21B_ENST00000461742.2_Missense_Mutation_p.R130L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	130	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCTGTGCCCGGCGCTTGCG	0.642000													12	140					1.05317e-09	1.407e-09	0.119110	1	0
PMS2CL	441194	broad.mit.edu	37	7	6777334	6777334	+	RNA	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:6777334C>T	ENST00000486256.1	+	0	1461					NR_002217.1																						TTCTGACATTCGTCAAAAGTT	0.368000													5	30					0	0	0.184627	0	0
LHX2	9355	broad.mit.edu	37	9	126794716	126794716	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:126794716C>A	ENST00000373615.4	+	5	1690	c.951C>A	c.(949-951)gcC>gcA	p.A317A	RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	317						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCCAGAACGCCCGAGCCAAGT	0.662000													16	76					2.70639e-06	3.26076e-06	0.249174	1	0
MZT2B	80097	broad.mit.edu	37	2	130948186	130948186	+	Missense_Mutation	SNP	G	G	T	rs1043152		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:130948186G>T	ENST00000281871.6	+	3	819	c.464G>T	c.(463-465)cGg>cTg	p.R155L	MZT2B_ENST00000409255.1_Missense_Mutation_p.R215L	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	155			R -> Q (in dbSNP:rs1043152).			centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						AGCCCTACACGGGGCAGCACC	0.592000													16	108					1.01871e-10	1.41219e-10	0.204396	1	0
APH1A	51107	broad.mit.edu	37	1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:150241120G>A	ENST00000360244.4	-	1	583	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C|APH1A_ENST00000369109.3_Missense_Mutation_p.R31C|C1orf54_ENST00000369102.1_5'UTR	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647000													3	22					0	0	0.184627	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841488	100841488	+	Missense_Mutation	SNP	G	G	C	rs147088021		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:100841488G>C	ENST00000223114.4	-	5	818	c.652C>G	c.(652-654)Ctg>Gtg	p.L218V	MOGAT3_ENST00000379423.3_Missense_Mutation_p.L218V|MOGAT3_ENST00000440203.2_Missense_Mutation_p.L218V	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	218					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CTCAGCGCCAGGCGCACGAAG	0.637000													8	47					0	0	0.058154	0	0
LAMA5	3911	broad.mit.edu	37	20	60889692	60889692	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:60889692G>C	ENST00000252999.3	-	61	8352	c.8286C>G	c.(8284-8286)ctC>ctG	p.L2762L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2762	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAGAACTTGAGGGCAGTGT	0.647000													6	123					0	0	0.278610	0	0
KYNU	8942	broad.mit.edu	37	2	143676239	143676239	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:143676239C>T	ENST00000264170.4	+	3	489	c.231C>T	c.(229-231)ggC>ggT	p.G77G	KYNU_ENST00000410015.2_Silent_p.G77G|KYNU_ENST00000409512.1_Silent_p.G77G|KYNU_ENST00000375773.2_Silent_p.G77G	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	77					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTCTCTTGGCCTTCAACCAA	0.279000													8	39					0	0	0.278610	0	0
DLL3	10683	broad.mit.edu	37	19	39995971	39995971	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:39995971G>T	ENST00000205143.4	+	6	980	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	DLL3_ENST00000356433.5_Missense_Mutation_p.G325C	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	325	EGF-like 3.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTTCAACGGCGGCTTGTGTGT	0.627000													10	234					0.000151284	0.000171767	0.105934	1	0
INCENP	3619	broad.mit.edu	37	11	61897383	61897383	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:61897383G>T	ENST00000394818.3	+	4	586	c.384G>T	c.(382-384)gcG>gcT	p.A128A	INCENP_ENST00000278849.4_Silent_p.A128A	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	128					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCGTGCTGCGGCTGCAGCTG	0.637000													9	94					4.3838e-07	5.42848e-07	0.105934	1	0
NKAP	79576	broad.mit.edu	37	X	119077510	119077510	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:119077510C>G	ENST00000371410.3	-	1	225	c.59G>C	c.(58-60)aGa>aCa	p.R20T		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	20	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ACTGCGACGTCTTCCCCCCGA	0.721000													5	36					0	0	0.047766	0	0
MEX3B	84206	broad.mit.edu	37	15	82336366	82336366	+	Missense_Mutation	SNP	G	G	C	rs149327902		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:82336366G>C	ENST00000329713.4	-	2	1280	c.845C>G	c.(844-846)tCt>tGt	p.S282C	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	282					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GCGGTAGCTAGAGAAAGGCTT	0.672000													4	67					0	0	0.150653	0	0
GAA	2548	broad.mit.edu	37	17	78078911	78078911	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:78078911G>C	ENST00000302262.3	+	2	745	c.526G>C	c.(526-528)Gag>Cag	p.E176Q	GAA_ENST00000390015.3_Missense_Mutation_p.E176Q	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	176					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GATGGAGACTGAGAACCGCCT	0.667000													6	101					0	0	0.278610	0	0
LMAN1	3998	broad.mit.edu	37	18	57000323	57000323	+	Splice_Site	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:57000323C>T	ENST00000251047.5	-	11	2091	c.1374_splice	c.e11+1	p.M458_splice		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	458					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACAAAGTTACCATATTTCGCT	0.368000													4	33					0	0	0.217242	0	0
MARVELD2	153562	broad.mit.edu	37	5	68737434	68737434	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:68737434C>G	ENST00000325631.5	+	7	1704	c.1630C>G	c.(1630-1632)Caa>Gaa	p.Q544E	MARVELD2_ENST00000413223.2_Missense_Mutation_p.Q428E	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	544					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GCAAAGAATTCAAGAATATGA	0.249000													8	66					0	0	0.069234	0	0
ZNF267	10308	broad.mit.edu	37	16	31895888	31895888	+	Nonsense_Mutation	SNP	C	C	T	rs149643297	by1000genomes	TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:31895888C>T	ENST00000300870.10	+	2	282	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	ZNF267_ENST00000394846.3_Nonsense_Mutation_p.Q25*	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	25	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GGAACCAGCTCAGAAGAATTT	0.408000													7	77					0	0	0.278610	0	0
OCRL	4952	broad.mit.edu	37	X	128695183	128695183	+	Silent	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:128695183A>G	ENST00000371113.4	+	10	1017	c.852A>G	c.(850-852)gaA>gaG	p.E284E	OCRL_ENST00000357121.5_Silent_p.E284E	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	284					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGAGCACAGAAGCCTTCTTCT	0.413000													21	94					0	0	0.294199	0	0
ZPBP	11055	broad.mit.edu	37	7	50057884	50057884	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:50057884G>C	ENST00000046087.2	-	6	804	c.735C>G	c.(733-735)ccC>ccG	p.P245P	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.P244P	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	245					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TACATCGCTTGGGTCCTTTTT	0.308000													6	69					0	0	0.217242	0	0
PSMC6	5706	broad.mit.edu	37	14	53180598	53180598	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:53180598G>T	ENST00000445930.2	+	7	489		c.e7-1		PSMC6_ENST00000606149.1_Splice_Site			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TTCTTTTCTAGGTGATAGAAT	0.328000													26	114					2.85442e-18	4.3562e-18	0.153744	1	0
DYSF	8291	broad.mit.edu	37	2	71778185	71778185	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:71778185G>T	ENST00000258104.3	+	18	1814	c.1537G>T	c.(1537-1539)Ggc>Tgc	p.G513C	DYSF_ENST00000409762.1_Missense_Mutation_p.G530C|DYSF_ENST00000409744.1_Missense_Mutation_p.G500C|DYSF_ENST00000394120.2_Missense_Mutation_p.G514C|DYSF_ENST00000409651.1_Missense_Mutation_p.G545C|DYSF_ENST00000409366.1_Missense_Mutation_p.G514C|DYSF_ENST00000409582.3_Missense_Mutation_p.G530C|DYSF_ENST00000413539.2_Missense_Mutation_p.G544C|DYSF_ENST00000410020.3_Missense_Mutation_p.G531C|DYSF_ENST00000429174.2_Missense_Mutation_p.G513C|DYSF_ENST00000410041.1_Missense_Mutation_p.G531C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	513						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGACTACCTGGGCTTCCTCCC	0.592000													19	102					4.4004e-07	5.44108e-07	0.279207	1	0
RBPJL	11317	broad.mit.edu	37	20	43936880	43936880	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:43936880C>G	ENST00000343694.3	+	2	192	c.120C>G	c.(118-120)ggC>ggG	p.G40G	MATN4_ENST00000342716.4_5'UTR|MATN4_ENST00000372751.4_5'UTR|MATN4_ENST00000353917.5_5'UTR|RBPJL_ENST00000372741.3_Silent_p.G40G|RBPJL_ENST00000372743.1_Silent_p.G40G|MATN4_ENST00000360607.5_5'UTR|MATN4_ENST00000537548.1_5'UTR	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	40					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCCTCCCGGGCACTTGGACCA	0.647000													7	26					0	0	0.058154	0	0
PRG3	10394	broad.mit.edu	37	11	57146163	57146163	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:57146163G>T	ENST00000287143.2	-	4	607	c.498C>A	c.(496-498)ctC>ctA	p.L166L		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	166	C-type lectin.				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CCCAGCCCCTGAGGTTGCCTC	0.507000													21	318					3.01185e-09	3.96124e-09	0.294199	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200821791	200821791	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:200821791G>C	ENST00000358823.2	+	12	3858	c.3588G>C	c.(3586-3588)aaG>aaC	p.K1196N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.K1180N|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.K1207N	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1207						cytoplasm|microtubule	protein binding										TGGAGCATAAGAAGGAGGAAA	0.408000													4	46					0	0	0.184627	0	0
CACNA2D1	781	broad.mit.edu	37	7	81593391	81593391	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:81593391A>T	ENST00000356860.3	-	34	3099	c.2761T>A	c.(2761-2763)Tgg>Agg	p.W921R	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.W933R|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.W133R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	933						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCAGTGGCCCACCAGCCAATT	0.338000													3	52					0	0	0.115264	0	0
PAK3	5063	broad.mit.edu	37	X	110366341	110366341	+	Missense_Mutation	SNP	G	G	A	rs140296303		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:110366341G>A	ENST00000519681.1	+	5	452	c.10G>A	c.(10-12)Ggt>Agt	p.G4S	PAK3_ENST00000372007.4_Missense_Mutation_p.G4S|PAK3_ENST00000446737.1_Missense_Mutation_p.G4S|PAK3_ENST00000360648.4_Missense_Mutation_p.G4S|PAK3_ENST00000425146.1_Missense_Mutation_p.G4S|PAK3_ENST00000417227.1_Missense_Mutation_p.G4S|PAK3_ENST00000372010.1_Missense_Mutation_p.G4S|PAK3_ENST00000518291.1_Missense_Mutation_p.G4S|PAK3_ENST00000262836.4_Missense_Mutation_p.G4S			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	4					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATGTCTGACGGTCTGGATAA	0.428000										TSP Lung(19;0.15)			6	65					0	0	0.047766	0	0
TSLP	85480	broad.mit.edu	37	5	110407741	110407741	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:110407741G>C	ENST00000420978.2	+	2	1575	c.153G>C	c.(151-153)ctG>ctC	p.L51L	TSLP_ENST00000344895.3_Silent_p.L51L			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	51						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTAAAGACCTGATTACATATA	0.358000													5	71					0	0	0.217242	0	0
AKR1C1	1645	broad.mit.edu	37	10	5014793	5014793	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:5014793C>T	ENST00000380872.4	+	7	890	c.698C>T	c.(697-699)cCg>cTg	p.P233L	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.P233L	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						CCGAACTCCCCGGTGCTCTTG	0.592000													5	151					0	0	0.278610	0	0
MTHFR	4524	broad.mit.edu	37	1	11854854	11854854	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:11854854G>C	ENST00000376592.1	-	6	1226	c.1098C>G	c.(1096-1098)ttC>ttG	p.F366L	MTHFR_ENST00000376585.1_Missense_Mutation_p.F407L|MTHFR_ENST00000376590.3_Missense_Mutation_p.F366L|MTHFR_ENST00000376583.3_Missense_Mutation_p.F407L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	366					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TGGAGGCCCAGAAGATGGGAC	0.592000													12	71					0	0	0.093190	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696596	50696596	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:50696596A>G	ENST00000008391.3	+	4	854	c.626A>G	c.(625-627)gAc>gGc	p.D209G	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	209							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACCCCACAGACTTATTTTGC	0.468000													20	91					0	0	0.249174	0	0
NRXN3	9369	broad.mit.edu	37	14	80130199	80130199	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:80130199G>T	ENST00000281127.7	+	3	1387	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	NRXN3_ENST00000335750.5_Missense_Mutation_p.D802Y|NRXN3_ENST00000428277.2_Missense_Mutation_p.D170Y|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.D802Y|NRXN3_ENST00000557594.1_Missense_Mutation_p.D170Y	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	170	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCTGTAAATGACGGCAAATA	0.468000													4	57					0.00024832	0.000278948	0.150653	1	0
PRUNE2	158471	broad.mit.edu	37	9	79320977	79320977	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:79320977C>A	ENST00000428286.1	-	8	6336	c.5136G>T	c.(5134-5136)tgG>tgT	p.W1712C	PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2071C			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2071					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGCATCTATCCACAAGTCAG	0.522000													8	172					1.06961e-07	1.34615e-07	0.278610	1	0
SYNJ2	8871	broad.mit.edu	37	6	158449833	158449833	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:158449833C>T	ENST00000355585.4	+	3	335	c.260C>T	c.(259-261)tCt>tTt	p.S87F	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S87F|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S36F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S87F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	87							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGCTGCACATCTGTGGGCAGA	0.547000													8	90					0	0	0.058154	0	0
SNED1	25992	broad.mit.edu	37	2	241969807	241969807	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:241969807A>T	ENST00000310397.8	+	2	320	c.320A>T	c.(319-321)gAt>gTt	p.D107V	SNED1_ENST00000342631.6_Missense_Mutation_p.D107V|SNED1_ENST00000401884.1_Missense_Mutation_p.D107V|SNED1_ENST00000405547.3_Missense_Mutation_p.D107V|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	107	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TTCTGGGCAGATGTGGACAAC	0.632000													3	18					0	0	0.115264	0	0
OPA1	4976	broad.mit.edu	37	3	193336694	193336694	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:193336694G>A	ENST00000361510.2	+	6	881	c.647G>A	c.(646-648)cGt>cAt	p.R216H	OPA1_ENST00000361150.2_Missense_Mutation_p.R162H|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Missense_Mutation_p.R216H|OPA1_ENST00000392438.3_Missense_Mutation_p.R198H|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361715.2_Missense_Mutation_p.R180H|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361908.3_Missense_Mutation_p.R198H	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	198					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GCAACAGATCGTGGATCTGAA	0.358000													6	157					0	0	0.058154	0	0
MALAT1	378938	broad.mit.edu	37	11	65271973	65271973	+	RNA	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:65271973G>C	ENST00000534336.1	+	0	6741					NR_002819.2																						AAATCCAGCTGAGTGATAAAG	0.383000													3	48					0	0	0.184627	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793671	124793671	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:124793671G>T	ENST00000298251.4	-	3	1068	c.663C>A	c.(661-663)aaC>aaA	p.N221K		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	221	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGCTGATGGGGTTCTCCACCA	0.567000													13	86					2.23348e-06	2.70252e-06	0.146539	1	0
OR7D4	125958	broad.mit.edu	37	19	9324879	9324879	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:9324879G>T	ENST00000308682.2	-	1	663	c.635C>A	c.(634-636)gCt>gAt	p.A212D		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAGGATCCCAGCTACAGGAAA	0.522000													15	80					1.02788e-11	1.45345e-11	0.160694	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761639	92761639	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:92761639A>G	ENST00000318238.4	-	5	4862	c.3646T>C	c.(3646-3648)Ttt>Ctt	p.F1216L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1216L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1216L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1216										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGTGGAAAAAGGGAGTGAGC	0.378000													3	91					0	0	0.150653	0	0
CRY1	1407	broad.mit.edu	37	12	107393832	107393832	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:107393832C>T	ENST00000008527.5	-	6	1580	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	238	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CGCATTCATTCGAGGTCTTTC	0.363000													9	72					0	0	0.093190	0	0
TFG	10342	broad.mit.edu	37	3	100467175	100467175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:100467175C>T	ENST00000240851.4	+	8	1343	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	TFG_ENST00000490574.1_Nonsense_Mutation_p.Q335*|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000418917.2_Nonsense_Mutation_p.Q331*|TFG_ENST00000476228.1_Nonsense_Mutation_p.Q331*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	335					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CCAAACTTCTCAGCCTACTAA	0.522000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								12	83					0	0	0.146539	0	0
COL1A1	1277	broad.mit.edu	37	17	48270400	48270400	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:48270400G>A	ENST00000225964.5	-	26	1894	c.1776C>T	c.(1774-1776)ccC>ccT	p.P592P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	592	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CAGCCTTGCCGGGCTCTCCCT	0.587000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	43					0	0	0.150653	0	0
CCKBR	887	broad.mit.edu	37	11	6291424	6291424	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:6291424C>T	ENST00000525462.1	+	3	513	c.510C>T	c.(508-510)caC>caT	p.H170H	CCKBR_ENST00000532715.1_Silent_p.H86H|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000334619.2_Silent_p.H170H			P32239	GASR_HUMAN	cholecystokinin B receptor	139					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CGCGCTCCCACGCGGCTCGCG	0.647000													3	31					0	0	0.115264	0	0
SUGP2	10147	broad.mit.edu	37	19	19136694	19136694	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:19136694C>T	ENST00000601879.1	-	3	760	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SUGP2_ENST00000456085.2_Silent_p.K56K|SUGP2_ENST00000600377.1_Missense_Mutation_p.E169K|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Missense_Mutation_p.E155K|SUGP2_ENST00000337018.6_Missense_Mutation_p.E155K			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	155					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAAGAGGACTCTTGAGAAACT	0.498000													13	103					0	0	0.132662	0	0
THG1L	54974	broad.mit.edu	37	5	157160017	157160017	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:157160017C>G	ENST00000231198.7	+	2	577	c.333C>G	c.(331-333)ttC>ttG	p.F111L	AC026407.1_ENST00000599823.1_Missense_Mutation_p.E60Q	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	111					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTTTGTGTTCAAGCGGAAAA	0.433000													11	163					0	0	0.093190	0	0
TNIK	23043	broad.mit.edu	37	3	170843812	170843812	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:170843812C>T	ENST00000436636.2	-	17	2246	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TNIK_ENST00000369326.5_Silent_p.E605E|TNIK_ENST00000284483.8_Silent_p.E634E|TNIK_ENST00000538048.1_Silent_p.E579E|TNIK_ENST00000470834.1_Silent_p.E605E|TNIK_ENST00000460047.1_Silent_p.E579E|TNIK_ENST00000357327.5_Silent_p.E605E|TNIK_ENST00000475336.1_Silent_p.E550E|TNIK_ENST00000341852.6_Silent_p.E550E|TNIK_ENST00000488470.1_Silent_p.E579E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	634	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGCGTGGCATCTCCACGCGGT	0.577000													4	85					0	0	0.184627	0	0
HSPG2	3339	broad.mit.edu	37	1	22173847	22173847	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:22173847C>A	ENST00000374695.3	-	62	8243	c.8164_splice	c.e62+1	p.A2722_splice	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2722	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAGACTCACCGGAGGGGCTG	0.617000													4	55					0.014758	0.015528	0.184627	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88193913	88193913	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:88193913T>C	ENST00000357081.3	-	24	3408	c.3264A>G	c.(3262-3264)gtA>gtG	p.V1088V	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.V1100V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.V1048V			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1088					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCCTCCAAACTACAACACGTG	0.408000													34	114					0	0	0.214465	0	0
LRP5	4041	broad.mit.edu	37	11	68153797	68153797	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:68153797G>A	ENST00000294304.7	+	6	1135	c.1029G>A	c.(1027-1029)gtG>gtA	p.V343V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	343	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGAGGAGGTGCTGCTGCTGG	0.657000													12	63					0	0	0.146539	0	0
CD300E	342510	broad.mit.edu	37	17	72613353	72613353	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:72613353C>A	ENST00000392619.1	-	2	408	c.373G>T	c.(373-375)Gat>Tat	p.D125Y	CD300E_ENST00000426295.2_Missense_Mutation_p.D139Y|CD300E_ENST00000328630.3_Missense_Mutation_p.D98Y	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	98						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GATCCAGCATCATCTTCATTG	0.537000													32	139					1.30998e-17	1.98845e-17	0.225048	1	0
LRRC4B	94030	broad.mit.edu	37	19	51022444	51022444	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:51022444A>T	ENST00000599957.1	-	3	723	c.526T>A	c.(526-528)Tac>Aac	p.Y176N	LRRC4B_ENST00000389201.3_Missense_Mutation_p.Y176N			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	176						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TTGAAGGCGTAGGAGGGGATG	0.662000													14	96					0	0	0.175082	0	0
RIF1	55183	broad.mit.edu	37	2	152291976	152291976	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:152291976G>T	ENST00000243326.4	+	10	1560		c.e10-1		RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000433166.2_Intron|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site|RIF1_ENST00000444746.2_Splice_Site			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTACCCCATAGGTTTGTGTGC	0.343000													20	135					1.04121e-07	1.32418e-07	0.108266	1	0
CTAGE4	100128553	broad.mit.edu	37	7	143882699	143882699	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:143882699C>G	ENST00000486333.1	+	1	2141	c.2103C>G	c.(2101-2103)atC>atG	p.I701M		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	701	Pro-rich.			IS -> VR (in Ref. 1; BAF84925).		integral to membrane				endometrium(1)|ovary(2)	3						TTGCTCCAATCAGCGGTCCAT	0.507000													10	211					0	0	0.204396	0	0
DMD	1756	broad.mit.edu	37	X	32429947	32429947	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:32429947G>T	ENST00000357033.4	-	30	4361	c.4155C>A	c.(4153-4155)tcC>tcA	p.S1385S	DMD_ENST00000378677.2_Silent_p.S1381S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1385					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATGTGAGGGACTCCTGGA	0.468000													12	23					0.000978159	0.00108018	0.080935	1	0
AFF2	2334	broad.mit.edu	37	X	148048561	148048561	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:148048561C>T	ENST00000370460.2	+	14	3634	c.3155C>T	c.(3154-3156)tCc>tTc	p.S1052F	AFF2_ENST00000286437.5_Missense_Mutation_p.S693F|AFF2_ENST00000342251.3_Missense_Mutation_p.S1019F|AFF2_ENST00000370457.5_Missense_Mutation_p.S1017F	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1052					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCTTCTATCCAGCAGCAGC	0.517000													31	149					0	0	0.183431	0	0
ABCB1	5243	broad.mit.edu	37	7	87196198	87196198	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:87196198G>T	ENST00000265724.3	-	7	850	c.433C>A	c.(433-435)Cac>Aac	p.H145N	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	145	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTAATTTTGTGTATTTGTCTT	0.433000													11	68					0.010729	0.0114165	0.080935	1	0
FBXO40	51725	broad.mit.edu	37	3	121341582	121341582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:121341582G>T	ENST00000338040.4	+	3	1720	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	436					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTTTGAGCCAGAACAGTTTTC	0.517000													16	118					2.35188e-11	3.32007e-11	0.175082	1	0
OR4K5	79317	broad.mit.edu	37	14	20389208	20389208	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:20389208C>T	ENST00000315915.4	+	1	468	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTAATGATCTCCTGGGCTGTG	0.433000													20	441					0	0	0.249174	0	0
JADE2	23338	broad.mit.edu	37	5	133871559	133871559	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:133871559G>A	ENST00000395003.1	+	2	191	c.12G>A	c.(10-12)aaG>aaA	p.K4K	PHF15_ENST00000515554.1_3'UTR|PHF15_ENST00000282605.4_Silent_p.K4K|PHF15_ENST00000361895.2_Silent_p.K4K|PHF15_ENST00000402835.1_Silent_p.K4K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		4					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAAGAGAAGAGGCGAAAAT	0.488000													10	77					0	0	0.093190	0	0
ZNF2	7549	broad.mit.edu	37	2	95843287	95843287	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:95843287G>T	ENST00000340539.5	+	3	555	c.93G>T	c.(91-93)ctG>ctT	p.L31L	ZNF2_ENST00000453539.2_Silent_p.L31L|ZNF2_ENST00000425369.1_5'UTR|ZNF2_ENST00000398107.2_5'UTR|ZNF2_ENST00000295210.6_Silent_p.L31L	NM_021088.2	NP_066574.2	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GGAGTCGTCTGGTCCCCATAC	0.473000													25	118					9.39395e-14	1.36011e-13	0.116897	1	0
CCDC171	203238	broad.mit.edu	37	9	15728011	15728011	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:15728011G>T	ENST00000380701.3	+	15	2165	c.1837G>T	c.(1837-1839)Gac>Tac	p.D613Y	CCDC171_ENST00000297641.3_Missense_Mutation_p.D613Y	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	613																	CCTGATTGCAGACCTCAACAG	0.448000													14	52					2.4624e-09	3.24868e-09	0.204396	1	0
DOCK1	1793	broad.mit.edu	37	10	128925939	128925939	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:128925939A>T	ENST00000280333.6	+	27	2804	c.2695A>T	c.(2695-2697)Acc>Tcc	p.T899S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	899					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCAGGGGCCAACCCAGAGGCA	0.488000													24	77					0	0	0.134883	0	0
EPHA6	285220	broad.mit.edu	37	3	96963033	96963033	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:96963033T>C	ENST00000389672.5	+	5	1546	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A	EPHA6_ENST00000470610.2_Missense_Mutation_p.V503A	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	408	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGTCTCACGTGAATTACACC	0.453000													4	99					0	0	0.150653	0	0
SGSM2	9905	broad.mit.edu	37	17	2278842	2278842	+	Silent	SNP	C	C	T	rs17853889		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:2278842C>T	ENST00000268989.3	+	18	2334	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	SGSM2_ENST00000574563.1_Silent_p.S674S|RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.S674S	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	674	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CTGAAGATTCCAGACCAAAAC	0.622000													3	84					0	0	0.115264	0	0
GON4L	54856	broad.mit.edu	37	1	155726769	155726769	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:155726769C>T	ENST00000437809.1	-	27	5619	c.5497G>A	c.(5497-5499)Ggg>Agg	p.G1833R	GON4L_ENST00000368331.1_Missense_Mutation_p.G1833R|GON4L_ENST00000271883.5_Missense_Mutation_p.G1833R			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1833					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTGGACCCCGATCTCTTTT	0.438000													8	60					0	0	0.058154	0	0
GALNT13	114805	broad.mit.edu	37	2	155102407	155102407	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:155102407G>T	ENST00000392825.3	+	7	1336	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	GALNT13_ENST00000409237.1_Missense_Mutation_p.G257C	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	257						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GACTTATGGGGGTTTTAACTG	0.413000													21	79					7.87624e-14	1.14233e-13	0.264190	1	0
CALCR	799	broad.mit.edu	37	7	93116291	93116291	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:93116291C>T	ENST00000359558.2	-	4	356	c.57G>A	c.(55-57)atG>atA	p.M19I	CALCR_ENST00000426151.1_Start_Codon_SNP_p.M1I|CALCR_ENST00000394441.1_Start_Codon_SNP_p.M1I|CALCR_ENST00000421592.1_Start_Codon_SNP_p.M1I|CALCR_ENST00000360249.4_Start_Codon_SNP_p.M1I	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	1					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATGTGAACCTCATTTTTGATT	0.303000													9	78					0	0	0.093190	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677417	3677417	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:3677417C>A	ENST00000344754.4	-	10	2498	c.2499G>T	c.(2497-2499)gaG>gaT	p.E833D	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E833D	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	833	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCAGGAGGTGCTCCCCATGGA	0.627000													15	45					0.00887093	0.00952304	0.204396	1	0
LRRC7	57554	broad.mit.edu	37	1	70504741	70504741	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:70504741G>T	ENST00000310961.5	+	22	3553	c.3135G>T	c.(3133-3135)gtG>gtT	p.V1045V	LRRC7_ENST00000035383.5_Silent_p.V1040V|LRRC7_ENST00000415775.2_Silent_p.V324V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1040						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGGATCAGTGGAAGTGAAAG	0.443000													6	48					3.59834e-05	4.15797e-05	0.217242	1	0
AHNAK2	113146	broad.mit.edu	37	14	105409122	105409122	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:105409122G>T	ENST00000333244.5	-	7	12785	c.12666C>A	c.(12664-12666)ccC>ccA	p.P4222P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4222						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTCAAACAGGGCATCTGCA	0.652000													16	134					2.94398e-08	3.81277e-08	0.189662	1	0
APC	324	broad.mit.edu	37	5	112154981	112154981	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:112154981G>A	ENST00000457016.1	+	10	1632	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	APC_ENST00000508376.2_Missense_Mutation_p.E418K|APC_ENST00000257430.4_Missense_Mutation_p.E418K			P25054	APC_HUMAN	adenomatous polyposis coli	418	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGCTTACTGTGAAACCTGTTG	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	66					0	0	0.047766	0	0
ABCG8	64241	broad.mit.edu	37	2	44079782	44079782	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:44079782A>C	ENST00000272286.2	+	6	829	c.739A>C	c.(739-741)Aca>Cca	p.T247P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	247	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGACAGCTTCACAGCCCACAA	0.592000													20	126					0	0	0.249174	0	0
PLA2R1	22925	broad.mit.edu	37	2	160840580	160840580	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:160840580A>C	ENST00000283243.7	-	13	2248	c.2042T>G	c.(2041-2043)tTt>tGt	p.F681C	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F681C	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	681	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCACTATGAAATACCTGTAT	0.313000													8	71					0	0	0.069234	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460205	107460205	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:107460205G>A	ENST00000409382.3	-	2	839	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R77C|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R77C	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	77					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AGCGCCTGGCGTGCGTCCAGG	0.677000													3	24					0	0	0.150653	0	0
PLXNA4	91584	broad.mit.edu	37	7	131833385	131833385	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:131833385C>T	ENST00000359827.3	-	26	5643	c.4681G>A	c.(4681-4683)Gca>Aca	p.A1561T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1561T			Q9HCM2	PLXA4_HUMAN	plexin A4	1561						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ATCATCCTTGCCCCACTTCCT	0.537000													20	106					0	0	0.279207	0	0
HSF5	124535	broad.mit.edu	37	17	56536228	56536228	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:56536228C>G	ENST00000323777.3	-	5	1730	c.1621G>C	c.(1621-1623)Gaa>Caa	p.E541Q		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	541						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCCCCATTTCTGAAATGAGG	0.463000													9	187					0	0	0.058154	0	0
TIPIN	54962	broad.mit.edu	37	15	66641752	66641752	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:66641752G>C	ENST00000261881.4	-	5	397	c.312C>G	c.(310-312)atC>atG	p.I104M	TIPIN_ENST00000367709.4_Missense_Mutation_p.I3M	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	104	Interaction with TIMELESS.				cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CCATGTGTCTGATTAGCATCT	0.423000													14	102					0	0	0.160694	0	0
ATP2C1	27032	broad.mit.edu	37	3	130698120	130698120	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:130698120T>A	ENST00000510168.1	+	19	2148	c.1598T>A	c.(1597-1599)cTg>cAg	p.L533Q	ATP2C1_ENST00000533801.2_Missense_Mutation_p.L528Q|ATP2C1_ENST00000513801.1_Missense_Mutation_p.L517Q|ATP2C1_ENST00000504381.1_Missense_Mutation_p.L478Q|ATP2C1_ENST00000328560.8_Missense_Mutation_p.L533Q|ATP2C1_ENST00000508532.1_Missense_Mutation_p.L533Q|ATP2C1_ENST00000428331.2_Missense_Mutation_p.L533Q|ATP2C1_ENST00000505330.1_Missense_Mutation_p.L517Q|ATP2C1_ENST00000359644.3_Missense_Mutation_p.L533Q|ATP2C1_ENST00000393221.4_Missense_Mutation_p.L567Q|ATP2C1_ENST00000422190.2_Missense_Mutation_p.L533Q|ATP2C1_ENST00000507488.2_Missense_Mutation_p.L517Q|ATP2C1_ENST00000504948.1_Missense_Mutation_p.L517Q			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	533					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GGTCCTGAACTGGGACAGCTG	0.383000									Hailey-Hailey disease				10	95					0	0	0.080935	0	0
WNT7A	7476	broad.mit.edu	37	3	13860824	13860824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:13860824C>A	ENST00000285018.4	-	4	971	c.667G>T	c.(667-669)Gag>Tag	p.E223*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	223					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TAGCCCAGCTCCCGAAACTGT	0.587000													21	90					6.44725e-10	8.69558e-10	0.249174	1	0
OR10G7	390265	broad.mit.edu	37	11	123909440	123909440	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:123909440G>A	ENST00000330487.5	-	1	277	c.269C>T	c.(268-270)aCt>aTt	p.T90I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	90			T -> A (in dbSNP:rs470208).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGGAGATAGTCCTGCCGCT	0.517000													14	224					0	0	0.219247	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558725	113558725	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:113558725C>G	ENST00000284601.3	-	1	395	c.327G>C	c.(325-327)ctG>ctC	p.L109L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	109					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCAAGTCAAACAGTGGGGCTA	0.398000													13	104					0	0	0.119110	0	0
VPS37D	155382	broad.mit.edu	37	7	73085404	73085404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:73085404C>T	ENST00000324941.4	+	4	588	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	VPS37D_ENST00000451519.1_Nonsense_Mutation_p.Q67*	NM_001077621.1	NP_001071089.1	Q86XT2	VP37D_HUMAN	vacuolar protein sorting 37 homolog D (S. cerevisiae)	152	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCCTGCCTTCCAGCGTGGCCG	0.711000													14	31					0	0	0.119110	0	0
CDC20	991	broad.mit.edu	37	1	43825190	43825190	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:43825190C>G	ENST00000372462.1	+	2	414	c.211C>G	c.(211-213)Cct>Gct	p.P71A	CDC20_ENST00000310955.6_Missense_Mutation_p.P71A			Q12834	CDC20_HUMAN	cell division cycle 20	71					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCAGACCACTCCTAGCAAACC	0.567000													5	105					0	0	0.248553	0	0
FAM98C	147965	broad.mit.edu	37	19	38899479	38899479	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:38899479G>T	ENST00000252530.5	+	8	1026	c.1007G>T	c.(1006-1008)gGa>gTa	p.G336V	FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.G254V	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	336										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGAGAGGATGGAGGCCCCCAG	0.597000													9	38					2.74318e-10	3.72949e-10	0.058154	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13910546	13910546	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:13910546T>G	ENST00000254323.2	+	2	355	c.166T>G	c.(166-168)Ttc>Gtc	p.F56V		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	56							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGAGGAGCGGTTCTCCCGGGT	0.587000													16	109					0	0	0.264190	0	0
ARID2	196528	broad.mit.edu	37	12	46244231	46244231	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:46244231A>T	ENST00000334344.6	+	15	2497	c.2325A>T	c.(2323-2325)ttA>ttT	p.L775F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L626F|ARID2_ENST00000444670.1_Missense_Mutation_p.L385F	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	775					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTCTCCATTACACACAGTGG	0.448000			"""N, S, F"""		hepatocellular carcinoma								3	40					0	0	0.150653	0	0
MYOM1	8736	broad.mit.edu	37	18	3089174	3089174	+	Nonsense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:3089174T>A	ENST00000400569.3	-	29	4468	c.4135A>T	c.(4135-4137)Aag>Tag	p.K1379*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.K1283*|MYOM1_ENST00000356443.4_Nonsense_Mutation_p.K1379*			P52179	MYOM1_HUMAN	myomesin 1	1379	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						CCTCTTACCTTGCATTTCAAT	0.318000													5	48					0	0	0.217242	0	0
SCML1	6322	broad.mit.edu	37	X	17768290	17768290	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:17768290C>T	ENST00000380043.3	+	5	827	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	SCML1_ENST00000398080.1_Missense_Mutation_p.P73S|SCML1_ENST00000380045.3_Missense_Mutation_p.P73S|SCML1_ENST00000380041.3_Missense_Mutation_p.P194S	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	194					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TAATTGTCAGCCGTATTATGC	0.532000													24	66					0	0	0.144211	0	0
SERTAD3	29946	broad.mit.edu	37	19	40947420	40947420	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:40947420T>C	ENST00000322354.3	-	2	1064	c.568A>G	c.(568-570)Atg>Gtg	p.M190V	SERTAD3_ENST00000392028.4_Missense_Mutation_p.M190V	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	190					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGATTTCCATGATGTGATCC	0.532000													9	114					0	0	0.058154	0	0
IGFL2	147920	broad.mit.edu	37	19	46652273	46652273	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:46652273G>A	ENST00000434646.2	+	2	322	c.31G>A	c.(31-33)Gac>Aac	p.D11N	IGFL2_ENST00000600243.1_Intron|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Intron	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	0						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		CATGAGGACCGACTACCCCAG	0.552000													3	23					0	0	0.115264	0	0
TALDO1	6888	broad.mit.edu	37	11	760160	760160	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:760160G>T	ENST00000319006.3	+	4	521	c.368G>T	c.(367-369)aGg>aTg	p.R123M	TALDO1_ENST00000528097.1_Missense_Mutation_p.R123M			P37837	TALDO_HUMAN	transaldolase 1	123					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCCAGAGCCAGGCGGCTCATC	0.527000													3	57					0.000602214	0.00067027	0.184627	1	0
OR5T2	219464	broad.mit.edu	37	11	56000134	56000134	+	Silent	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:56000134T>A	ENST00000313264.4	-	1	603	c.528A>T	c.(526-528)tcA>tcT	p.S176S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGACTCTGGGTGACATGCTCA	0.443000													13	152					0	0	0.105934	0	0
PIWIL4	143689	broad.mit.edu	37	11	94310469	94310469	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:94310469G>T	ENST00000299001.6	+	4	535	c.324G>T	c.(322-324)ctG>ctT	p.L108L	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	108					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGTGAAACTGGTTACAAACC	0.343000													7	65					5.4927e-09	7.1906e-09	0.047766	1	0
CTTN	2017	broad.mit.edu	37	11	70279260	70279260	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:70279260G>A	ENST00000301843.8	+	16	1526	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	CTTN_ENST00000346329.3_Silent_p.T403T|CTTN_ENST00000376561.3_Silent_p.T403T|CTTN_ENST00000538675.1_Silent_p.T124T	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	440						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGAGTGGGACGGAGCCGGAGC	0.642000													12	72					0	0	0.146539	0	0
DENND1A	57706	broad.mit.edu	37	9	126165738	126165738	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:126165738C>G	ENST00000373624.2	-	20	1721	c.1520G>C	c.(1519-1521)aGa>aCa	p.R507T	DENND1A_ENST00000542603.1_Missense_Mutation_p.R249T|DENND1A_ENST00000373620.3_Missense_Mutation_p.R507T|DENND1A_ENST00000394219.3_Missense_Mutation_p.R475T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.R477T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	507						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCTCTTTGGTCTCTTAACAAC	0.547000													5	52					0	0	0.248553	0	0
IKZF2	22807	broad.mit.edu	37	2	213872749	213872749	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:213872749C>T	ENST00000457361.1	-	8	1084	c.916G>A	c.(916-918)Gag>Aag	p.E306K	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Missense_Mutation_p.E306K|IKZF2_ENST00000374319.4_Missense_Mutation_p.E280K|IKZF2_ENST00000451136.2_Missense_Mutation_p.E234K|IKZF2_ENST00000342002.2_Missense_Mutation_p.E312K|IKZF2_ENST00000374327.4_Missense_Mutation_p.E161K|IKZF2_ENST00000421754.2_Missense_Mutation_p.E232K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GCCTCCTTCTCATATGTTAAG	0.448000													4	61					0	0	0.150653	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379548	113379548	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:113379548G>A	ENST00000316407.4	-	7	1391	c.981C>T	c.(979-981)ttC>ttT	p.F327F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.F327F	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	327					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AATCACCTCTGAAGTCCTGTA	0.468000													8	80					0	0	0.080935	0	0
DENND4B	9909	broad.mit.edu	37	1	153907440	153907440	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:153907440C>A	ENST00000361217.4	-	18	2987	c.2568_splice	c.e18-1	p.A857_splice		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	857										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCAACACAGCCTACCAAGCA	0.642000													26	99					8.16721e-17	1.23089e-16	0.153744	1	0
BIRC6	57448	broad.mit.edu	37	2	32735679	32735679	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:32735679C>G	ENST00000421745.2	+	53	10458	c.10324C>G	c.(10324-10326)Cag>Gag	p.Q3442E		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3442					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGAACAACTCAGGATCCTGG	0.338000													10	144					0	0	0.105934	0	0
GPCPD1	56261	broad.mit.edu	37	20	5559172	5559172	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:5559172C>G	ENST00000379019.4	-	8	771	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	187					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AAGGATATCTCCAAGCTATTG	0.463000													7	61					0	0	0.248553	0	0
LPHN2	23266	broad.mit.edu	37	1	82417739	82417739	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:82417739G>A	ENST00000370728.1	+	11	2340	c.1695G>A	c.(1693-1695)ttG>ttA	p.L565L	LPHN2_ENST00000370725.1_Silent_p.L565L|LPHN2_ENST00000370715.1_Silent_p.L565L|LPHN2_ENST00000359929.3_Silent_p.L565L|LPHN2_ENST00000370717.2_Silent_p.L565L|LPHN2_ENST00000370713.1_Silent_p.L565L|LPHN2_ENST00000271029.4_Silent_p.L565L|LPHN2_ENST00000394879.1_Silent_p.L565L|LPHN2_ENST00000370730.1_Silent_p.L565L|LPHN2_ENST00000335786.5_Silent_p.L565L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.L565L|LPHN2_ENST00000370727.1_Silent_p.L565L|LPHN2_ENST00000370723.1_Silent_p.L565L|LPHN2_ENST00000370721.1_Silent_p.L503L			O95490	LPHN2_HUMAN	latrophilin 2	565					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGTGAGATTGATGGAGCAGT	0.458000													26	62					0	0	0.116897	0	0
GPR112	139378	broad.mit.edu	37	X	135427294	135427294	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:135427294G>T	ENST00000394143.1	+	6	1720	c.1429G>T	c.(1429-1431)Gct>Tct	p.A477S	GPR112_ENST00000394141.1_Missense_Mutation_p.A272S|GPR112_ENST00000370652.1_Missense_Mutation_p.A477S|GPR112_ENST00000412101.1_Missense_Mutation_p.A272S|GPR112_ENST00000287534.4_Missense_Mutation_p.A414S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	477					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATCTCCACAGCTGCTCCAGT	0.448000													24	37					1.77063e-15	2.6311e-15	0.108266	1	0
CHEK2	11200	broad.mit.edu	37	22	29092897	29092897	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr22:29092897G>A	ENST00000544772.1	-	11	1860	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F	CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.L406F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.L363F|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.L272F|CHEK2_ENST00000405598.1_Missense_Mutation_p.L363F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L272F|CHEK2_ENST00000328354.6_Missense_Mutation_p.L363F|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	363	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ACCTTTATAAGACAGTCCTCT	0.373000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					8	59					0	0	0.069234	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602200	13602200	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:13602200G>T	ENST00000040738.5	-	10	6459	c.6324C>A	c.(6322-6324)acC>acA	p.T2108T		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2108							DNA binding										TGGTTACTCTGGTACCTTCCA	0.483000													4	17					0.00909568	0.00970282	0.150653	1	0
PFKL	5211	broad.mit.edu	37	21	45741631	45741631	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr21:45741631T>G	ENST00000403390.1	+	14	1352	c.1352T>G	c.(1351-1353)aTc>aGc	p.I451S	PFKL_ENST00000349048.4_Missense_Mutation_p.I404S			P17858	K6PL_HUMAN	phosphofructokinase, liver	404					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCCCTGGCCATCCTGAATGTG	0.652000													10	52					0	0	0.105934	0	0
ZNF236	7776	broad.mit.edu	37	18	74649227	74649227	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:74649227G>T	ENST00000253159.8	+	26	4902	c.4704G>T	c.(4702-4704)acG>acT	p.T1568T	ZNF236_ENST00000320610.9_Silent_p.T1570T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1568					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTAGTGTCACGCTGACGCTGG	0.577000													7	46					3.09899e-07	3.86006e-07	0.047766	1	0
ENTPD6	955	broad.mit.edu	37	20	25198149	25198149	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:25198149G>T	ENST00000360031.2	+	9	989	c.807G>T	c.(805-807)caG>caT	p.Q269H	ENTPD6_ENST00000354989.5_Missense_Mutation_p.Q253H|ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q270H|ENTPD6_ENST00000376652.4_Missense_Mutation_p.Q270H	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	270						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCACCCTGCAGGCCTCCCCAC	0.537000													20	125					7.88262e-20	1.21614e-19	0.279207	1	0
PLXNB3	5365	broad.mit.edu	37	X	153042823	153042823	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:153042823G>T	ENST00000538966.1	+	31	5428	c.5157G>T	c.(5155-5157)ctG>ctT	p.L1719L	PLXNB3_ENST00000361971.5_Silent_p.L1696L|PLXNB3_ENST00000538776.1_Silent_p.L1349L|PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000489426.1_5'UTR	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1696					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCCGTCTGCTGTCCATGA	0.692000													4	16					0.014758	0.015528	0.184627	1	0
MALAT1	378938	broad.mit.edu	37	11	65273348	65273348	+	RNA	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:65273348G>C	ENST00000534336.1	+	0	8116					NR_002819.2																						TTGTAGACTGGAGAAGATAGG	0.408000													7	82					0	0	0.248553	0	0
PROSER1	80209	broad.mit.edu	37	13	39587770	39587770	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:39587770C>A	ENST00000352251.3	-	11	2452	c.1619G>T	c.(1618-1620)gGc>gTc	p.G540V	PROSER1_ENST00000350125.3_Missense_Mutation_p.G518V|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	540	Ser-rich.																AGACGGCAGGCCTGGGAACAG	0.567000													12	50					1.61879e-10	2.22223e-10	0.093190	1	0
CATSPERG	57828	broad.mit.edu	37	19	38861387	38861387	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:38861387C>G	ENST00000409235.3	+	29	3550	c.3435C>G	c.(3433-3435)gaC>gaG	p.D1145E	CATSPERG_ENST00000410018.1_Missense_Mutation_p.D1105E|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1145					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGACAGAGGACAGGGCTGAAC	0.562000													15	97					0	0	0.175082	0	0
DFNB31	25861	broad.mit.edu	37	9	117185645	117185645	+	Silent	SNP	C	C	A	rs147266255		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:117185645C>A	ENST00000362057.3	-	7	1743	c.1575G>T	c.(1573-1575)acG>acT	p.T525T	DFNB31_ENST00000374059.3_Silent_p.T174T|DFNB31_ENST00000265134.6_Silent_p.T142T	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	525					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGATGAACCCGTGTCACTGT	0.632000													16	124					5.01169e-05	5.7519e-05	0.160694	1	0
OTOF	9381	broad.mit.edu	37	2	26700551	26700551	+	Missense_Mutation	SNP	G	G	C	rs137982529		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:26700551G>C	ENST00000272371.2	-	19	2407	c.2281C>G	c.(2281-2283)Cgg>Ggg	p.R761G	OTOF_ENST00000339598.3_Missense_Mutation_p.R14G|OTOF_ENST00000402415.3_Missense_Mutation_p.R71G|OTOF_ENST00000338581.6_Missense_Mutation_p.R14G|OTOF_ENST00000403946.3_Missense_Mutation_p.R761G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	761					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGACGCCCCGCAGGCGACGC	0.622000													8	53					0	0	0.058154	0	0
CABIN1	23523	broad.mit.edu	37	22	24434856	24434856	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr22:24434856G>C	ENST00000398319.2	+	4	542	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.E53Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.E53Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	53					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGACCGGTTTGAGGAGTCTGC	0.527000													7	103					0	0	0.248553	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517357	75517357	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:75517357A>T	ENST00000318622.4	+	5	991	c.362A>T	c.(361-363)cAc>cTc	p.H121L	RHBDD2_ENST00000006777.6_Missense_Mutation_p.H262L|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Missense_Mutation_p.H121L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	262						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGCCACCCTCACCTGTCCCCA	0.622000													40	190					0	0	0.268233	0	0
DNAJC6	9829	broad.mit.edu	37	1	65860637	65860637	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:65860637G>T	ENST00000395325.3	+	13	1946	c.1789G>T	c.(1789-1791)Ggt>Tgt	p.G597C	DNAJC6_ENST00000263441.7_Missense_Mutation_p.G584C|DNAJC6_ENST00000371069.4_Missense_Mutation_p.G654C	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	597	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GGATTTGCTGGGTTCTTTTCT	0.423000													10	169					0.000673444	0.000746606	0.069234	1	0
PRUNE2	158471	broad.mit.edu	37	9	79320772	79320772	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:79320772C>T	ENST00000428286.1	-	8	6541	c.5341G>A	c.(5341-5343)Gag>Aag	p.E1781K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2140K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2140					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATCTATCTCTGGCTCAGTG	0.478000													18	86					0	0	0.234183	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139302003	139302003	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:139302003C>A	ENST00000298537.7	-	4	555	c.344G>T	c.(343-345)aGg>aTg	p.R115M	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.R65M|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.R138M	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	138						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CAGGGAATGCCTCGAGGCTTC	0.512000													6	19					3.59834e-05	4.15797e-05	0.217242	1	0
GLMN	11146	broad.mit.edu	37	1	92755852	92755852	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:92755852T>C	ENST00000370360.3	-	5	378	c.297A>G	c.(295-297)ccA>ccG	p.P99P	GLMN_ENST00000534881.1_Silent_p.P99P	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	99					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ATAATTCCTTTGGATTGCATA	0.323000									Multiple Glomus Tumors (of the Skin), Familial				24	57					0	0	0.099896	0	0
KMT2C	58508	broad.mit.edu	37	7	151878782	151878782	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:151878782C>A	ENST00000355193.2	-	36	6381	c.6163G>T	c.(6163-6165)Gat>Tat	p.D2055Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.D2055Y					lysine (K)-specific methyltransferase 2C																		CCATAAGGATCCTGAGAGGAT	0.458000													21	94					5.35356e-11	7.48261e-11	0.264190	1	0
SLC30A10	55532	broad.mit.edu	37	1	220101717	220101717	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:220101717G>C	ENST00000366926.3	-	1	227	c.66C>G	c.(64-66)ttC>ttG	p.F22L	SLC30A10_ENST00000536446.1_Intron|SLC30A10_ENST00000536992.1_Missense_Mutation_p.F22L	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	22					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCTCCGCCACGAAGAAGGCGA	0.677000													4	26					0	0	0.184627	0	0
C9orf96	169436	broad.mit.edu	37	9	136268870	136268870	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:136268870C>A	ENST00000371957.3	+	15	1628	c.1521C>A	c.(1519-1521)atC>atA	p.I507I	C9orf96_ENST00000371955.1_Silent_p.I40I	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	507							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGGACCTCATCAGCCAGGTGT	0.632000													5	27					0.0293803	0.0303848	0.248553	1	0
RYR1	6261	broad.mit.edu	37	19	39034245	39034245	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:39034245C>G	ENST00000355481.4	+	85	11968	c.11837C>G	c.(11836-11838)tCc>tGc	p.S3946C	RYR1_ENST00000360985.3_Missense_Mutation_p.S3946C|RYR1_ENST00000359596.3_Missense_Mutation_p.S3951C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3951					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAACTTCTCCAAAGCCATG	0.602000													8	98					0	0	0.058154	0	0
CDH10	1008	broad.mit.edu	37	5	24593554	24593554	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:24593554G>T	ENST00000264463.4	-	2	553	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	16					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AAATGTGGCAGGCATACCCAG	0.403000										HNSCC(23;0.051)			5	86					1.23904e-05	1.45557e-05	0.184627	1	0
RANBP3L	202151	broad.mit.edu	37	5	36255669	36255669	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:36255669G>A	ENST00000296604.3	-	11	1412	c.927C>T	c.(925-927)ttC>ttT	p.F309F	RANBP3L_ENST00000502994.1_Silent_p.F334F	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	309	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TTGTTTTGTTGAATATGAAAA	0.323000													9	105					0	0	0.080935	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508275	106508275	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:106508275G>T	ENST00000359195.3	+	2	579	c.269G>T	c.(268-270)cGg>cTg	p.R90L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R90L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R90L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	90					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TTCTACCACCGGCTGGGACCG	0.642000													6	37					0.217242	0.220101	0.217242	1	0
ZNF135	7694	broad.mit.edu	37	19	58578438	58578438	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:58578438A>G	ENST00000506786.1	+	5	1014	c.460A>G	c.(460-462)Agg>Ggg	p.R154G	ZNF135_ENST00000401053.4_Missense_Mutation_p.R220G|ZNF135_ENST00000511556.1_Missense_Mutation_p.R208G|ZNF135_ENST00000359978.6_Missense_Mutation_p.R208G|ZNF135_ENST00000439855.2_Missense_Mutation_p.R196G|ZNF135_ENST00000313434.5_Missense_Mutation_p.R196G			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	208					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGTGGAAAAAGGGAGAAGCC	0.458000													3	67					0	0	0.115264	0	0
SSTR1	6751	broad.mit.edu	37	14	38678666	38678666	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:38678666C>A	ENST00000267377.2	+	3	689	c.72C>A	c.(70-72)ggC>ggA	p.G24G		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	24					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCGGCGAAGGCGGCGGCAGCA	0.736000													4	22					0.00909568	0.00970282	0.150653	1	0
PBLD	64081	broad.mit.edu	37	10	70045148	70045148	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:70045148G>C	ENST00000358769.2	-	9	913	c.711C>G	c.(709-711)ctC>ctG	p.L237L	PBLD_ENST00000432941.1_Silent_p.L237L|PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Silent_p.L204L|PBLD_ENST00000309049.4_Silent_p.L237L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	237					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGTAGCTGCTGAGAACAGCGT	0.418000													6	125					0	0	0.058154	0	0
OR2L13	284521	broad.mit.edu	37	1	248262789	248262789	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:248262789T>A	ENST00000366478.2	+	3	449	c.112T>A	c.(112-114)Tcg>Acg	p.S38T	OR2L13_ENST00000358120.2_Missense_Mutation_p.S38T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTTTCTGGCCTCGGTGGGTAA	0.463000													27	166					0	0	0.144211	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906057	164906057	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:164906057C>A	ENST00000475390.1	-	2	3005	c.2562G>T	c.(2560-2562)ggG>ggT	p.G854G	SLITRK3_ENST00000241274.3_Silent_p.G854G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	854						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAAGTCTCCCCCAGTTCCCC	0.567000										HNSCC(40;0.11)			21	167					1.39806e-14	2.04164e-14	0.134883	1	0
NCL	4691	broad.mit.edu	37	2	232326365	232326365	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:232326365C>T	ENST00000322723.4	-	3	739	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	167	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ATTtcatcttcatcctcatcc	0.507000													5	23					0	0	0.184627	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38689157	38689157	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:38689157G>C	ENST00000222345.6	+	19	5478	c.4969G>C	c.(4969-4971)Gcc>Ccc	p.A1657P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1657					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGAACGCAGCCAAGGCATA	0.677000													6	63					0	0	0.248553	0	0
EXOC3	11336	broad.mit.edu	37	5	453717	453717	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:453717G>T	ENST00000512944.1	+	4	786	c.597G>T	c.(595-597)ctG>ctT	p.L199L	EXOC3_ENST00000315013.5_Silent_p.L199L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	210					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGAGGTCACTGGTCACTGTCC	0.542000													7	90					5.18039e-06	6.1887e-06	0.278610	1	0
GRIN1	2902	broad.mit.edu	37	9	140034044	140034044	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:140034044C>G	ENST00000371561.3	+	1	1203	c.106C>G	c.(106-108)Cgg>Ggg	p.R36G	GRIN1_ENST00000371559.4_Missense_Mutation_p.R36G|GRIN1_ENST00000371560.3_Missense_Mutation_p.R36G|GRIN1_ENST00000371546.4_Missense_Mutation_p.R36G|GRIN1_ENST00000371550.4_Missense_Mutation_p.R36G|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.R36G|GRIN1_ENST00000315048.3_Missense_Mutation_p.R36G|GRIN1_ENST00000350902.5_Missense_Mutation_p.R36G|GRIN1_ENST00000371555.4_Missense_Mutation_p.R36G	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	36					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTGAGCACGCGGAAGCACGA	0.652000													7	60					0	0	0.047766	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95158105	95158105	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:95158105G>C	ENST00000354268.4	+	5	613	c.540G>C	c.(538-540)ttG>ttC	p.L180F	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.L180F			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	180	CUE 1.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCTGTTAGTTGATTGAATCAA	0.313000													8	97					0	0	0.069234	0	0
FAM71B	153745	broad.mit.edu	37	5	156589768	156589768	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:156589768C>T	ENST00000302938.4	-	2	1603	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	503						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGGTGGAGCTGTGGGTGGA	0.483000													15	75					0	0	0.160694	0	0
SYTL3	94120	broad.mit.edu	37	6	159184495	159184495	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:159184495C>G	ENST00000297239.9	+	16	1871	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	SYTL3_ENST00000367081.3_Silent_p.L285L|SYTL3_ENST00000360448.3_Silent_p.L491L			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	559	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATCAGGCCCTCTTTGGAATGA	0.493000													4	108					0	0	0.150653	0	0
OR1L4	254973	broad.mit.edu	37	9	125486685	125486685	+	Silent	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:125486685A>G	ENST00000259466.1	+	1	417	c.417A>G	c.(415-417)ccA>ccG	p.P139P		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TTATGAAACCATGGCATTGCC	0.522000													17	222					0	0	0.175082	0	0
MTA2	9219	broad.mit.edu	37	11	62368108	62368108	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:62368108C>G	ENST00000278823.2	-	2	471	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	28	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TTGAGCTCCTCAATCCGTCTA	0.507000													3	49					0	0	0.217242	0	0
STMN4	81551	broad.mit.edu	37	8	27098676	27098676	+	Silent	SNP	G	G	T	rs117681806	byFrequency	TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:27098676G>T	ENST00000350889.4	-	5	407	c.294C>A	c.(292-294)ccC>ccA	p.P98P	STMN4_ENST00000265770.7_Silent_p.P71P|STMN4_ENST00000522908.1_Silent_p.P98P|STMN4_ENST00000523048.1_Silent_p.P98P|STMN4_ENST00000519614.1_Silent_p.P71P|STMN4_ENST00000519997.1_Silent_p.P62P	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	71					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		CATCAAAGGAGGGTGGCTTCA	0.552000													11	92					6.40141e-05	7.32702e-05	0.080935	1	0
CHMP7	91782	broad.mit.edu	37	8	23115956	23115956	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:23115956T>A	ENST00000397677.1	+	7	1602	c.954T>A	c.(952-954)gaT>gaA	p.D318E	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.D318E	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	318					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CCCAGACAGATCAGATGGTAG	0.567000													22	249					0	0	0.153744	0	0
CCDC129	223075	broad.mit.edu	37	7	31683082	31683082	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:31683082C>G	ENST00000319386.3	+	11	2647	c.1654C>G	c.(1654-1656)Cta>Gta	p.L552V	CCDC129_ENST00000451887.2_Missense_Mutation_p.L726V|CCDC129_ENST00000407970.3_Missense_Mutation_p.L700V|CCDC129_ENST00000409210.1_Missense_Mutation_p.L608V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	700								p.L700V(1)|p.L552V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAACCTTCCTCTAAATACTGG	0.552000													6	33					0	0	0.248553	0	0
ATM	472	broad.mit.edu	37	11	108115594	108115594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:108115594C>T	ENST00000278616.4	+	7	1127	c.742C>T	c.(742-744)Cga>Tga	p.R248*	ATM_ENST00000452508.2_Nonsense_Mutation_p.R248*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	248					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTCAACTTTCGAATTCGAGT	0.353000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			7	95					0	0	0.047766	0	0
UBOX5	22888	broad.mit.edu	37	20	3102954	3102954	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:3102954C>T	ENST00000217173.2	-	3	802	c.331G>A	c.(331-333)Gac>Aac	p.D111N	UBOX5_ENST00000348031.2_Missense_Mutation_p.D111N|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1	O94941	RNF37_HUMAN	U-box domain containing 5	111						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GCCTCCTTGTCTGGGACAGAT	0.572000													10	91					0	0	0.093190	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724960	7724960	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:7724960G>T	ENST00000303635.7	+	9	2560	c.2353G>T	c.(2353-2355)Ggg>Tgg	p.G785W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G785W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			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)		CTCCGTGGAGGGGGGCAGCAG	0.632000			T	WWTR1	epitheliod hemangioendothelioma								33	355					4.01765e-15	5.91818e-15	0.279185	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906234	164906234	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:164906234C>T	ENST00000475390.1	-	2	2828	c.2385G>A	c.(2383-2385)gaG>gaA	p.E795E	SLITRK3_ENST00000241274.3_Silent_p.E795E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	795						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGCAAACTGCTCACTTCCTA	0.557000										HNSCC(40;0.11)			20	128					0	0	0.279207	0	0
DLEU7	220107	broad.mit.edu	37	13	51417435	51417435	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:51417435C>T	ENST00000400393.3	-	1	640	c.348G>A	c.(346-348)gcG>gcA	p.A116A	DLEU7-AS1_ENST00000413510.2_RNA|DLEU7_ENST00000504404.1_Silent_p.A116A	NM_198989.2	NP_945340.2	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	116													Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		CGCTGCGCATCGCCATCTGGG	0.721000													4	18					0	0	0.184627	0	0
PTPRC	5788	broad.mit.edu	37	1	198691560	198691560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:198691560G>T	ENST00000367376.2	+	15	1840	c.1669G>T	c.(1669-1671)Gga>Tga	p.G557*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.G509*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.G396*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.G398*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.G559*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	557	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTTCACAATGGAGACTATCC	0.229000													9	146					1.49906e-05	1.75616e-05	0.119110	1	0
CPOX	1371	broad.mit.edu	37	3	98307610	98307610	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:98307610C>T	ENST00000264193.2	-	4	1118	c.900G>A	c.(898-900)ctG>ctA	p.L300L		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	300						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AAGCCTCCTTCAGAGTTCTGT	0.423000													14	67					0	0	0.105934	0	0
STAR	6770	broad.mit.edu	37	8	38003950	38003950	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:38003950C>T	ENST00000276449.4	-	4	768	c.322G>A	c.(322-324)Gtg>Atg	p.V108M		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	108	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TTACTCATCACTTTGTCCCCA	0.547000													3	45					0	0	0.150653	0	0
SPAG5	10615	broad.mit.edu	37	17	26911463	26911463	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:26911463C>T	ENST00000321765.5	-	12	2529	c.2197G>A	c.(2197-2199)Gac>Aac	p.D733N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	733	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGCTGGCTGTCCATGTTGGCC	0.502000													40	189					0	0	0.139131	0	0
PAFAH1B3	5050	broad.mit.edu	37	19	42801244	42801244	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:42801244C>T	ENST00000538771.1	-	6	1038	c.682G>A	c.(682-684)Gag>Aag	p.E228K	PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.E228K	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	228					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				GGTGCGGGCTCCAGCAGGGGA	0.592000													6	201					0	0	0.217242	0	0
ZNF57	126295	broad.mit.edu	37	19	2917793	2917793	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:2917793T>C	ENST00000306908.5	+	4	1322	c.1174T>C	c.(1174-1176)Tat>Cat	p.Y392H	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.Y360H	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCTATAAATGTGA	0.438000													3	86					0	0	0.248553	0	0
PTCD2	79810	broad.mit.edu	37	5	71654149	71654149	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:71654149C>T	ENST00000380639.5	+	10	1078	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Silent_p.L245L|PTCD2_ENST00000536805.1_Silent_p.L182L	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	354										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATGCTGTGCTCTGCCACACCC	0.537000													8	67					0	0	0.058154	0	0
PRRX2	51450	broad.mit.edu	37	9	132484531	132484531	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:132484531C>A	ENST00000372469.4	+	4	889	c.662C>A	c.(661-663)cCc>cAc	p.P221H		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	221						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGCTCAGGCCCCGCAACCCCA	0.632000													11	65					1.61879e-10	2.22223e-10	0.093190	1	0
FBN2	2201	broad.mit.edu	37	5	127610310	127610310	+	Missense_Mutation	SNP	A	A	T	rs151053868		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:127610310A>T	ENST00000508053.1	-	66	8634	c.7660T>A	c.(7660-7662)Ttt>Att	p.F2554I	FBN2_ENST00000262464.4_Missense_Mutation_p.F2554I			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGG	0.418000													11	160					0	0	0.132662	0	0
PTGIS	5740	broad.mit.edu	37	20	48156218	48156218	+	Missense_Mutation	SNP	G	G	T	rs145481145	by1000genomes	TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:48156218G>T	ENST00000244043.4	-	5	591	c.562C>A	c.(562-564)Cgc>Agc	p.R188S	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	188					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCATGGGTGCGTGGCAGCGCC	0.642000													3	28					0.00909568	0.00970282	0.150653	1	0
LSM2	57819	broad.mit.edu	37	6	31773871	31773871	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:31773871C>A	ENST00000375661.5	-	2	278	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	18					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						TTCTTTAGTTCCACGACCACA	0.488000													4	54					0.014758	0.015528	0.184627	1	0
CNST	163882	broad.mit.edu	37	1	246755177	246755177	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:246755177G>T	ENST00000366513.4	+	2	582	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.D105Y	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	105					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CTTGGGAAAGGACAAAAAAAT	0.413000													5	34					0.0381472	0.0394033	0.278610	1	0
UBE3B	89910	broad.mit.edu	37	12	109948150	109948150	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:109948150G>T	ENST00000342494.3	+	17	2338	c.1741_splice	c.e17-1	p.E581_splice	UBE3B_ENST00000434735.2_Splice_Site_p.E581_splice|UBE3B_ENST00000280774.5_Splice_Site_p.E581_splice|UBE3B_ENST00000535900.1_3'UTR	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	581					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTCCCACAGAGAACGCCAAGG	0.582000													7	17					0.0477658	0.0492784	0.047766	1	0
FLG	2312	broad.mit.edu	37	1	152286394	152286394	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:152286394C>A	ENST00000368799.1	-	3	1003	c.968G>T	c.(967-969)gGa>gTa	p.G323V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	323	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACGCAGATCCATGATGGTT	0.557000									Ichthyosis				62	209					4.10029e-35	6.50364e-35	0.139131	1	0
GBA	2629	broad.mit.edu	37	1	155206055	155206055	+	Missense_Mutation	SNP	T	T	C	rs76228122		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:155206055T>C	ENST00000428024.2	-	7	1446	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	GBA_ENST00000427500.2_Missense_Mutation_p.Y353C|GBA_ENST00000368373.3_Missense_Mutation_p.Y402C|GBA_ENST00000536770.1_Missense_Mutation_p.Y289C|GBA_ENST00000327247.5_Missense_Mutation_p.Y402C	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	402					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GCTGTGGCTGTACTGCATCCC	0.562000									Gaucher disease type I				6	40					0	0	0.278610	0	0
LPL	4023	broad.mit.edu	37	8	19809383	19809383	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:19809383A>T	ENST00000311322.8	+	3	823	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	118					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TCACGGGCTCAGGAGCATTAC	0.537000													11	94					0	0	0.093190	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545653	179545653	+	Missense_Mutation	SNP	C	C	T	rs146808625		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:179545653C>T	ENST00000393371.2	-	9	1335	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.G347R|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.G196R			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	347	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCCGCCCCGCGCAGGGCT	0.677000													4	92					0	0	0.184627	0	0
DCTN5	84516	broad.mit.edu	37	16	23677036	23677036	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:23677036C>T	ENST00000300087.2	+	5	589	c.438C>T	c.(436-438)ttC>ttT	p.F146F	DCTN5_ENST00000568589.1_Silent_p.F146F|DCTN5_ENST00000563998.1_Silent_p.F146F	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	146						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TCACTGTCTTCTCAGGCTGCC	0.398000													11	65					0	0	0.132662	0	0
RNF17	56163	broad.mit.edu	37	13	25353861	25353861	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:25353861C>T	ENST00000255324.5	+	5	538	c.486C>T	c.(484-486)ttC>ttT	p.F162F	RNF17_ENST00000255325.5_Silent_p.F162F|RNF17_ENST00000381921.1_Silent_p.F162F|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	162					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCATAGTTTCGAACAGTTAA	0.348000													19	69					0	0	0.279207	0	0
AFAP1	60312	broad.mit.edu	37	4	7844972	7844972	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:7844972G>A	ENST00000420658.1	-	5	712	c.440C>T	c.(439-441)tCc>tTc	p.S147F	AFAP1_ENST00000358461.2_Missense_Mutation_p.S147F|AFAP1_ENST00000360265.4_Missense_Mutation_p.S147F|AFAP1_ENST00000382543.3_Missense_Mutation_p.S147F	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	147						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CAGGTCCATGGAGGCCTCCTC	0.567000													4	44					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9064272	9064272	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:9064272G>C	ENST00000397910.4	-	3	23377	c.23174C>G	c.(23173-23175)cCg>cGg	p.P7725R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7727	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTCGCCGGGCCAGAGGT	0.517000													12	69					0	0	0.093190	0	0
RFX6	222546	broad.mit.edu	37	6	117246651	117246651	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:117246651T>G	ENST00000332958.2	+	16	1730	c.1714T>G	c.(1714-1716)Tca>Gca	p.S572A		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	572					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCTCCGAGTTCATGCTTTCT	0.448000													35	113					0	0	0.139131	0	0
SCAND3	114821	broad.mit.edu	37	6	28539827	28539827	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:28539827C>A	ENST00000452236.2	-	4	4456	c.3839G>T	c.(3838-3840)gGa>gTa	p.G1280V		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1280					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agtagagaatccggtctcaca	0.358000													9	49					0.00621372	0.00667896	0.058154	1	0
LGR6	59352	broad.mit.edu	37	1	202273698	202273698	+	Missense_Mutation	SNP	G	G	T	rs111928234	byFrequency	TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:202273698G>T	ENST00000367278.3	+	11	1099	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	LGR6_ENST00000255432.7_Missense_Mutation_p.R285L|LGR6_ENST00000439764.2_Missense_Mutation_p.R198L|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	337						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ACCCTGACCCGCGCAGGCATC	0.632000													8	65					4.68919e-08	6.01779e-08	0.069234	1	0
SP3	6670	broad.mit.edu	37	2	174820696	174820696	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:174820696G>C	ENST00000310015.6	-	4	1074	c.544C>G	c.(544-546)Cag>Gag	p.Q182E	SP3_ENST00000455789.2_Missense_Mutation_p.Q129E|SP3_ENST00000418194.2_Missense_Mutation_p.Q114E	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	182	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGAACCTGCTGACCATCTGCT	0.403000													14	356					0	0	0.146539	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608763	33608763	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:33608763A>T	ENST00000170564.2	+	16	2543	c.2229A>T	c.(2227-2229)gaA>gaT	p.E743D		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	743						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CACAGGCTGAAGGAGAAGGGA	0.498000													13	79					0	0	0.146539	0	0
ZNF454	285676	broad.mit.edu	37	5	178391899	178391899	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:178391899G>C	ENST00000320129.3	+	5	797	c.494G>C	c.(493-495)aGt>aCt	p.S165T	ZNF454_ENST00000519564.1_Missense_Mutation_p.S165T	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCTCTTCACAGTGATCAAAGT	0.448000													6	66					0	0	0.278610	0	0
PCNX	22990	broad.mit.edu	37	14	71444691	71444691	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:71444691C>A	ENST00000304743.2	+	6	2083	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	PCNX_ENST00000439984.3_Missense_Mutation_p.S546Y|PCNX_ENST00000238570.5_Missense_Mutation_p.S546Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	546						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGACCTAAATCTTCTAGCGTA	0.468000													13	154					6.53275e-17	9.88079e-17	0.119110	1	0
CCDC149	91050	broad.mit.edu	37	4	24838082	24838082	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:24838082C>G	ENST00000504487.1	-	7	717	c.711G>C	c.(709-711)ttG>ttC	p.L237F	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000389609.4_Missense_Mutation_p.L237F|CCDC149_ENST00000428116.2_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	237										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TGTTTGATTTCAAGAGGTTGA	0.343000													7	134					0	0	0.058154	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45504022	45504022	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr21:45504022A>G	ENST00000291574.4	+	15	2433	c.2258A>G	c.(2257-2259)tAt>tGt	p.Y753C		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	753					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CCTGGAACGTATACACTCAGG	0.572000													8	39					0	0	0.047766	0	0
AKAP4	8852	broad.mit.edu	37	X	49962199	49962199	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:49962199T>A	ENST00000376056.2	-	3	293	c.143A>T	c.(142-144)tAc>tTc	p.Y48F	AKAP4_ENST00000358526.2_Missense_Mutation_p.Y57F|AKAP4_ENST00000376058.2_Missense_Mutation_p.Y48F|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.Y48F			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	57					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACGCACCTTGTAATCTTTATC	0.423000													15	28					0	0	0.219247	0	0
CSTF3	1479	broad.mit.edu	37	11	33123761	33123761	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:33123761G>T	ENST00000323959.4	-	10	927	c.788C>A	c.(787-789)cCt>cAt	p.P263H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	263					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTACGAAGAGGGTTGCTCTT	0.438000													13	58					1.52009e-12	2.17119e-12	0.132662	1	0
RHOBTB3	22836	broad.mit.edu	37	5	95103838	95103838	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:95103838C>A	ENST00000379982.3	+	8	1758	c.1250C>A	c.(1249-1251)cCg>cAg	p.P417Q	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.P48Q	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	417					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CTTAATAAGCCGATGCTTGCC	0.338000													5	88					3.59834e-05	4.15797e-05	0.217242	1	0
GPR26	2849	broad.mit.edu	37	10	125426523	125426523	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:125426523C>T	ENST00000284674.1	+	1	653	c.600C>T	c.(598-600)cgC>cgT	p.R200R		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	200					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGGTGGCCCGCTTCCATTGCA	0.622000													6	12					0	0	0.217242	0	0
RBM14	10432	broad.mit.edu	37	11	66392097	66392097	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:66392097G>T	ENST00000310137.4	+	2	889	c.750G>T	c.(748-750)agG>agT	p.R250S	RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14_ENST00000409738.4_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	250	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGCCTACAGGGCCCAGCCTT	0.657000													19	99					3.83957e-06	4.59988e-06	0.264190	1	0
NOP56	10528	broad.mit.edu	37	20	2635587	2635587	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:2635587G>A	ENST00000329276.5	+	5	1079	c.563G>A	c.(562-564)cGt>cAt	p.R188H		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	188					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TTCTCTATGCGTGTCAGGTAA	0.463000													16	108					0	0	0.175082	0	0
OR5P3	120066	broad.mit.edu	37	11	7847133	7847133	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:7847133G>A	ENST00000328375.1	-	1	386	c.387C>T	c.(385-387)ccC>ccT	p.P129P	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTAGAGCAGGGGTGAGCAGA	0.552000													20	110					0	0	0.264190	0	0
GPR146	115330	broad.mit.edu	37	7	1098037	1098037	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:1098037T>C	ENST00000397095.1	+	2	1109	c.886T>C	c.(886-888)Tac>Cac	p.Y296H	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000357429.6_Intron|GPR146_ENST00000297468.3_Missense_Mutation_p.Y296H|C7orf50_ENST00000397100.2_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	296						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		ACCACTTCTCTACCGCTACAT	0.587000													7	96					0	0	0.058154	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125204435	125204435	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:125204435A>T	ENST00000431078.1	+	6	1203	c.839A>T	c.(838-840)cAg>cTg	p.Q280L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	280	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTGGGCAAGCAGGTGAACTTC	0.597000													25	110					0	0	0.203993	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612178	42612178	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:42612178G>T	ENST00000276410.2	-	4	622	c.267C>A	c.(265-267)atC>atA	p.I89I	CHRNA6_ENST00000534622.1_Silent_p.I74I|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	89						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AATCATTCCAGATCTAAAATA	0.433000													5	47					0.00198382	0.00216254	0.248553	1	0
SP4	6671	broad.mit.edu	37	7	21516765	21516765	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:21516765G>T	ENST00000222584.3	+	4	1965	c.1747G>T	c.(1747-1749)Gga>Tga	p.G583*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	583					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGTAGCAGTTGGAGGAATTGC	0.438000													8	56					9.70103e-10	1.30012e-09	0.069234	1	0
DOPEY2	9980	broad.mit.edu	37	21	37581080	37581080	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr21:37581080G>T	ENST00000399151.3	+	5	644	c.559G>T	c.(559-561)Ggg>Tgg	p.G187W	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	187					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGCCCTCTGGGGGAGCGTCCT	0.612000													22	65					2.39556e-15	3.53492e-15	0.264190	1	0
ID1	3397	broad.mit.edu	37	20	30193254	30193254	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:30193254G>T	ENST00000376105.3	+	1	163	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	ID1_ENST00000376112.3_Missense_Mutation_p.G22C	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	22					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GCTGAAGGCCGGCAAGACAGC	0.711000													5	22					0.014758	0.015528	0.184627	1	0
MAT2A	4144	broad.mit.edu	37	2	85769041	85769041	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:85769041A>T	ENST00000306434.3	+	5	618	c.495A>T	c.(493-495)gcA>gcT	p.A165A	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Silent_p.A102A	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	165					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CCAAACTGGCAGAACTACGCC	0.418000													12	75					0	0	0.080935	0	0
ROBO2	6092	broad.mit.edu	37	3	77651500	77651500	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:77651500C>A	ENST00000461745.1	+	20	3894	c.2994C>A	c.(2992-2994)gcC>gcA	p.A998A	ROBO2_ENST00000332191.8_Silent_p.A998A|ROBO2_ENST00000487694.3_Silent_p.A1014A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	998					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCCCATATGCCACGACACAGA	0.438000													13	43					0.000308642	0.000345793	0.132662	1	0
MDC1	9656	broad.mit.edu	37	6	30673208	30673208	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:30673208T>C	ENST00000376406.3	-	10	4399	c.3752A>G	c.(3751-3753)cAg>cGg	p.Q1251R	MDC1_ENST00000376405.2_Missense_Mutation_p.Q987R|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1251	Interaction with the PRKDC complex.|Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGTGGAAGGCTGGAGCTCAGG	0.527000								Other conserved DNA damage response genes					6	320					0	0	0.248553	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723867	38723867	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:38723867G>T	ENST00000342213.2	-	1	1707	c.1361C>A	c.(1360-1362)tCc>tAc	p.S454Y		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	454						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGCAGAACTGGAGCCCAAAGC	0.602000													6	80					2.17888e-05	2.53504e-05	0.058154	1	0
PCDHGB3	56102	broad.mit.edu	37	5	140750407	140750407	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140750407G>C	ENST00000576222.1	+	1	577	c.446G>C	c.(445-447)gGa>gCa	p.G149A	PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTCACTGGAGCCACATTT	0.478000													24	199					0	0	0.279207	0	0
FAM69C	125704	broad.mit.edu	37	18	72103819	72103819	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:72103819G>T	ENST00000343998.6	-	4	1185	c.1177C>A	c.(1177-1179)Cgg>Agg	p.R393R	FAM69C_ENST00000400291.2_Silent_p.R94R	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	393						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						GCTGCTCTCCGGGTGTTCCCA	0.607000													5	25					1.23904e-05	1.45557e-05	0.184627	1	0
PRSS55	203074	broad.mit.edu	37	8	10396100	10396100	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:10396100A>G	ENST00000328655.3	+	5	896	c.856A>G	c.(856-858)Acc>Gcc	p.T286A	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	286	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGGGATATACACCTCGTTGGT	0.537000													10	85					0	0	0.105934	0	0
WASF3	10810	broad.mit.edu	37	13	27259895	27259895	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:27259895G>T	ENST00000361042.4	+	10	1638	c.1413G>T	c.(1411-1413)gtG>gtT	p.V471V	WASF3_ENST00000335327.5_Silent_p.V474V			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	474					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GGAATGACGTGGCCACGATCC	0.597000													9	51					0.00621372	0.00667896	0.058154	1	0
SLC4A3	6508	broad.mit.edu	37	2	220501108	220501108	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:220501108C>G	ENST00000358055.3	+	15	2788	c.2276C>G	c.(2275-2277)gCt>gGt	p.A759G	SLC4A3_ENST00000373760.2_Missense_Mutation_p.A759G|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A759G|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A786G|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A786G			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	759	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGCTGGGAGCTCAGCCGCTG	0.617000													12	59					0	0	0.093190	0	0
TMEM170A	124491	broad.mit.edu	37	16	75498464	75498464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:75498464G>T	ENST00000357613.4	-	1	123	c.35C>A	c.(34-36)tCg>tAg	p.S12*	TMEM170A_ENST00000567796.1_Intron|RP11-77K12.1_ENST00000567194.1_Nonsense_Mutation_p.S12*|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000561878.1_Nonsense_Mutation_p.S12*|TMEM170A_ENST00000569276.1_Nonsense_Mutation_p.S12*			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	12						integral to membrane				endometrium(1)	1						GAGCCCGGCCGACCCGCCGCT	0.692000											OREG0023945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	27					0.000602214	0.00067027	0.184627	1	0
LRGUK	136332	broad.mit.edu	37	7	133861753	133861753	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:133861753G>A	ENST00000285928.2	+	9	1114	c.1045G>A	c.(1045-1047)Gta>Ata	p.V349I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	349	LRRCT.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTGGTTCTTCGTAATTTTTAT	0.333000													11	114					0	0	0.105934	0	0
PKD2	5311	broad.mit.edu	37	4	88959544	88959544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:88959544G>T	ENST00000237596.2	+	4	1051	c.985G>T	c.(985-987)Gga>Tga	p.G329*		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	329						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGTCAGAAATGGATCCTGCTC	0.493000													12	47					2.68362e-12	3.82021e-12	0.093190	1	0
NCL	4691	broad.mit.edu	37	2	232325213	232325213	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:232325213C>T	ENST00000322723.4	-	5	1114	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	292					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTCTTGGCTTCAGGAGCTGCT	0.413000													6	129					0	0	0.248553	0	0
WDR5	11091	broad.mit.edu	37	9	137007537	137007537	+	Nonsense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:137007537C>G	ENST00000358625.3	+	6	608	c.437C>G	c.(436-438)tCa>tGa	p.S146*	WDR5_ENST00000425041.1_Nonsense_Mutation_p.S146*	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	146					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		CTTATTGTCTCAGGATCCGTA	0.488000													11	82					0	0	0.093190	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220386273	220386273	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:220386273C>G	ENST00000358951.2	-	4	458	c.342G>C	c.(340-342)atG>atC	p.M114I		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	114					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGCAAATTGCATTTCTTCCT	0.294000													9	72					0	0	0.080935	0	0
BMX	660	broad.mit.edu	37	X	15560166	15560166	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:15560166T>C	ENST00000357607.2	+	15	1644	c.1456T>C	c.(1456-1458)Tac>Cac	p.Y486H	BMX_ENST00000348343.6_Missense_Mutation_p.Y486H|BMX_ENST00000342014.6_Missense_Mutation_p.Y486H			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	486	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					ATACCCCATATACATAGTGAC	0.413000													18	122					0	0	0.219247	0	0
CUBN	8029	broad.mit.edu	37	10	17032352	17032352	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:17032352C>A	ENST00000377833.4	-	29	4396	c.4331G>T	c.(4330-4332)tGc>tTc	p.C1444F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1444	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAAAGTTGCACCTTGAATG	0.453000													30	142					1.59361e-14	2.31922e-14	0.246493	1	0
CES5A	221223	broad.mit.edu	37	16	55903601	55903601	+	Missense_Mutation	SNP	T	T	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:55903601T>G	ENST00000521992.1	-	5	705	c.560A>C	c.(559-561)gAt>gCt	p.D187A	CES5A_ENST00000290567.9_Missense_Mutation_p.D158A|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Missense_Mutation_p.D52A|CES5A_ENST00000319165.9_Missense_Mutation_p.D158A|CES5A_ENST00000520435.1_Missense_Mutation_p.D128A	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	158						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGCGGACCCATCAAAGATGGA	0.567000													4	19					0	0	0.184627	0	0
ZNF611	81856	broad.mit.edu	37	19	53208615	53208615	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:53208615G>C	ENST00000543227.1	-	6	1967	c.1693C>G	c.(1693-1695)Cct>Gct	p.P565A	ZNF611_ENST00000319783.1_Missense_Mutation_p.P565A|ZNF611_ENST00000602162.1_Missense_Mutation_p.P496A|ZNF611_ENST00000453741.2_Missense_Mutation_p.P496A|ZNF611_ENST00000595798.1_Missense_Mutation_p.P496A|ZNF611_ENST00000540744.1_Missense_Mutation_p.P565A	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		CACTTGTAAGGTTTCTCTCCA	0.398000													20	249					0	0	0.234183	0	0
PROS1	5627	broad.mit.edu	37	3	93624628	93624628	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:93624628C>A	ENST00000394236.3	-	6	917	c.601_splice	c.e6+1	p.D201_splice	PROS1_ENST00000407433.1_Splice_Site_p.D70_splice	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	201	EGF-like 3; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTGCTCTTACCTTTACAATCT	0.308000													4	40					0.00909568	0.00970282	0.150653	1	0
CSMD3	114788	broad.mit.edu	37	8	114031382	114031382	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:114031382G>T	ENST00000297405.5	-	6	1188	c.944C>A	c.(943-945)cCa>cAa	p.P315Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P315Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P275Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P315Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	315	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGATAATTGGTGGTGGTAT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	113					1.04352e-10	1.44421e-10	0.193644	1	0
IQGAP2	10788	broad.mit.edu	37	5	75979705	75979705	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:75979705G>A	ENST00000274364.6	+	30	4165	c.3868G>A	c.(3868-3870)Gac>Aac	p.D1290N	IQGAP2_ENST00000396234.3_Missense_Mutation_p.D786N|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D792N|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D786N	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1290					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGACATAGAGGACGGTGAAGC	0.408000													5	52					0	0	0.184627	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111793247	111793247	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:111793247G>A	ENST00000452346.2	+	14	1774	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.E465K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	591	LDL-receptor class A 3.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGAAGTGATGAAGAAGGCTG	0.378000													6	151					0	0	0.278610	0	0
C9	735	broad.mit.edu	37	5	39311284	39311284	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:39311284A>G	ENST00000263408.4	-	7	1161	c.1066T>C	c.(1066-1068)Tat>Cat	p.Y356H		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	356	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ATTAGTTCATAGAGTCCTCCT	0.368000													10	75					0	0	0.069234	0	0
TRBV2	28620	broad.mit.edu	37	7	142001149	142001149	+	RNA	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:142001149G>C	ENST00000455382.2	+	0	315																											TGAAATATTCGATGATCAATT	0.408000													4	12					0	0	0.150653	0	0
FOXI1	2299	broad.mit.edu	37	5	169535354	169535354	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:169535354G>C	ENST00000449804.2	+	2	636	c.591G>C	c.(589-591)ggG>ggC	p.G197G	FOXI1_ENST00000306268.6_Silent_p.G292G	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	292					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCGGGGGGAGCCCCACGA	0.632000									Pendred syndrome				3	82					0	0	0.150653	0	0
PRLHR	2834	broad.mit.edu	37	10	120353647	120353647	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:120353647G>T	ENST00000239032.2	-	2	1248	c.1110C>A	c.(1108-1110)atC>atA	p.I370I	PRLHR_ENST00000369169.1_Silent_p.I370I	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	370	Required for interaction with GRIP1, GRIP2 and PICK1.				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGTGGCATCAGATGACCACGC	0.592000													9	48					4.84862e-15	7.11746e-15	0.080935	1	0
SHPRH	257218	broad.mit.edu	37	6	146276325	146276325	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:146276325G>T	ENST00000367503.3	-	2	532	c.134C>A	c.(133-135)cCa>cAa	p.P45Q	SHPRH_ENST00000275233.7_Missense_Mutation_p.P45Q|SHPRH_ENST00000367505.2_Missense_Mutation_p.P45Q|SHPRH_ENST00000438092.2_Missense_Mutation_p.P45Q	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	45					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCTGAACCTGGGCAGGGCTG	0.438000													11	53					3.86212e-05	4.43856e-05	0.069234	1	0
BAI3	577	broad.mit.edu	37	6	69653834	69653834	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:69653834G>C	ENST00000370598.1	+	6	1964	c.1143G>C	c.(1141-1143)ccG>ccC	p.P381P		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	381	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGGAAGGCCGTGTGAAGGAC	0.438000													12	86					0	0	0.105934	0	0
FLG	2312	broad.mit.edu	37	1	152284484	152284484	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:152284484C>T	ENST00000368799.1	-	3	2913	c.2878G>A	c.(2878-2880)Gag>Aag	p.E960K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	960	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCACCTCTCAGAGTCTTCT	0.577000									Ichthyosis				35	479					0	0	0.268233	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389686	150389686	+	Silent	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:150389686A>G	ENST00000223293.5	+	3	406	c.312A>G	c.(310-312)ccA>ccG	p.P104P		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	104						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		tGTCTGCACCAGGACCCCATG	0.527000													15	39					0	0	0.146539	0	0
TTN	7273	broad.mit.edu	37	2	179569685	179569685	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:179569685C>T	ENST00000589042.1	-	104	29837	c.29613G>A	c.(29611-29613)gaG>gaA	p.E9871E	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.E8627E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.E9554E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9554	Pro-rich.						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)			TCTCTATTTCCTCAATTTCCT	0.368000													17	117					0	0	0.175082	0	0
GPR112	139378	broad.mit.edu	37	X	135432185	135432185	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:135432185C>A	ENST00000394143.1	+	6	6611	c.6320C>A	c.(6319-6321)gCa>gAa	p.A2107E	GPR112_ENST00000394141.1_Missense_Mutation_p.A1902E|GPR112_ENST00000370652.1_Missense_Mutation_p.A2107E|GPR112_ENST00000412101.1_Missense_Mutation_p.A1902E|GPR112_ENST00000287534.4_Missense_Mutation_p.A2044E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2107					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACCCTGAGGCATCCTCCAGA	0.468000													26	55					1.61788e-16	2.42539e-16	0.163468	1	0
OR2A25	392138	broad.mit.edu	37	7	143771765	143771765	+	Silent	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:143771765A>T	ENST00000408898.2	+	1	491	c.453A>T	c.(451-453)ggA>ggT	p.G151G		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGATTTTAGGAGTCTTATTGG	0.458000													39	108					0	0	0.290176	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625641	140625641	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140625641T>A	ENST00000231173.3	+	1	495	c.495T>A	c.(493-495)aaT>aaA	p.N165K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		165	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGCAGCAATAATGTTCAAA	0.473000													11	48					0	0	0.080935	0	0
SOCS2	8835	broad.mit.edu	37	12	93968830	93968830	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:93968830A>G	ENST00000340600.2	+	3	1070	c.472A>G	c.(472-474)Acg>Gcg	p.T158A	SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Missense_Mutation_p.T158A|SOCS2_ENST00000551556.1_Missense_Mutation_p.T158A|SOCS2_ENST00000549122.1_Missense_Mutation_p.T158A|SOCS2_ENST00000549206.1_Missense_Mutation_p.T158A	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	158	SOCS box.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						ACCGCTCTACACGTCAGCACC	0.493000													24	50					0	0	0.249174	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601698	31601698	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:31601698G>T	ENST00000376033.2	+	18	4885	c.4651G>T	c.(4651-4653)Gcc>Tcc	p.A1551S	PRRC2A_ENST00000376007.4_Missense_Mutation_p.A1551S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1551	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TCGGGACTCTGCCGGGGTTAG	0.592000													16	180					3.52763e-06	4.23216e-06	0.160694	1	0
LMBRD2	92255	broad.mit.edu	37	5	36143411	36143411	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:36143411A>C	ENST00000296603.4	-	2	503	c.41T>G	c.(40-42)tTt>tGt	p.F14C		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	14						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCCAGAAAAAAGACAAAAAC	0.368000													8	41					0	0	0.093190	0	0
SEMA5B	54437	broad.mit.edu	37	3	122632428	122632428	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:122632428G>T	ENST00000195173.4	-	16	2536	c.2233C>A	c.(2233-2235)Cgg>Agg	p.R745R	SEMA5B_ENST00000451055.2_Silent_p.R799R|SEMA5B_ENST00000357599.3_Silent_p.R745R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	745	TSP type-1 2.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCCCGACGCCGCGACTGCATG	0.677000													6	32					0.248553	0.251222	0.248553	1	0
OR4C13	283092	broad.mit.edu	37	11	49974221	49974221	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:49974221T>C	ENST00000555099.1	+	1	279	c.247T>C	c.(247-249)Tca>Cca	p.S83P		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GATCACAGATTCACTCTATGA	0.408000													35	189					0	0	0.214465	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43516971	43516971	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:43516971G>C	ENST00000430334.3	-	11	3064	c.2931C>G	c.(2929-2931)ctC>ctG	p.L977L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L888L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	977					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCAGGGCCTTGAGGAATCCTT	0.577000													8	90					0	0	0.047766	0	0
KRT6A	3853	broad.mit.edu	37	12	52884416	52884416	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:52884416C>A	ENST00000330722.6	-	5	1082	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	338	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CATATTGGGCCTTGACCTCAG	0.577000													67	174					1.3515e-34	2.13966e-34	0.139131	1	0
SLC26A4	5172	broad.mit.edu	37	7	107329520	107329520	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:107329520C>A	ENST00000265715.3	+	9	1248	c.1024C>A	c.(1024-1026)Cct>Act	p.P342T		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	342					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGAACTTCCACCTGTGAGCTT	0.428000									Pendred syndrome				16	150					1.02788e-11	1.45345e-11	0.160694	1	0
APMAP	57136	broad.mit.edu	37	20	24950256	24950256	+	Missense_Mutation	SNP	A	A	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:24950256A>C	ENST00000217456.2	-	7	1044	c.754T>G	c.(754-756)Tta>Gta	p.L252V	APMAP_ENST00000447138.1_Missense_Mutation_p.L252V	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		TGGTCCAATAAAACTTTTACT	0.532000													16	92					0	0	0.204396	0	0
HYDIN	54768	broad.mit.edu	37	16	71218766	71218766	+	Splice_Site	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:71218766A>T	ENST00000393567.2	-	3	412		c.e3+1		HYDIN_ENST00000541601.1_Splice_Site|HYDIN_ENST00000288168.10_Splice_Site|HYDIN_ENST00000448089.2_Splice_Site|HYDIN_ENST00000393550.2_Splice_Site|HYDIN_ENST00000448691.1_Splice_Site|HYDIN_ENST00000321489.5_Splice_Site|HYDIN_ENST00000538248.1_Splice_Site	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGAGCAGCTACCTTCTGATG	0.438000													12	123					0	0	0.175082	0	0
CLDN15	24146	broad.mit.edu	37	7	100876128	100876128	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:100876128C>T	ENST00000401528.1	-	4	1575	c.450G>A	c.(448-450)ttG>ttA	p.L150L	CLDN15_ENST00000308344.5_Silent_p.L150L	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	150					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					TTCCGGGGTACAAGGGGTCGA	0.672000													5	86					0	0	0.248553	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056402	26056402	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:26056402C>T	ENST00000343677.2	-	1	297	c.255G>A	c.(253-255)aaG>aaA	p.K85K		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	85	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCACCAGGCTCTTGAGACCAA	0.542000													20	114					0	0	0.294199	0	0
SDK1	221935	broad.mit.edu	37	7	4169646	4169646	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:4169646A>T	ENST00000404826.2	+	27	4185	c.4046A>T	c.(4045-4047)tAc>tTc	p.Y1349F	SDK1_ENST00000389531.3_Missense_Mutation_p.Y1349F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1349	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCGTGCTCTACGAGCTCCAG	0.662000													4	65					0	0	0.248553	0	0
PDZD7	79955	broad.mit.edu	37	10	102789827	102789827	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:102789827C>T	ENST00000370215.3	-	2	375	c.150G>A	c.(148-150)ctG>ctA	p.L50L	PDZD7_ENST00000470414.1_Silent_p.L50L	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	50						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCCCGTTCAGCAGCCGTTGTT	0.657000													20	98					0	0	0.108266	0	0
FUBP1	8880	broad.mit.edu	37	1	78425925	78425925	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:78425925G>A	ENST00000370767.1	-	16	1607	c.1520C>T	c.(1519-1521)cCc>cTc	p.P507L	FUBP1_ENST00000370768.2_Missense_Mutation_p.P507L|FUBP1_ENST00000436586.2_Missense_Mutation_p.P528L			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	507	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCATCCCTGGGGAGCATATGG	0.438000			"""F, N"""		oligodendroglioma								5	64					0	0	0.217242	0	0
MMP17	4326	broad.mit.edu	37	12	132323257	132323257	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:132323257C>A	ENST00000360564.1	+	3	495	c.393C>A	c.(391-393)acC>acA	p.T131T	MMP17_ENST00000535291.1_Silent_p.T47T	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	131					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CAGCCCCCACCAAGTGGAACA	0.687000													3	3					0.150653	0.153554	0.150653	1	0
TMBIM6	7009	broad.mit.edu	37	12	50153003	50153003	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:50153003G>T	ENST00000423828.1	+	8	1015		c.e8-1		TMBIM6_ENST00000549385.1_Splice_Site|TMBIM6_ENST00000552699.1_Splice_Site|TMBIM6_ENST00000547798.1_Splice_Site|TMBIM6_ENST00000395006.4_Splice_Site|TMBIM6_ENST00000267115.5_Splice_Site	NM_001098576.1	NP_001092046.1	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6						apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACATTTGTTAGGCAAACCTGT	0.383000													25	98					1.16021e-09	1.54755e-09	0.125774	1	0
NCLN	56926	broad.mit.edu	37	19	3207399	3207399	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:3207399G>A	ENST00000246117.4	+	14	1995	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T	NCLN_ENST00000590671.1_Missense_Mutation_p.A448T	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	522					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCAAGCCGGCCGTCTTTGA	0.652000													60	226					0	0	0.139131	0	0
TF	7018	broad.mit.edu	37	3	133475770	133475770	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:133475770G>T	ENST00000402696.3	+	7	1272	c.787G>T	c.(787-789)Gcc>Tcc	p.A263S	TF_ENST00000264998.3_Missense_Mutation_p.A136S	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	263	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CTGCCACTTGGCCCAGGTCCC	0.577000													18	110					2.39187e-15	3.53492e-15	0.204396	1	0
LLGL2	3993	broad.mit.edu	37	17	73554252	73554252	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:73554252G>T	ENST00000392550.3	+	4	307	c.190G>T	c.(190-192)Gtg>Ttg	p.V64L	LLGL2_ENST00000578363.1_Missense_Mutation_p.V64L|LLGL2_ENST00000167462.5_Missense_Mutation_p.V64L|LLGL2_ENST00000577200.1_Missense_Mutation_p.V64L|LLGL2_ENST00000375227.4_Missense_Mutation_p.V64L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	64					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCCCCAGGCGTGGAGTTCAT	0.652000													33	172					4.67007e-22	7.24459e-22	0.268233	1	0
SLC4A9	83697	broad.mit.edu	37	5	139743742	139743742	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:139743742T>C	ENST00000230993.6	+	10	1465	c.1430T>C	c.(1429-1431)gTc>gCc	p.V477A	SLC4A9_ENST00000506545.1_Missense_Mutation_p.V453A|SLC4A9_ENST00000506757.2_Missense_Mutation_p.V453A|SLC4A9_ENST00000507527.1_Missense_Mutation_p.V477A|SLC4A9_ENST00000432095.2_Missense_Mutation_p.V442A	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	477	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTGCTGGTCTTTGAGCGC	0.612000													8	45					0	0	0.080935	0	0
SUGP2	10147	broad.mit.edu	37	19	19136917	19136917	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:19136917C>G	ENST00000601879.1	-	3	537	c.240G>C	c.(238-240)ctG>ctC	p.L80L	SUGP2_ENST00000456085.2_5'UTR|SUGP2_ENST00000600377.1_Silent_p.L94L|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Silent_p.L80L|SUGP2_ENST00000337018.6_Silent_p.L80L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	80					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGTCACTTCTCAGGCCTTCTC	0.498000													10	61					0	0	0.105934	0	0
OR6K3	391114	broad.mit.edu	37	1	158687660	158687660	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:158687660G>C	ENST00000368146.1	-	1	293	c.294C>G	c.(292-294)ctC>ctG	p.L98L	OR6K3_ENST00000368145.1_Silent_p.L82L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TGAGGTTGGAGAGCATCTTGG	0.448000													33	195					0	0	0.235728	0	0
LZTFL1	54585	broad.mit.edu	37	3	45874568	45874568	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:45874568C>G	ENST00000296135.6	-	5	604	c.430G>C	c.(430-432)Ggt>Cgt	p.G144R	LZTFL1_ENST00000539217.1_Missense_Mutation_p.G140R|LZTFL1_ENST00000536047.1_Missense_Mutation_p.G127R|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	144										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		GCTGTTCCACCTTCATTAAGT	0.373000													6	79					0	0	0.058154	0	0
ADAM7	8756	broad.mit.edu	37	8	24365022	24365022	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:24365022C>T	ENST00000175238.6	+	21	2321	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Intron|ADAM7_ENST00000380789.1_Silent_p.I768I|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	746					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.I746I(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAAGAGGAATCGCAGATCCCA	0.388000													8	71					0	0	0.069234	0	0
ADTRP	84830	broad.mit.edu	37	6	11768563	11768563	+	Silent	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:11768563T>C	ENST00000414691.3	-	2	617	c.207A>G	c.(205-207)agA>agG	p.R69R	ADTRP_ENST00000229583.5_Silent_p.R87R|ADTRP_ENST00000379413.2_Silent_p.R69R	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	69						integral to membrane											CCCCTTTGGTTCTTTTCAGCA	0.413000													18	134					0	0	0.204396	0	0
OR2T10	127069	broad.mit.edu	37	1	248756713	248756713	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:248756713G>T	ENST00000330500.2	-	1	387	c.357C>A	c.(355-357)gcC>gcA	p.A119A		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCGGTCATAGGCCATGGCGG	0.562000													11	81					2.32078e-09	3.07622e-09	0.132662	1	0
KLK1	3816	broad.mit.edu	37	19	51325025	51325025	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:51325025C>A	ENST00000301420.2	-	2	184	c.149G>T	c.(148-150)tGt>tTt	p.C50F	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	50	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGCCCCCACACTGGAAAGT	0.632000													13	37					4.7546e-09	6.23398e-09	0.146539	1	0
LRP5	4041	broad.mit.edu	37	11	68206130	68206130	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:68206130C>G	ENST00000294304.7	+	20	4434	c.4328C>G	c.(4327-4329)tCc>tGc	p.S1443C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1443					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGGCGGTTCCCAGCATGGC	0.627000													3	43					0	0	0.115264	0	0
SUN5	140732	broad.mit.edu	37	20	31575559	31575559	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:31575559G>A	ENST00000356173.3	-	10	728	c.636C>T	c.(634-636)caC>caT	p.H212H	SUN5_ENST00000375523.3_Silent_p.H187H	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	212	SUN.				spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TGACTGACGTGTGCTCAAAGT	0.597000													6	24					0	0	0.278610	0	0
SPTBN1	6711	broad.mit.edu	37	2	54883115	54883115	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:54883115G>A	ENST00000333896.5	+	28	6372	c.5987G>A	c.(5986-5988)cGa>cAa	p.R1996Q	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R2009Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2009	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGGGAAGACCGATGGGAATGG	0.378000													15	48					0	0	0.204396	0	0
EDIL3	10085	broad.mit.edu	37	5	83402609	83402609	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:83402609G>C	ENST00000296591.5	-	6	927	c.509C>G	c.(508-510)tCa>tGa	p.S170*	EDIL3_ENST00000380138.3_Nonsense_Mutation_p.S160*	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	170	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTGCTGGTTTGATATAATTCC	0.378000													9	188					0	0	0.069234	0	0
TMCC2	9911	broad.mit.edu	37	1	205238776	205238776	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:205238776C>T	ENST00000358024.3	+	3	1835	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A	TMCC2_ENST00000330675.7_Silent_p.A257A|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Silent_p.A404A|TMCC2_ENST00000329800.7_Silent_p.A242A	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	482						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTCCAGCGCCAGCGCCAGCT	0.667000													7	54					0	0	0.278610	0	0
ZNF236	7776	broad.mit.edu	37	18	74649226	74649226	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:74649226C>T	ENST00000253159.8	+	26	4901	c.4703C>T	c.(4702-4704)aCg>aTg	p.T1568M	ZNF236_ENST00000320610.9_Missense_Mutation_p.T1570M	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1568					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCTAGTGTCACGCTGACGCTG	0.577000													7	46					0	0	0.047766	0	0
CD22	933	broad.mit.edu	37	19	35832450	35832450	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:35832450G>A	ENST00000085219.5	+	8	1778	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	CD22_ENST00000544992.2_Missense_Mutation_p.C571Y|CD22_ENST00000536635.2_Missense_Mutation_p.C483Y|CD22_ENST00000419549.2_Missense_Mutation_p.C399Y|CD22_ENST00000341773.6_Missense_Mutation_p.C394Y|CD22_ENST00000594250.1_Missense_Mutation_p.C394Y|CD22_ENST00000270311.6_Missense_Mutation_p.C451Y	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	571	Ig-like C2-type 5.				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)	AGTTACAGCTGCTGGGTGAAC	0.542000													7	125					0	0	0.278610	0	0
SAGE1	55511	broad.mit.edu	37	X	134991898	134991898	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:134991898G>C	ENST00000535938.1	+	14	1850	c.1683G>C	c.(1681-1683)ttG>ttC	p.L561F	SAGE1_ENST00000537770.1_Missense_Mutation_p.L185F|SAGE1_ENST00000324447.3_Missense_Mutation_p.L561F|SAGE1_ENST00000370709.3_Missense_Mutation_p.L561F	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	561										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTACTTATTTGACAGTAGCTG	0.418000													7	95					0	0	0.047766	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718391	46718391	+	Missense_Mutation	SNP	C	C	A	rs138602401		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:46718391C>A	ENST00000318962.4	-	17	1962	c.1879G>T	c.(1879-1881)Gtg>Ttg	p.V627L	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V627L|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	627					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GAGCTCTGCACGTCGAAGCCC	0.657000													20	95					2.70639e-06	3.26076e-06	0.249174	1	0
FMN2	56776	broad.mit.edu	37	1	240458143	240458143	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:240458143C>T	ENST00000319653.9	+	8	4405	c.4175C>T	c.(4174-4176)tCt>tTt	p.S1392F	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1392	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGGATAATTCTGTGGTTGAC	0.383000													14	68					0	0	0.219247	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	119					0	0	0.150653	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926826	92926826	+	Missense_Mutation	SNP	T	T	C	rs138218471	byFrequency	TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:92926826T>C	ENST00000373079.3	-	1	1741	c.1478A>G	c.(1477-1479)tAt>tGt	p.Y493C	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	493					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCCAAATTGATAGTAGGTACC	0.323000													9	20					0	0	0.080935	0	0
HSPA8	3312	broad.mit.edu	37	11	122931360	122931360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:122931360C>A	ENST00000534624.1	-	3	628	c.352G>T	c.(352-354)Gag>Tag	p.E118*	HSPA8_ENST00000227378.3_Nonsense_Mutation_p.E118*|HSPA8_ENST00000532636.1_Nonsense_Mutation_p.E118*|HSPA8_ENST00000526110.1_Nonsense_Mutation_p.E118*|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000453788.2_Nonsense_Mutation_p.E118*	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	118					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GAAGACACCTCCTCTGGATAG	0.468000													9	43					1.76689e-08	2.29534e-08	0.058154	1	0
ERBB4	2066	broad.mit.edu	37	2	212251617	212251617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:212251617C>A	ENST00000342788.4	-	27	3752	c.3442G>T	c.(3442-3444)Gaa>Taa	p.E1148*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E1138*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E1132*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1148					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ATGTAACCTTCCTCATCCAGC	0.502000										TSP Lung(8;0.080)			17	105					1.96292e-10	2.68161e-10	0.219247	1	0
TOR2A	27433	broad.mit.edu	37	9	130494456	130494456	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:130494456C>T	ENST00000373284.5	-	5	869	c.823G>A	c.(823-825)Gag>Aag	p.E275K	TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000336067.6_Missense_Mutation_p.R232Q	NM_001085347.2	NP_001078816.1	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	275					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						TGGGCCAGCTCGTTGAGCACG	0.627000													12	64					0	0	0.132662	0	0
WNK1	65125	broad.mit.edu	37	12	1009769	1009769	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:1009769C>G	ENST00000537687.1	+	26	7999	c.7356C>G	c.(7354-7356)gaC>gaG	p.D2452E	WNK1_ENST00000340908.4_Missense_Mutation_p.D1785E|WNK1_ENST00000535572.1_Missense_Mutation_p.D1944E|WNK1_ENST00000315939.6_Missense_Mutation_p.D2192E|WNK1_ENST00000530271.2_Missense_Mutation_p.D2690E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2192					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTCCAGTGACAACCTCTATT	0.522000													26	370					0	0	0.183431	0	0
PIGK	10026	broad.mit.edu	37	1	77632477	77632477	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:77632477C>A	ENST00000370812.3	-	5	437	c.414G>T	c.(412-414)agG>agT	p.R138S	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000370813.5_Missense_Mutation_p.R62S|PIGK_ENST00000359130.1_Missense_Mutation_p.R138S|PIGK_ENST00000445065.1_Missense_Mutation_p.R44S	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	138					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TAGGTGGGATCCTCCCAGTTA	0.338000													6	63					1.06961e-07	1.34615e-07	0.278610	1	0
SYTL4	94121	broad.mit.edu	37	X	99942238	99942238	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:99942238G>A	ENST00000455616.1	-	12	1356	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	SYTL4_ENST00000263033.5_Missense_Mutation_p.T337M|SYTL4_ENST00000372989.1_Missense_Mutation_p.T337M|SYTL4_ENST00000454200.2_Missense_Mutation_p.T339M|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.T337M			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	337					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGCCGATCGTACTCTGAAG	0.502000													10	41					0	0	0.069234	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283019	69283019	+	Silent	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:69283019A>G	ENST00000338352.2	+	1	679	c.645A>G	c.(643-645)gcA>gcG	p.A215A		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	215	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GCACCACGGCATGGGGAGGCC	0.622000													7	27					0	0	0.278610	0	0
GNAO1	2775	broad.mit.edu	37	16	56388953	56388953	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:56388953C>T	ENST00000262493.6	+	8	1899	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	351					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TCCGGGGCTGCGGCTTGTACT	0.507000													6	69					0	0	0.047766	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430773	37430773	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:37430773G>A	ENST00000374660.1	+	7	879	c.780G>A	c.(778-780)acG>acA	p.T260T	ANKRD30A_ENST00000602533.1_Silent_p.T260T|ANKRD30A_ENST00000361713.1_Silent_p.T260T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	316						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCTGACACGGCTGAAAGCT	0.493000													5	70					0	0	0.184627	0	0
KLK12	43849	broad.mit.edu	37	19	51535329	51535329	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:51535329C>T	ENST00000525263.1	-	3	379	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	KLK12_ENST00000250351.4_Missense_Mutation_p.R87Q|KLK12_ENST00000319590.4_Missense_Mutation_p.R87Q|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	87	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	p.R87Q(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCCGCTGTGCCGGATCTGCTC	0.706000													3	8					0	0	0.115264	0	0
TTN	7273	broad.mit.edu	37	2	179398357	179398357	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:179398357C>G	ENST00000589042.1	-	358	103209	c.102985G>C	c.(102985-102987)Gct>Cct	p.A34329P	TTN_ENST00000460472.2_Missense_Mutation_p.A25264P|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A31761P|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25456P|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A32688P|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25389P|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32688	Ig-like 152.						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)			GTATATTCAGCGTCATCATCT	0.408000													8	46					0	0	0.047766	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905477	144905477	+	Missense_Mutation	SNP	A	A	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:144905477A>G	ENST00000370490.1	+	1	5789	c.1534A>G	c.(1534-1536)Aaa>Gaa	p.K512E	SLITRK2_ENST00000413937.2_Missense_Mutation_p.K512E|SLITRK2_ENST00000434188.2_Missense_Mutation_p.K512E|SLITRK2_ENST00000428560.2_Missense_Mutation_p.K512E|SLITRK2_ENST00000447897.2_Missense_Mutation_p.K512E			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	512						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCGTGAAAGGGGTTCT	0.507000													4	55					0	0	0.217242	0	0
NAPSA	9476	broad.mit.edu	37	19	50865480	50865480	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:50865480G>T	ENST00000253719.2	-	2	382	c.174C>A	c.(172-174)gcC>gcA	p.A58A	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	58					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CAGGGGATGGGGCCCCCAACT	0.597000													14	48					4.7546e-09	6.23398e-09	0.146539	1	0
RRAGC	64121	broad.mit.edu	37	1	39322640	39322640	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:39322640G>C	ENST00000373001.3	-	2	528	c.352C>G	c.(352-354)Cct>Gct	p.P118A		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	118					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				ATTTGCCCAGGAAAATCCCAT	0.413000													24	162					0	0	0.108266	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890057	88890057	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:88890057C>G	ENST00000303236.3	-	6	1370	c.1069G>C	c.(1069-1071)Gat>Cat	p.D357H	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D206H	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	357					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CTTGTATCATCAAAAAGACTG	0.353000													3	45					0	0	0.115264	0	0
SPATA22	84690	broad.mit.edu	37	17	3343523	3343523	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:3343523G>T	ENST00000573128.1	-	9	1493	c.1010C>A	c.(1009-1011)tCt>tAt	p.S337Y	SPATA22_ENST00000572969.1_Missense_Mutation_p.S337Y|SPATA22_ENST00000397168.3_Missense_Mutation_p.S337Y|SPATA22_ENST00000355380.4_Missense_Mutation_p.S294Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.S337Y|SPATA22_ENST00000541913.1_Missense_Mutation_p.S321Y			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	337										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTTTTGTTCAGAAACAGACGC	0.373000													9	51					9.70103e-10	1.30012e-09	0.069234	1	0
MEGF10	84466	broad.mit.edu	37	5	126774208	126774208	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:126774208G>A	ENST00000274473.6	+	18	2449	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	MEGF10_ENST00000503335.2_Missense_Mutation_p.D728N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	728	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGCGCCTACGATGGGGAATG	0.542000													6	115					0	0	0.278610	0	0
SSPO	23145	broad.mit.edu	37	7	149520902	149520902	+	RNA	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:149520902C>A	ENST00000378016.2	+	0	13479							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGACCCTGGCCCCTGGGGACC	0.672000													3	9					1.024e-07	1.30425e-07	0.184627	1	0
C4B	721	broad.mit.edu	37	6	31996586	31996586	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:31996586C>T	ENST00000435363.2	+	26	3431	c.3347C>T	c.(3346-3348)tCg>tTg	p.S1116L	C4B_ENST00000425700.2_Missense_Mutation_p.S1116L	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1116					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCTGACGGCTCGTTCCAGGAC	0.602000													12	106					0	0	0.132662	0	0
ZNF611	81856	broad.mit.edu	37	19	53208651	53208651	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:53208651G>C	ENST00000543227.1	-	6	1931	c.1657C>G	c.(1657-1659)Ctg>Gtg	p.L553V	ZNF611_ENST00000319783.1_Missense_Mutation_p.L553V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L484V|ZNF611_ENST00000453741.2_Missense_Mutation_p.L484V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L484V|ZNF611_ENST00000540744.1_Missense_Mutation_p.L553V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGTTTTGCCAGATAGGAATGA	0.408000													22	244					0	0	0.125774	0	0
PLA2R1	22925	broad.mit.edu	37	2	160840566	160840566	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:160840566C>A	ENST00000283243.7	-	13	2262	c.2056G>T	c.(2056-2058)Gtt>Ttt	p.V686F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.V686F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	686	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCATCAGAACTTTTTCACTA	0.318000													7	77					2.17888e-05	2.53504e-05	0.058154	1	0
HFE2	148738	broad.mit.edu	37	1	145415481	145415481	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:145415481C>A	ENST00000336751.5	+	3	538	c.300C>A	c.(298-300)gaC>gaA	p.D100E	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	100					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCGCGGGGACCTCGCCTTCC	0.726000													16	82					5.35356e-11	7.48261e-11	0.264190	1	0
POMT2	29954	broad.mit.edu	37	14	77767592	77767592	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:77767592C>A	ENST00000261534.4	-	6	859	c.656_splice	c.e6-1	p.R219_splice		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	219					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CAGAGAAGGGCCTGAAAATCA	0.542000											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	55					0.00198382	0.00216254	0.248553	1	0
NOTCH1	4851	broad.mit.edu	37	9	139400303	139400303	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:139400303C>A	ENST00000277541.6	-	25	4120	c.4045G>T	c.(4045-4047)Gct>Tct	p.A1349S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1349	EGF-like 35.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGTACGAGCGTCATTCTCA	0.731000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	26					0.00024832	0.000278948	0.150653	1	0
NFATC2IP	84901	broad.mit.edu	37	16	28970173	28970173	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:28970173G>C	ENST00000320805.4	+	6	1057	c.982G>C	c.(982-984)Gac>Cac	p.D328H	NFATC2IP_ENST00000564978.1_Missense_Mutation_p.D49H|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.D36H|NFATC2IP_ENST00000562977.1_3'UTR	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	328						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CGGAGTGGCTGACATCATTGG	0.587000													3	53					0	0	0.150653	0	0
IFI44	10561	broad.mit.edu	37	1	79125060	79125060	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:79125060G>T	ENST00000370747.4	+	6	989	c.904G>T	c.(904-906)Gac>Tac	p.D302Y	IFI44_ENST00000545124.1_Missense_Mutation_p.D19Y|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	302					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATCGCTGAAGGACAGAATTCA	0.353000													8	182					4.68919e-08	6.01779e-08	0.069234	1	0
APOB	338	broad.mit.edu	37	2	21242732	21242732	+	Silent	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:21242732T>A	ENST00000233242.1	-	19	2989	c.2862A>T	c.(2860-2862)ccA>ccT	p.P954P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	954	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAATGAGAGGTGGGATCACCT	0.473000													14	109					0	0	0.132662	0	0
TRRAP	8295	broad.mit.edu	37	7	98527770	98527770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:98527770G>T	ENST00000359863.4	+	24	3543	c.3334G>T	c.(3334-3336)Gag>Tag	p.E1112*	TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E1112*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E1111*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1112					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAATCGGGGAGGTGGCCCT	0.453000													28	78					1.22384e-17	1.86102e-17	0.173368	1	0
EPS8L2	64787	broad.mit.edu	37	11	726341	726341	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:726341C>T	ENST00000533256.1	+	20	2166	c.1791C>T	c.(1789-1791)ctC>ctT	p.L597L	EPS8L2_ENST00000526198.1_Silent_p.L613L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.L597L|EPS8L2_ENST00000318562.8_Silent_p.L597L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	597						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACGAGCTCATCCGGAAAA	0.701000													3	34					0	0	0.115264	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146754	70146754	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:70146754C>A	ENST00000335568.5	+	1	538	c.536C>A	c.(535-537)aCa>aAa	p.T179K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T179K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	179					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CCTGGCTACACAATTGAAAGG	0.423000													9	123					9.31168e-06	1.10617e-05	0.105934	1	0
CALML6	163688	broad.mit.edu	37	1	1848413	1848413	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:1848413G>T	ENST00000307786.3	+	5	853	c.398_splice	c.e5-1	p.K133_splice	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	133	EF-hand 3.					cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGCCCCGTAGGTACGTGCTAA	0.642000													9	24					1.76689e-08	2.29534e-08	0.058154	1	0
NPNT	255743	broad.mit.edu	37	4	106861750	106861750	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:106861750C>G	ENST00000379987.2	+	7	936	c.720C>G	c.(718-720)tgC>tgG	p.C240W	NPNT_ENST00000506666.1_Missense_Mutation_p.C270W|NPNT_ENST00000514622.1_Missense_Mutation_p.C240W|NPNT_ENST00000453617.2_Missense_Mutation_p.C257W|NPNT_ENST00000427316.2_Missense_Mutation_p.C270W|NPNT_ENST00000305572.8_Missense_Mutation_p.C240W	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	240	EGF-like 5; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCTACAAGTGCAAATGTAAAG	0.423000													20	118					0	0	0.279207	0	0
USP20	10868	broad.mit.edu	37	9	132637028	132637028	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:132637028G>A	ENST00000315480.4	+	18	2072	c.1914G>A	c.(1912-1914)acG>acA	p.T638T	USP20_ENST00000372429.3_Silent_p.T638T|USP20_ENST00000358355.1_Silent_p.T638T			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	638					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	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ACCACGGCACGGCAGGCAGTG	0.657000													27	122					0	0	0.153744	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136671	220136671	+	RNA	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:220136671C>A	ENST00000490341.1	+	0	1141					NR_003063.1																						TCACTATGGCCTGGGCCCGCC	0.562000													7	52					2.17888e-05	2.53504e-05	0.058154	1	0
GRIN2B	2904	broad.mit.edu	37	12	13720003	13720003	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:13720003C>A	ENST00000279593.3	-	12	2763	c.2554G>T	c.(2554-2556)Ggt>Tgt	p.G852C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	852					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAACAGACACCCATAAAGCAA	0.498000													9	57					4.68919e-08	6.01779e-08	0.069234	1	0
FMO1	2326	broad.mit.edu	37	1	171251411	171251411	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:171251411C>A	ENST00000354841.4	+	6	1253	c.1122C>A	c.(1120-1122)ccC>ccA	p.P374P	FMO1_ENST00000367750.3_Silent_p.P374P|FMO1_ENST00000402921.2_Silent_p.P311P|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	374					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATCAAACCCTTGGGCTCCA	0.478000													11	95					2.27111e-07	2.83721e-07	0.093190	1	0
RYR1	6261	broad.mit.edu	37	19	38966058	38966058	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:38966058G>A	ENST00000355481.4	+	29	4392	c.4261G>A	c.(4261-4263)Gat>Aat	p.D1421N	RYR1_ENST00000360985.3_Missense_Mutation_p.D1421N|RYR1_ENST00000359596.3_Missense_Mutation_p.D1421N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1421	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGACAACCGCGATGACCCCGA	0.587000													16	63					0	0	0.189662	0	0
OLFML1	283298	broad.mit.edu	37	11	7507166	7507166	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:7507166G>T	ENST00000329293.3	+	1	454	c.60G>T	c.(58-60)ctG>ctT	p.L20L	OLFML1_ENST00000528758.1_Silent_p.L20L|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.L20L	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	20						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCTTTTCTGCCCCCGCCGC	0.542000													13	59					2.27111e-07	2.83721e-07	0.093190	1	0
LGI1	9211	broad.mit.edu	37	10	95557155	95557155	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:95557155A>T	ENST00000371418.4	+	8	1529	c.1269A>T	c.(1267-1269)caA>caT	p.Q423H	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.Q375H	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	423					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCACTAACCAAACTGACATTC	0.423000													22	89					0	0	0.099896	0	0
RGMB	285704	broad.mit.edu	37	5	98115292	98115292	+	Nonsense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:98115292C>T	ENST00000308234.7	+	4	670	c.268C>T	c.(268-270)Caa>Taa	p.Q90*	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Nonsense_Mutation_p.Q49*	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	49					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGGTGACTGCCAACAGCCAGC	0.443000													12	231					0	0	0.119110	0	0
XIRP2	129446	broad.mit.edu	37	2	168107083	168107083	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:168107083G>A	ENST00000409195.1	+	9	9270	c.9181G>A	c.(9181-9183)Gtc>Atc	p.V3061I	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2839I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3061I|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2886					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAATGTTCATGTCAGCAATAA	0.358000													15	62					0	0	0.146539	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829576	146829576	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:146829576G>A	ENST00000361727.3	+	8	1839	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	441	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACAGACCAAGATGAGCCAAA	0.413000										HNSCC(39;0.1)			11	102					0	0	0.146539	0	0
WWC1	23286	broad.mit.edu	37	5	167855088	167855088	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:167855088G>A	ENST00000265293.4	+	12	2363	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	WWC1_ENST00000521089.1_Missense_Mutation_p.A621T	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	621					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGTCTCAGCCGCCGTATCGGA	0.582000													6	55					0	0	0.069234	0	0
STK16	8576	broad.mit.edu	37	2	220112210	220112210	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:220112210C>G	ENST00000409638.3	+	5	686	c.514C>G	c.(514-516)Caa>Gaa	p.Q172E	STK16_ENST00000396738.2_Missense_Mutation_p.Q172E|STK16_ENST00000486813.1_3'UTR|STK16_ENST00000409516.3_Missense_Mutation_p.Q54E|STK16_ENST00000409743.1_Missense_Mutation_p.Q172E|STK16_ENST00000409260.1_Missense_Mutation_p.Q217E	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	172	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCATGAATCAAGCATGCAT	0.507000													6	134					0	0	0.278610	0	0
ZNF791	163049	broad.mit.edu	37	19	12739298	12739298	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:12739298G>A	ENST00000343325.4	+	4	1117	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ZNF791_ENST00000540038.1_Missense_Mutation_p.E210K|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.E287K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCAAATTCATGAAAGAATTCA	0.398000													6	69					0	0	0.248553	0	0
FAM199X	139231	broad.mit.edu	37	X	103420446	103420446	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:103420446G>C	ENST00000493442.1	+	2	506	c.340G>C	c.(340-342)Gag>Cag	p.E114Q		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	114										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TTTATTTCCTGAGGGGAGTGT	0.413000													8	79					0	0	0.058154	0	0
ZNF497	162968	broad.mit.edu	37	19	58868926	58868926	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:58868926T>A	ENST00000311044.3	-	3	264	c.76A>T	c.(76-78)Acg>Tcg	p.T26S	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.T26S	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		AGGCCCCTCGTGGCAGTCTTC	0.657000													6	32					0	0	0.217242	0	0
FMO3	2328	broad.mit.edu	37	1	171061908	171061908	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:171061908A>T	ENST00000367755.4	+	2	220	c.109A>T	c.(109-111)Att>Ttt	p.I37F	FMO3_ENST00000538429.1_Missense_Mutation_p.I37F|FMO3_ENST00000542847.1_5'UTR|FMO3_ENST00000534514.1_3'UTR|FMO3_ENST00000392085.2_Missense_Mutation_p.I37F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	37					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGCAATGACATTGGGGGCCT	0.498000													5	55					0	0	0.217242	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7993277	7993277	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:7993277G>A	ENST00000377507.3	-	7	790	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	208					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAGAAACGGAGCGTGAGGA	0.453000													4	32					0	0	0.150653	0	0
PHF3	23469	broad.mit.edu	37	6	64423011	64423011	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:64423011C>G	ENST00000262043.3	+	16	5867	c.5527C>G	c.(5527-5529)Cca>Gca	p.P1843A	PHF3_ENST00000393387.1_Missense_Mutation_p.P1843A			Q92576	PHF3_HUMAN	PHD finger protein 3	1843	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ACTTCCCCCTCCAGGCTTTGG	0.522000													11	215					0	0	0.080935	0	0
DRD1	1812	broad.mit.edu	37	5	174869491	174869491	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:174869491G>T	ENST00000393752.2	-	2	1604	c.612C>A	c.(610-612)taC>taA	p.Y204*		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	204					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CCACAGGGATGTAAAAGCTTA	0.512000													23	121					1.08312e-15	1.61515e-15	0.144211	1	0
PVRL1	5818	broad.mit.edu	37	11	119508921	119508921	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:119508921C>T	ENST00000341398.2	-	8	1263	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	RP11-196E1.3_ENST00000601999.1_RNA|RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TCCTCCTCTTCTTGCTGCTGC	0.617000													3	50					0	0	0.184627	0	0
RNASE12	493901	broad.mit.edu	37	14	21058511	21058511	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:21058511G>A	ENST00000556526.1	-	1	471	c.372C>T	c.(370-372)tcC>tcT	p.S124S	RP11-14J7.6_ENST00000554529.1_RNA|RNASE11_ENST00000335950.4_5'UTR|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.S124S(1)		kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CCTCTGTGGGGGAATAGTGGT	0.458000													7	73					0	0	0.278610	0	0
NDN	4692	broad.mit.edu	37	15	23931707	23931707	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:23931707G>T	ENST00000331837.4	-	1	743	c.658C>A	c.(658-660)Cgg>Agg	p.R220R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	220	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTCCAGGGCCGCAGCCCCAGG	0.607000									Prader-Willi syndrome				4	38					0.150653	0.153554	0.150653	1	0
PTPRC	5788	broad.mit.edu	37	1	198691561	198691561	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:198691561G>T	ENST00000367376.2	+	15	1841	c.1670G>T	c.(1669-1671)gGa>gTa	p.G557V	PTPRC_ENST00000352140.3_Missense_Mutation_p.G509V|PTPRC_ENST00000594404.1_Missense_Mutation_p.G396V|PTPRC_ENST00000348564.6_Missense_Mutation_p.G398V|PTPRC_ENST00000442510.2_Missense_Mutation_p.G559V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	557	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTCACAATGGAGACTATCCT	0.229000													9	147					1.49906e-05	1.75616e-05	0.119110	1	0
RLF	6018	broad.mit.edu	37	1	40702936	40702936	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:40702936G>T	ENST00000372771.4	+	8	2589	c.2562G>T	c.(2560-2562)caG>caT	p.Q854H		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	854					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GTATTAATCAGCCCCATCTAC	0.353000													5	61					0.0215528	0.0224541	0.217242	1	0
BBS2	583	broad.mit.edu	37	16	56519616	56519616	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:56519616C>T	ENST00000245157.5	-	16	2365	c.1945G>A	c.(1945-1947)Gac>Aac	p.D649N	BBS2_ENST00000568104.1_Missense_Mutation_p.D603N	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	649					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						CTATTAAGGTCATAGAGTTCC	0.353000									Bardet-Biedl syndrome				9	73					0	0	0.058154	0	0
ACTN2	88	broad.mit.edu	37	1	236881194	236881194	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:236881194G>A	ENST00000366578.4	+	2	329	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.A55T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	55	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTAAGGAAAGCCGGCACCCA	0.483000													6	42					0	0	0.058154	0	0
SCAPER	49855	broad.mit.edu	37	15	76995281	76995281	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr15:76995281C>A	ENST00000538941.2	-	19	2511	c.1572G>T	c.(1570-1572)gaG>gaT	p.E524D	SCAPER_ENST00000324767.7_Missense_Mutation_p.E770D|SCAPER_ENST00000563290.1_Missense_Mutation_p.E770D	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	769	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CACTGCTTAGCTCAGCAGCTT	0.403000													16	74					2.48551e-13	3.59253e-13	0.160694	1	0
PCNXL4	64430	broad.mit.edu	37	14	60581871	60581871	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:60581871A>T	ENST00000406854.1	+	4	1603	c.1049A>T	c.(1048-1050)cAt>cTt	p.H350L	PCNXL4_ENST00000404681.2_Missense_Mutation_p.H350L|PCNXL4_ENST00000317623.4_Missense_Mutation_p.H116L|PCNXL4_ENST00000406949.1_Missense_Mutation_p.H116L					pecanex-like 4 (Drosophila)																		CCGGAAAAACATTTTTCATGG	0.378000													14	73					0	0	0.146539	0	0
ACSS3	79611	broad.mit.edu	37	12	81503420	81503420	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:81503420C>T	ENST00000548058.1	+	2	1303	c.393C>T	c.(391-393)atC>atT	p.I131I	ACSS3_ENST00000261206.3_Silent_p.I130I|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	131						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGATTGCTATCATCTATGACA	0.323000													24	86					0	0	0.099896	0	0
ANK2	287	broad.mit.edu	37	4	114161692	114161692	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:114161692G>C	ENST00000357077.4	+	8	798	c.745G>C	c.(745-747)Gca>Cca	p.A249P	ANK2_ENST00000394537.3_Missense_Mutation_p.A249P|ANK2_ENST00000264366.6_Missense_Mutation_p.A249P|ANK2_ENST00000506722.1_Missense_Mutation_p.A228P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	249					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTCAACGTGGCAACTCTTCT	0.403000													8	108					0	0	0.058154	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423193	47423193	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:47423193G>C	ENST00000404338.3	+	1	1261	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	421	FF 2.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGCCCACTTAGAGAAGCTGAG	0.473000													13	117					0	0	0.146539	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143259	91143259	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:91143259C>A	ENST00000371809.3	+	2	269	c.189C>A	c.(187-189)caC>caA	p.H63Q	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	63							binding			endometrium(2)|large_intestine(3)|lung(8)	13						ATGTGAAACACCTGAAAGGCC	0.423000													12	54					6.72482e-11	9.35292e-11	0.132662	1	0
CHD1L	9557	broad.mit.edu	37	1	146757091	146757091	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:146757091G>C	ENST00000369258.4	+	17	1965	c.1945G>C	c.(1945-1947)Gaa>Caa	p.E649Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.E368Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.E445Q|CHD1L_ENST00000431239.1_Missense_Mutation_p.E555Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	649			E -> A (in dbSNP:rs13374920).		chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GAAAAGACAAGAAGCAGCTGC	0.493000													5	103					0	0	0.184627	0	0
ELP2	55250	broad.mit.edu	37	18	33747106	33747106	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:33747106C>T	ENST00000358232.6	+	19	2060	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F	ELP2_ENST00000350494.6_Missense_Mutation_p.S661F|ELP2_ENST00000442325.2_Missense_Mutation_p.S731F|ELP2_ENST00000351393.6_Missense_Mutation_p.S640F|ELP2_ENST00000423854.2_Missense_Mutation_p.S596F|ELP2_ENST00000542824.1_Missense_Mutation_p.S596F	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	666					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						AAAATTACTTCTGTGCACAGT	0.343000													6	179					0	0	0.058154	0	0
ATIC	471	broad.mit.edu	37	2	216182916	216182916	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:216182916G>T	ENST00000435675.1	+	2	571	c.180G>T	c.(178-180)ttG>ttT	p.L60F	ATIC_ENST00000540518.1_Missense_Mutation_p.L2F|ATIC_ENST00000236959.9_Missense_Mutation_p.L61F			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	61					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CTGAAATGTTGGGGGGACGTG	0.393000			T	ALK	ALCL								27	174					4.74835e-14	6.89855e-14	0.153744	1	0
ZNF93	81931	broad.mit.edu	37	19	20045264	20045264	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:20045264G>C	ENST00000343769.5	+	4	1528	c.1500G>C	c.(1498-1500)aaG>aaC	p.K500N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	500						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						CTAAACATAAGAAAATTCATA	0.353000													3	101					0	0	0.150653	0	0
CNTN2	6900	broad.mit.edu	37	1	205035709	205035709	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:205035709T>A	ENST00000331830.4	+	15	2241	c.1957T>A	c.(1957-1959)Tgg>Agg	p.W653R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	653	Fibronectin type-III 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCAGGGAAGTGGAAGCAGGT	0.597000													5	50					0	0	0.278610	0	0
MSL2	55167	broad.mit.edu	37	3	135871362	135871362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:135871362C>A	ENST00000309993.2	-	2	1093	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	MSL2_ENST00000434835.2_Nonsense_Mutation_p.E47*	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	121					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TCAACTGCTTCTATTATATCC	0.383000													13	158					2.31682e-05	2.68815e-05	0.132662	1	0
PLA1A	51365	broad.mit.edu	37	3	119347670	119347670	+	Missense_Mutation	SNP	T	T	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:119347670T>C	ENST00000273371.4	+	10	1316	c.1244T>C	c.(1243-1245)aTt>aCt	p.I415T	PLA1A_ENST00000495992.1_Missense_Mutation_p.I399T|PLA1A_ENST00000494440.1_Missense_Mutation_p.I399T|PLA1A_ENST00000488919.1_Missense_Mutation_p.I242T	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	415	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGGACTACCATTATTGGGAAG	0.463000													27	148					0	0	0.125774	0	0
CCKBR	887	broad.mit.edu	37	11	6291552	6291552	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:6291552G>A	ENST00000525462.1	+	3	641	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	CCKBR_ENST00000532715.1_Missense_Mutation_p.R129Q|CCKBR_ENST00000334619.2_Missense_Mutation_p.R213Q			P32239	GASR_HUMAN	cholecystokinin B receptor	173					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCCAGTGCGCGGGTCCGCCAG	0.582000													6	192					0	0	0.248553	0	0
OR4D9	390199	broad.mit.edu	37	11	59282964	59282964	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:59282964C>T	ENST00000329328.3	+	1	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTGACACCTTCACTCTGGAGC	0.453000													20	151					0	0	0.219247	0	0
KCND3	3752	broad.mit.edu	37	1	112524602	112524602	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:112524602G>A	ENST00000369697.1	-	1	816	c.747C>T	c.(745-747)ccC>ccT	p.P249P	KCND3_ENST00000302127.4_Silent_p.P249P|KCND3_ENST00000315987.2_Silent_p.P249P			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	249						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGTAGCGGCTGGGAGCCGCGA	0.617000													4	40					0	0	0.150653	0	0
PLIN4	729359	broad.mit.edu	37	19	4513702	4513702	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:4513702C>A	ENST00000301286.3	-	3	227	c.228G>T	c.(226-228)ggG>ggT	p.G76G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	76						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGTCTTTGGCCCCGGACACCA	0.612000													3	27					0.184627	0.187505	0.184627	1	0
POLR2G	5436	broad.mit.edu	37	11	62529353	62529353	+	Silent	SNP	G	G	A	rs34019469		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:62529353G>A	ENST00000301788.7	+	2	204	c.99G>A	c.(97-99)gaG>gaA	p.E33E		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	33					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						TCTTCACCGAGGTGGAGGGGA	0.602000													17	136					0	0	0.189662	0	0
C9orf24	84688	broad.mit.edu	37	9	34381439	34381439	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:34381439C>A	ENST00000297623.2	-	4	598	c.400G>T	c.(400-402)Gcc>Tcc	p.A134S	C9orf24_ENST00000379124.1_5'UTR|C9orf24_ENST00000379127.1_5'UTR|C9orf24_ENST00000379126.3_5'UTR|C9orf24_ENST00000379133.3_5'UTR	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	134										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCCATCCTGGCCTCCTGGAAG	0.597000													25	104					1.2476e-16	1.87694e-16	0.116897	1	0
TLE1	7088	broad.mit.edu	37	9	84208119	84208119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:84208119C>A	ENST00000376499.3	-	15	2466	c.1402G>T	c.(1402-1404)Gga>Tga	p.G468*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	468					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATTCCGGGTCCGATGAGGGCG	0.582000													13	111					0.000219431	0.000248142	0.119110	1	0
PI15	51050	broad.mit.edu	37	8	75737579	75737579	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:75737579C>G	ENST00000260113.2	+	2	274	c.95C>G	c.(94-96)cCg>cGg	p.P32R	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.P32R	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	32						extracellular region	peptidase inhibitor activity	p.P32Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478000													6	167					0	0	0.217242	0	0
SND1	27044	broad.mit.edu	37	7	127343232	127343232	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:127343232G>T	ENST00000354725.3	+	7	889	c.695G>T	c.(694-696)cGa>cTa	p.R232L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	232	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAACTTTTCGACGGGAAGCA	0.483000													41	134					2.65591e-33	4.19693e-33	0.139131	1	0
SMG1	23049	broad.mit.edu	37	16	18856834	18856834	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:18856834C>A	ENST00000446231.2	-	39	6548	c.6136G>T	c.(6136-6138)Gat>Tat	p.D2046Y	SMG1_ENST00000389467.3_Missense_Mutation_p.D2046Y			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2046					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCAATGGCATCACCATAGTTA	0.438000													5	53					5.9392e-07	7.31178e-07	0.217242	1	0
KRT38	8687	broad.mit.edu	37	17	39597105	39597105	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:39597105G>C	ENST00000246646.3	-	1	68	c.69C>G	c.(67-69)gtC>gtG	p.V23V		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	23	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GAGAGACAGAGACATTTCTTG	0.592000													4	102					0	0	0.150653	0	0
JAK2	3717	broad.mit.edu	37	9	5054759	5054759	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:5054759G>C	ENST00000381652.3	+	7	1305	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	JAK2_ENST00000539801.1_Missense_Mutation_p.E271Q|JAK2_ENST00000544510.1_Missense_Mutation_p.E122Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	271	FERM.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGAGAAATTTGAAGTAAAAGA	0.398000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				10	49					0	0	0.058154	0	0
ANKRD28	23243	broad.mit.edu	37	3	15720854	15720854	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:15720854C>G	ENST00000399451.2	-	23	2792	c.2425G>C	c.(2425-2427)Gat>Cat	p.D809H	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.D842H	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	809						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTAATGTATCAATTAACATC	0.403000													27	172					0	0	0.173368	0	0
AKR1B15	441282	broad.mit.edu	37	7	134253022	134253022	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:134253022A>T	ENST00000457545.2	+	4	523	c.263A>T	c.(262-264)cAa>cTa	p.Q88L	AKR1B15_ENST00000423958.1_Missense_Mutation_p.Q60L	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	88							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GAAGCCATCCAAGAGAAGATC	0.507000													41	162					0	0	0.139131	0	0
SLC9C2	284525	broad.mit.edu	37	1	173570815	173570815	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:173570815A>T	ENST00000367714.3	-	2	523	c.101T>A	c.(100-102)cTt>cAt	p.L34H	SLC9C2_ENST00000536496.1_De_novo_Start_InFrame|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	34					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GAAGCATACAAGCGTTGTGAA	0.428000													11	95					0	0	0.093190	0	0
IRS4	8471	broad.mit.edu	37	X	107978200	107978200	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:107978200C>T	ENST00000372129.2	-	1	1451	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	459						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCAGACACTTCAGAAGACAGG	0.577000													4	79					0	0	0.217242	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215132	140215132	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140215132C>A	ENST00000525929.1	+	1	1164	c.1164C>A	c.(1162-1164)tcC>tcA	p.S388S	PCDHA7_ENST00000378125.3_Silent_p.S388S|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACCTGCTCCCTGACGCCCC	0.537000													30	174					3.1745e-13	4.58058e-13	0.134883	1	0
ZNF479	90827	broad.mit.edu	37	7	57188665	57188665	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:57188665G>T	ENST00000331162.4	-	5	727	c.457C>A	c.(457-459)Caa>Aaa	p.Q153K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATTTTGTTTTGGGTAGTTGAC	0.294000													11	82					1.3612e-06	1.65178e-06	0.132662	1	0
MC2R	4158	broad.mit.edu	37	18	13885318	13885318	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:13885318G>T	ENST00000327606.3	-	2	380	c.200C>A	c.(199-201)gCc>gAc	p.A67D		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	67					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATCAGATATGGCCAAGCTACA	0.423000													10	66					3.86212e-05	4.43856e-05	0.069234	1	0
OR9A2	135924	broad.mit.edu	37	7	142723856	142723856	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:142723856C>A	ENST00000350513.2	-	1	426	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGGTTACACACAGCCACATAA	0.438000													21	92					1.16857e-26	1.83292e-26	0.294199	1	0
KRT33B	3884	broad.mit.edu	37	17	39525760	39525760	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:39525760G>A	ENST00000251646.3	-	1	292	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	81	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCAGCTCCGCGTTGTCCCGCT	0.617000													7	77					0	0	0.069234	0	0
RNF165	494470	broad.mit.edu	37	18	44013365	44013365	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:44013365G>T	ENST00000269439.7	+	2	325	c.274G>T	c.(274-276)Gac>Tac	p.D92Y	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	92							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GCAGTTCCAGGACGTCACAGG	0.697000													10	49					0.010729	0.0114165	0.080935	1	0
CA10	56934	broad.mit.edu	37	17	50008411	50008411	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:50008411G>A	ENST00000451037.2	-	3	1158	c.218C>T	c.(217-219)aCc>aTc	p.T73I	CA10_ENST00000285273.4_Missense_Mutation_p.T73I|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.T73I|CA10_ENST00000340813.6_Missense_Mutation_p.T79I	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	73					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CATGTGACTGGTCTCTATGTT	0.473000													34	196					0	0	0.257332	0	0
FN3K	64122	broad.mit.edu	37	17	80708484	80708484	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:80708484C>T	ENST00000300784.7	+	6	845	c.783C>T	c.(781-783)acC>acT	p.T261T		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	261					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCTTCTTCACCGCCTACCACC	0.577000													21	186					0	0	0.264190	0	0
SERPINA3	12	broad.mit.edu	37	14	95085764	95085764	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:95085764C>A	ENST00000553947.1	+	6	1839	c.951C>A	c.(949-951)ctC>ctA	p.L317L	SERPINA3_ENST00000482740.1_Silent_p.L74L|SERPINA3_ENST00000467132.1_Silent_p.L292L|SERPINA3_ENST00000393080.4_Silent_p.L292L|SERPINA3_ENST00000393078.3_Silent_p.L292L|SERPINA3_ENST00000556388.1_Intron			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	292					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CCATGCTGCTCCCAGAGACCC	0.557000													4	62					0.217242	0.220101	0.217242	1	0
FAM83G	644815	broad.mit.edu	37	17	18874965	18874965	+	Missense_Mutation	SNP	C	C	A	rs138715863	by1000genomes	TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:18874965C>A	ENST00000388995.6	-	6	2402	c.2179G>T	c.(2179-2181)Gtc>Ttc	p.V727F	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V727F|FAM83G_ENST00000585154.2_Missense_Mutation_p.V727F|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	727										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGCTCTGGACGCTGTCAGCA	0.647000													11	47					4.36969e-10	5.9218e-10	0.105934	1	0
TTN	7273	broad.mit.edu	37	2	179433349	179433349	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:179433349G>T	ENST00000589042.1	-	326	77734	c.77510C>A	c.(77509-77511)cCa>cAa	p.P25837Q	TTN_ENST00000460472.2_Missense_Mutation_p.P16772Q|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23269Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16964Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24196Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16897Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24196	Fibronectin type-III 88.						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)			CTGCTTCAGTGGGAGACCATC	0.418000													21	96					1.17739e-12	1.6874e-12	0.108266	1	0
KIF9	64147	broad.mit.edu	37	3	47318870	47318870	+	Splice_Site	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:47318870C>A	ENST00000335044.2	-	2	353		c.e2-1		KIF9_ENST00000452770.2_Splice_Site|KIF9_ENST00000444589.2_Splice_Site|KIF9_ENST00000432493.1_Splice_Site|KIF9_ENST00000352910.4_Splice_Site|KIF9_ENST00000265529.3_Splice_Site|KIF9_ENST00000425853.1_Splice_Site|KIF9_ENST00000425452.1_Splice_Site|KIF9_ENST00000487440.1_Splice_Site	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9						blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCATTCTAGCTAAAAAGAAG	0.383000													4	38					0.0215528	0.0224541	0.217242	1	0
M1AP	130951	broad.mit.edu	37	2	74802690	74802690	+	Missense_Mutation	SNP	C	C	G	rs140179344		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:74802690C>G	ENST00000290536.5	-	7	1065	c.949G>C	c.(949-951)Ggg>Cgg	p.G317R	M1AP_ENST00000409585.1_Missense_Mutation_p.G317R|M1AP_ENST00000358434.2_Missense_Mutation_p.G35R|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.G317R	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TCGCAGAGCCCGCTAGATTTT	0.448000													21	129					0	0	0.116897	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130689583	130689583	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:130689583C>A	ENST00000388747.4	-	6	631	c.587G>T	c.(586-588)gGa>gTa	p.G196V	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	196	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CACCTTCTTTCCCCGGTCCAC	0.701000													4	24					1.23904e-05	1.45557e-05	0.184627	1	0
OR13C9	286362	broad.mit.edu	37	9	107379808	107379808	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:107379808G>C	ENST00000259362.1	-	1	677	c.678C>G	c.(676-678)ctC>ctG	p.L226L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AGTGAATCTTGAGGATGCTGG	0.433000													15	59					0	0	0.132662	0	0
OR4K17	390436	broad.mit.edu	37	14	20585704	20585704	+	Missense_Mutation	SNP	G	G	A	rs140746701		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:20585704G>A	ENST00000315543.4	+	1	139	c.139G>A	c.(139-141)Gga>Aga	p.G47R		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATTTTGCTGGGACTGACCAG	0.423000													14	165					0	0	0.146539	0	0
TENM2	57451	broad.mit.edu	37	5	167673848	167673848	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:167673848C>G	ENST00000519204.1	+	26	5659	c.5541C>G	c.(5539-5541)agC>agG	p.S1847R	TENM2_ENST00000545108.1_Missense_Mutation_p.S1967R|TENM2_ENST00000518659.1_Missense_Mutation_p.S1968R|TENM2_ENST00000403607.2_Missense_Mutation_p.S1792R|TENM2_ENST00000520394.1_Missense_Mutation_p.S1729R					teneurin transmembrane protein 2																		CCATGCCCAGCGTGGCCCGGC	0.522000													29	245					0	0	0.125774	0	0
ZNF358	140467	broad.mit.edu	37	19	7585281	7585281	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:7585281G>T	ENST00000597229.1	+	2	1323	c.1153G>T	c.(1153-1155)Ggc>Tgc	p.G385C	ZNF358_ENST00000394341.2_Missense_Mutation_p.G385C|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	385					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GAAGGCCTTCGGCCAGGCCTC	0.697000													5	34					0.00116845	0.00128196	0.217242	1	0
IQGAP2	10788	broad.mit.edu	37	5	75979628	75979628	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:75979628C>A	ENST00000274364.6	+	30	4088	c.3791C>A	c.(3790-3792)cCt>cAt	p.P1264H	IQGAP2_ENST00000396234.3_Missense_Mutation_p.P760H|IQGAP2_ENST00000379730.3_Missense_Mutation_p.P766H|IQGAP2_ENST00000502745.1_Missense_Mutation_p.P760H	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1264					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CCCAATGACCCTAACAAGGCA	0.408000													15	74					0.00074312	0.000822775	0.175082	1	0
SPTA1	6708	broad.mit.edu	37	1	158609376	158609376	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:158609376C>G	ENST00000368148.3	-	35	5156	c.4976G>C	c.(4975-4977)cGa>cCa	p.R1659P	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1659P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1659					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACTTACCTCTCGAGCCAACAT	0.483000													7	127					0	0	0.058154	0	0
MTDH	92140	broad.mit.edu	37	8	98656866	98656866	+	Silent	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:98656866G>C	ENST00000336273.3	+	1	460	c.132G>C	c.(130-132)ccG>ccC	p.P44P	MTDH_ENST00000519934.1_Silent_p.P21P	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	44	Activation of NF-kappa-B.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GGCTGGAGCCGAAACGGTACC	0.726000													4	70					0	0	0.248553	0	0
OBSCN	84033	broad.mit.edu	37	1	228431075	228431075	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:228431075G>T	ENST00000570156.2	+	11	3471	c.3397G>T	c.(3397-3399)Gtg>Ttg	p.V1133L	OBSCN_ENST00000422127.1_Missense_Mutation_p.V1041L|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1041L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	69	Ig-like 11.		L -> V.		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGCTGGTGGTGCAGCAGGC	0.602000													3	40					0.004672	0.00504743	0.115264	1	0
ARHGAP33	115703	broad.mit.edu	37	19	36276336	36276336	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:36276336G>A	ENST00000007510.4	+	19	2037	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L	ARHGAP33_ENST00000378944.5_Silent_p.L495L|ARHGAP33_ENST00000314737.5_Silent_p.L631L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	631					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGTCACACTGAGATCTGCCA	0.662000													13	136					0	0	0.160694	0	0
SYT14	255928	broad.mit.edu	37	1	210194497	210194497	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:210194497G>T	ENST00000537238.1	+	5	617	c.226G>T	c.(226-228)Gca>Tca	p.A76S	SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.A76S|SYT14_ENST00000399639.2_Missense_Mutation_p.A114S|SYT14_ENST00000367019.1_Missense_Mutation_p.A114S|SYT14_ENST00000422431.1_Missense_Mutation_p.A159S|SYT14_ENST00000534859.1_Missense_Mutation_p.A114S|SYT14_ENST00000472886.1_Missense_Mutation_p.A114S	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	114						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ACTACCACTGGCAGATTCTAG	0.433000													18	77					1.15919e-05	1.37319e-05	0.204396	1	0
PKN2	5586	broad.mit.edu	37	1	89226021	89226021	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:89226021G>C	ENST00000370521.3	+	3	825	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	PKN2_ENST00000370513.5_Missense_Mutation_p.E156Q|PKN2_ENST00000370505.3_5'UTR|PKN2_ENST00000316005.7_Missense_Mutation_p.E156Q	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	156					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)		ACAAGGTGCAGAGAATATGAT	0.308000													26	148					0	0	0.134883	0	0
DEFB119	245932	broad.mit.edu	37	20	29976926	29976926	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:29976926T>A	ENST00000376315.2	-	2	168	c.169A>T	c.(169-171)Aca>Tca	p.T57S	DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	0					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGTTGGATTGTTAAATAACGA	0.428000													15	124					0	0	0.189662	0	0
LPCAT2	54947	broad.mit.edu	37	16	55608556	55608556	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:55608556G>T	ENST00000262134.5	+	12	1413	c.1229G>T	c.(1228-1230)aGc>aTc	p.S410I	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	410	EF-hand 1.				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CATGATGGCAGCATTGACTTC	0.448000													7	104					1.76689e-08	2.29534e-08	0.058154	1	0
BCL2L1	598	broad.mit.edu	37	20	30309659	30309659	+	Missense_Mutation	SNP	C	C	G	rs141475590		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:30309659C>G	ENST00000307677.4	-	2	773	c.363G>C	c.(361-363)caG>caC	p.Q121H	BCL2L1_ENST00000376062.2_Missense_Mutation_p.Q121H|BCL2L1_ENST00000420653.1_Missense_Mutation_p.Q121H|BCL2L1_ENST00000376055.4_Missense_Mutation_p.Q121H	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	121					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GTTCAAAGCTCTGATATGCTG	0.577000													11	194					0	0	0.093190	0	0
ABCG2	9429	broad.mit.edu	37	4	89034633	89034633	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:89034633G>A	ENST00000237612.3	-	9	1561	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	ABCG2_ENST00000515655.1_Missense_Mutation_p.S339F	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	339					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GTAGAAGGAGGAGTTGACATA	0.428000													5	166					0	0	0.248553	0	0
SLC6A5	9152	broad.mit.edu	37	11	20676307	20676307	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:20676307G>T	ENST00000525748.1	+	16	2560	c.2287G>T	c.(2287-2289)Gct>Tct	p.A763S	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	763					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CCCATTCTTAGCTCAACACCG	0.542000													6	137					5.18039e-06	6.1887e-06	0.278610	1	0
SDCCAG3	10807	broad.mit.edu	37	9	139301920	139301920	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr9:139301920C>A	ENST00000298537.7	-	4	638	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.D93Y|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.D166Y	NM_006643.3	NP_006634.3	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	166						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CCTGTCGGATCCTCGAAAAAT	0.607000													3	37					0.00024832	0.000278948	0.150653	1	0
CPED1	79974	broad.mit.edu	37	7	120901703	120901703	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:120901703G>T	ENST00000450913.2	+	18	2351	c.2328G>T	c.(2326-2328)caG>caT	p.Q776H	CPED1_ENST00000310396.5_Intron|CPED1_ENST00000423795.1_Missense_Mutation_p.Q556H	NM_001105533.1	NP_001099003.1			cadherin-like and PC-esterase domain containing 1																		tcgatgtccagagagttccta	0.493000													3	21					0.150653	0.153554	0.150653	1	0
CETP	1071	broad.mit.edu	37	16	57017540	57017540	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:57017540G>A	ENST00000200676.3	+	16	1574	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	CETP_ENST00000566128.1_Missense_Mutation_p.E417K|CETP_ENST00000379780.2_Missense_Mutation_p.E422K	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	482					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGGCTTCCCTGAGCACCTGCT	0.617000													8	131					0	0	0.093190	0	0
GPR55	9290	broad.mit.edu	37	2	231775358	231775358	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:231775358C>T	ENST00000392040.1	-	2	512	c.320G>A	c.(319-321)gGa>gAa	p.G107E	GPR55_ENST00000392039.2_Missense_Mutation_p.G107E	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	107					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GAAGACGCTTCCGTACATGCT	0.587000													4	50					0	0	0.150653	0	0
OR2B11	127623	broad.mit.edu	37	1	247614339	247614339	+	Missense_Mutation	SNP	A	A	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:247614339A>T	ENST00000318749.6	-	1	969	c.946T>A	c.(946-948)Tgt>Agt	p.C316S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATCATCCACAGAGCCTCCAG	0.453000													54	275					0	0	0.139131	0	0
HTT	3064	broad.mit.edu	37	4	3211676	3211676	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:3211676G>T	ENST00000355072.5	+	47	6559	c.6414_splice	c.e47+1	p.S2138_splice		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2138					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGATGAACTCGGTACGGGGGG	0.493000													28	164					1.30293e-26	2.0399e-26	0.183431	1	0
HCFC1R1	54985	broad.mit.edu	37	16	3072937	3072937	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:3072937C>A	ENST00000248089.3	-	4	648	c.344G>T	c.(343-345)cGt>cTt	p.R115L	HCFC1R1_ENST00000354679.3_Missense_Mutation_p.R113L|HCFC1R1_ENST00000396916.1_Missense_Mutation_p.R115L|HCFC1R1_ENST00000572355.1_Missense_Mutation_p.R75L|HCFC1R1_ENST00000574980.1_Missense_Mutation_p.R115L|HCFC1R1_ENST00000574151.1_Missense_Mutation_p.R96L	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	115						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CCTCAGCAGACGGAGGGCCTC	0.632000													5	20					0.184627	0.187505	0.184627	1	0
FNDC3B	64778	broad.mit.edu	37	3	172115082	172115082	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:172115082C>T	ENST00000336824.4	+	26	3531	c.3432C>T	c.(3430-3432)ccC>ccT	p.P1144P	FNDC3B_ENST00000415807.2_Silent_p.P1144P|FNDC3B_ENST00000416957.1_Silent_p.P1144P	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1144	Fibronectin type-III 9.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTCAGCCCCTCTGCGGCTT	0.512000													10	83					0	0	0.080935	0	0
SS18	6760	broad.mit.edu	37	18	23618527	23618527	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:23618527T>A	ENST00000415083.2	-	7	927	c.872A>T	c.(871-873)tAc>tTc	p.Y291F	SS18_ENST00000545952.1_Missense_Mutation_p.Y239F|SS18_ENST00000539849.1_Missense_Mutation_p.Y209F|SS18_ENST00000269137.7_Missense_Mutation_p.Y291F|SS18_ENST00000542420.2_Missense_Mutation_p.Y268F|SS18_ENST00000542743.1_Missense_Mutation_p.Y239F	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	291	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					ACCATCAGGGTAATATTGCTG	0.438000			T	"""SSX1,  SSX2"""	synovial sarcoma								15	164					0	0	0.204396	0	0
PCDH1	5097	broad.mit.edu	37	5	141242828	141242828	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:141242828C>A	ENST00000287008.3	-	3	3215	c.3068G>T	c.(3067-3069)cGc>cTc	p.R1023L	PCDH1_ENST00000456271.1_Missense_Mutation_p.R1011L|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Missense_Mutation_p.R1023L|PCDH1_ENST00000536585.1_Missense_Mutation_p.R1001L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	1023					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGGGTTGGTGCGGTAGCTGTA	0.632000													24	130					2.4375e-19	3.74693e-19	0.125774	1	0
TTL	150465	broad.mit.edu	37	2	113243499	113243499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:113243499G>T	ENST00000233336.5	+	2	354	c.163G>T	c.(163-165)Gag>Tag	p.E55*		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	55	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CCTAGGTCACGAGCCCGGGCT	0.507000			T	ETV6	ALL								21	175					2.36697e-06	2.85995e-06	0.125774	1	0
ASPM	259266	broad.mit.edu	37	1	197071424	197071424	+	Silent	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:197071424C>T	ENST00000367409.4	-	18	7213	c.6957G>A	c.(6955-6957)caG>caA	p.Q2319Q	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2319	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTATGATGACTGGATTTTAA	0.378000													5	89					0	0	0.217242	0	0
PREB	10113	broad.mit.edu	37	2	27354627	27354627	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:27354627C>G	ENST00000260643.2	-	8	1325	c.1072G>C	c.(1072-1074)Ggt>Cgt	p.G358R	PREB_ENST00000406567.3_Missense_Mutation_p.G300R	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	358					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCTGGACCACGACCCTTC	0.577000													16	195					0	0	0.219247	0	0
TMCO2	127391	broad.mit.edu	37	1	40717196	40717196	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:40717196C>G	ENST00000372766.3	+	2	572	c.479C>G	c.(478-480)tCt>tGt	p.S160C	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	160						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			GATTGCTCCTCTGAGCCCTAC	0.443000													7	81					0	0	0.069234	0	0
TP53	7157	broad.mit.edu	37	17	7573976	7573976	+	Nonsense_Mutation	SNP	T	T	A	rs141402957		TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:7573976T>A	ENST00000269305.4	-	10	1240	c.1051A>T	c.(1051-1053)Aag>Tag	p.K351*	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.K351*|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	351	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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.0?(8)|p.K351E(2)|p.I332fs*5(1)|p.L350fs*28(1)|p.?(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)		TGGGCATCCTTGAGTTCCAAG	0.592000		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)			6	41					0	0	0.047766	0	0
LACC1	144811	broad.mit.edu	37	13	44456357	44456357	+	Missense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr13:44456357G>C	ENST00000441843.1	+	3	1084	c.599G>C	c.(598-600)gGg>gCg	p.G200A	LACC1_ENST00000325686.6_Missense_Mutation_p.G200A	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	200																	AGAACAGGTGGGATATCTTAT	0.373000													12	82					0	0	0.119110	0	0
SYTL2	54843	broad.mit.edu	37	11	85436451	85436451	+	Missense_Mutation	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:85436451C>G	ENST00000359152.5	-	1	2620	c.2621G>C	c.(2620-2622)aGa>aCa	p.R874T	SYTL2_ENST00000354566.3_Missense_Mutation_p.R350T|SYTL2_ENST00000525423.1_Missense_Mutation_p.R350T|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGAACCCTTTCTGGAAAGCTG	0.493000													3	104					0	0	0.150653	0	0
SOS2	6655	broad.mit.edu	37	14	50616825	50616825	+	Missense_Mutation	SNP	T	T	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:50616825T>A	ENST00000216373.5	-	14	2559	c.2285A>T	c.(2284-2286)cAt>cTt	p.H762L	SOS2_ENST00000543680.1_Missense_Mutation_p.H729L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	762					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTGCTGATATGCCATTCAAT	0.418000													18	191					0	0	0.234183	0	0
SLC6A7	6534	broad.mit.edu	37	5	149576355	149576355	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:149576355C>A	ENST00000230671.2	+	3	665	c.294C>A	c.(292-294)ggC>ggA	p.G98G	SLC6A7_ENST00000524041.1_Silent_p.G98G	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	98						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCTCCCTGGGCCAGTTCTCCA	0.642000													20	165					1.85244e-09	2.45928e-09	0.279207	1	0
NLGN4X	57502	broad.mit.edu	37	X	5811563	5811563	+	Nonsense_Mutation	SNP	G	G	C			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:5811563G>C	ENST00000381095.3	-	6	2373	c.1746C>G	c.(1744-1746)taC>taG	p.Y582*	NLGN4X_ENST00000538097.1_Nonsense_Mutation_p.Y582*|NLGN4X_ENST00000381092.1_Nonsense_Mutation_p.Y582*|NLGN4X_ENST00000381093.2_Nonsense_Mutation_p.Y602*|NLGN4X_ENST00000275857.6_Nonsense_Mutation_p.Y582*	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	582					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCGTTGCCCGGTAGTGATCTC	0.463000													23	59					0	0	0.134883	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267784	43267784	+	Silent	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:43267784C>A	ENST00000372585.5	+	5	902	c.807C>A	c.(805-807)gcC>gcA	p.A269A	SLC22A7_ENST00000372574.3_Silent_p.A267A|SLC22A7_ENST00000372589.3_Silent_p.A267A|SLC22A7_ENST00000487175.1_3'UTR	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	269						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCCTTGTGCCCCAGGCATCC	0.577000													15	119					1.33834e-09	1.77955e-09	0.189662	1	0
SLC4A4	8671	broad.mit.edu	37	4	72423493	72423493	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:72423493G>T	ENST00000340595.3	+	19	2892	c.2696G>T	c.(2695-2697)cGt>cTt	p.R899L	SLC4A4_ENST00000351898.6_Missense_Mutation_p.R859L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.R943L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R943L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	943						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATCTACCTGCGTCATGTTCCT	0.507000													5	67					0.00307968	0.00334851	0.278610	1	0
TTN	7273	broad.mit.edu	37	2	179647563	179647563	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr2:179647563C>A	ENST00000589042.1	-	18	3294	c.3070G>T	c.(3070-3072)Gtc>Ttc	p.V1024F	TTN_ENST00000460472.2_Missense_Mutation_p.V978F|TTN_ENST00000342992.6_Missense_Mutation_p.V1024F|TTN_ENST00000342175.6_Missense_Mutation_p.V978F|TTN_ENST00000591111.1_Missense_Mutation_p.V1024F|TTN_ENST00000360870.5_Missense_Mutation_p.V1024F|TTN_ENST00000359218.5_Missense_Mutation_p.V978F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1024	Ig-like 3.						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)			GATGTGCTGACGGTTCCAGCC	0.498000													9	53					9.70103e-10	1.30012e-09	0.069234	1	0
CTAGE6	340307	broad.mit.edu	37	7	143453572	143453572	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:143453572C>A	ENST00000470691.2	-	1	1217	c.1180G>T	c.(1180-1182)Gat>Tat	p.D394Y		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					TTCATTTCATCTTCTTGATAG	0.343000													6	52					0.0215528	0.0224541	0.217242	1	0
FAM65C	140876	broad.mit.edu	37	20	49232617	49232617	+	Splice_Site	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:49232617C>T	ENST00000327979.2	-	4	669	c.257_splice	c.e4-1	p.K86_splice	FAM65C_ENST00000535356.1_Splice_Site_p.K90_splice|FAM65C_ENST00000045083.2_Splice_Site_p.K86_splice			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	86										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAGATACTCCCTGCAAGGAA	0.547000													4	32					0	0	0.184627	0	0
ZNF229	7772	broad.mit.edu	37	19	44932736	44932736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:44932736G>T	ENST00000291187.4	-	6	2524	c.2202C>A	c.(2200-2202)taC>taA	p.Y734*	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Nonsense_Mutation_p.Y740*	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGTGGCATCTGTATGGCTTCT	0.493000													5	38					1.23904e-05	1.45557e-05	0.184627	1	0
SCRT1	83482	broad.mit.edu	37	8	145557236	145557236	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:145557236G>T	ENST00000332135.4	-	2	769	c.658C>A	c.(658-660)Ctg>Atg	p.L220M		NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGCCGCGCCAGCTGGCTGTCC	0.697000													7	25					6.40141e-05	7.32702e-05	0.080935	1	0
ZNF668	79759	broad.mit.edu	37	16	31073585	31073585	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:31073585G>A	ENST00000538906.1	-	3	1448	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	ZNF668_ENST00000535577.1_Missense_Mutation_p.R222C|ZNF668_ENST00000539836.3_Missense_Mutation_p.R245C|ZNF668_ENST00000394983.2_Missense_Mutation_p.R222C|ZNF668_ENST00000426488.2_Missense_Mutation_p.R245C|ZNF668_ENST00000300849.4_Missense_Mutation_p.R222C	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGGAAGGGGCGCTCGCCGGTG	0.657000													6	27					0	0	0.248553	0	0
PKD2	5311	broad.mit.edu	37	4	88959545	88959545	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:88959545G>T	ENST00000237596.2	+	4	1052	c.986G>T	c.(985-987)gGa>gTa	p.G329V		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	329						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GTCAGAAATGGATCCTGCTCT	0.488000													11	45					5.16669e-11	7.25735e-11	0.080935	1	0
TMEM64	169200	broad.mit.edu	37	8	91643889	91643889	+	Missense_Mutation	SNP	C	C	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:91643889C>A	ENST00000458549.2	-	2	1019	c.842G>T	c.(841-843)gGa>gTa	p.G281V	TMEM64_ENST00000519519.1_Missense_Mutation_p.G20V|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	281						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AGGAAGCAGTCCAACCGAAGA	0.388000													11	93					4.3838e-07	5.42848e-07	0.105934	1	0
TENM3	55714	broad.mit.edu	37	4	183603152	183603152	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:183603152C>T	ENST00000511685.1	+	11	2143	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.P674S					teneurin transmembrane protein 3																		CTGGACTGGCCCAGACTGCTC	0.438000													11	70					0	0	0.119110	0	0
NPY5R	4889	broad.mit.edu	37	4	164271804	164271804	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr4:164271804G>T	ENST00000515560.1	+	4	1901	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F	NPY5R_ENST00000506953.1_Missense_Mutation_p.V127F|NPY5R_ENST00000338566.3_Missense_Mutation_p.V127F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	127					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCAGTTTTGGTTTCAACTTT	0.358000													13	132					7.93312e-07	9.68207e-07	0.119110	1	0
GRM8	2918	broad.mit.edu	37	7	126173386	126173386	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:126173386C>T	ENST00000339582.2	-	9	2858	c.2050G>A	c.(2050-2052)Gtc>Atc	p.V684I	GRM8_ENST00000444921.2_Missense_Mutation_p.V684I|GRM8_ENST00000358373.3_Missense_Mutation_p.V684I|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	684					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGCGCTGTGACAGATTTCTTC	0.507000										HNSCC(24;0.065)			30	106					0	0	0.246493	0	0
CWC27	10283	broad.mit.edu	37	5	64082385	64082385	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:64082385G>A	ENST00000508024.1	+	6	731	c.530G>A	c.(529-531)aGg>aAg	p.R177K	CWC27_ENST00000381070.3_Missense_Mutation_p.R177K			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	177					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						ATCATTCCAAGGGAAATTAAA	0.313000													6	28					0	0	0.248553	0	0
NAGS	162417	broad.mit.edu	37	17	42082046	42082046	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:42082046G>A	ENST00000293404.3	+	1	133	c.15G>A	c.(13-15)ctG>ctA	p.L5L		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	5					arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	CGACGGCGCTGATGGCTGTGG	0.697000													4	33					0	0	0.217242	0	0
ELAC1	55520	broad.mit.edu	37	18	48513137	48513137	+	Silent	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr18:48513137G>T	ENST00000269466.3	+	4	881	c.774G>T	c.(772-774)gtG>gtT	p.V258V	ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	258					tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CTGGGGTTGTGGGTGATGGAG	0.458000													3	44					0.150653	0.153554	0.150653	1	0
NPLOC4	55666	broad.mit.edu	37	17	79556065	79556065	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:79556065G>A	ENST00000374747.5	-	12	1315	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	NPLOC4_ENST00000539314.1_Missense_Mutation_p.R235C|NPLOC4_ENST00000331134.6_Missense_Mutation_p.R396C			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	396					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CACTCATCACGGACCAGTGCC	0.502000													11	61					0	0	0.069234	0	0
NEK11	79858	broad.mit.edu	37	3	130947378	130947378	+	Missense_Mutation	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:130947378C>T	ENST00000383366.4	+	15	1699	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	NEK11_ENST00000510688.1_Missense_Mutation_p.P469L|NEK11_ENST00000429253.2_Missense_Mutation_p.P469L|NEK11_ENST00000412440.2_Missense_Mutation_p.P285L|NEK11_ENST00000508196.1_Missense_Mutation_p.P469L|NEK11_ENST00000510769.1_Missense_Mutation_p.P364L	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	469					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCAGAGATCCCAGAAGACCCA	0.368000													10	202					0	0	0.105934	0	0
DNAH3	55567	broad.mit.edu	37	16	21170708	21170708	+	Missense_Mutation	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:21170708G>T	ENST00000261383.3	-	1	54	c.55C>A	c.(55-57)Cca>Aca	p.P19T	TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.P19T|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572599.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	19	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAAGGCTGGGCCCGGATGG	0.627000													17	170					1.33834e-09	1.77955e-09	0.189662	1	0
PPL	5493	broad.mit.edu	37	16	4949122	4949122	+	Splice_Site	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr16:4949122C>G	ENST00000345988.2	-	8	858		c.e8-1		PPL_ENST00000590782.2_Splice_Site	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin						keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGATGAAATTCTGCAGTGGGG	0.657000													7	89					0	0	0.047766	0	0
LILRB1	10859	broad.mit.edu	37	19	55144084	55144084	+	Silent	SNP	C	C	G			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr19:55144084C>G	ENST00000396331.1	+	7	1188	c.831C>G	c.(829-831)ctC>ctG	p.L277L	LILRB1_ENST00000427581.2_Silent_p.L313L|LILRB1_ENST00000434867.2_Silent_p.L277L|LILRB1_ENST00000396317.1_Silent_p.L277L|LILRB1_ENST00000396315.1_Silent_p.L277L|LILRB1_ENST00000418536.2_Silent_p.L277L|LILRB1_ENST00000396321.2_Silent_p.L277L|LILRB1_ENST00000448689.1_Silent_p.L277L|LILRB1_ENST00000396332.4_Silent_p.L277L|LILRB1_ENST00000324602.7_Silent_p.L277L|LILRB1_ENST00000396327.3_Silent_p.L277L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	277	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCTGGGCTCTCCCAGGCCA	0.617000										HNSCC(37;0.09)			95	86					0	0	0.139131	0	0
ITPR1	3708	broad.mit.edu	37	3	4702672	4702672	+	Splice_Site	SNP	G	G	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:4702672G>T	ENST00000302640.8	+	13	1457	c.1106_splice	c.e13-1	p.R369_splice	ITPR1_ENST00000456211.2_Splice_Site_p.R369_splice|ITPR1_ENST00000443694.2_Splice_Site_p.R369_splice|ITPR1_ENST00000423119.2_Splice_Site_p.R384_splice|ITPR1_ENST00000357086.4_Splice_Site_p.R384_splice|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Splice_Site_p.R384_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	384	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCCCTGTTAGGAACTCTTATG	0.373000													6	16					0.00198382	0.00216254	0.248553	1	0
MYRIP	25924	broad.mit.edu	37	3	40231823	40231823	+	Missense_Mutation	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr3:40231823G>A	ENST00000302541.6	+	10	1876	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.E512K|MYRIP_ENST00000425621.1_Missense_Mutation_p.E512K|MYRIP_ENST00000396217.3_Missense_Mutation_p.E423K|MYRIP_ENST00000539167.1_Missense_Mutation_p.E325K	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	512	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGACAGCAGCGAGCCGGAGGA	0.647000													19	70					0	0	0.249174	0	0
TRIM16	10626	broad.mit.edu	37	17	15535029	15535029	+	Splice_Site	SNP	C	C	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:15535029C>T	ENST00000455584.2	-	5	1059		c.e5-1		TRIM16_ENST00000578237.1_Splice_Site|TRIM16_ENST00000577886.1_Splice_Site|TRIM16_ENST00000416464.2_Splice_Site|TRIM16_ENST00000579219.1_Intron|TRIM16_ENST00000336708.7_Splice_Site														p.?(1)									TCATACTCCTCTAGAAAATCA	0.502000													3	59					0	0	0.115264	0	0
TROVE2	6738	broad.mit.edu	37	1	193046117	193046117	+	Silent	SNP	G	G	A			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:193046117G>A	ENST00000432079.1	+	4	766	c.198G>A	c.(196-198)ctG>ctA	p.L66L	TROVE2_ENST00000400968.2_Silent_p.L341L|TROVE2_ENST00000367446.3_Silent_p.L341L|TROVE2_ENST00000416058.2_Silent_p.L66L|TROVE2_ENST00000367445.3_Silent_p.L341L|TROVE2_ENST00000367444.3_Silent_p.L341L|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Silent_p.L341L|TROVE2_ENST00000367441.1_Silent_p.L341L			P10155	RO60_HUMAN	TROVE domain family, member 2	341	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GAGGGAAACTGAAGTGGCGCC	0.333000													4	39					0	0	0.184627	0	0
RPTN	126638	broad.mit.edu	37	1	152128169	152128172	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr1:152128169_152128172delTGTC	ENST00000316073.3	-	3	1467_1470	c.1403_1406delGACA	c.(1402-1407)aafs	p.RQ468fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	468	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.500													7	1474	---	---	---	---					
PCDHB16	57717	broad.mit.edu	37	5	140562653	140562653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr5:140562653delC	ENST00000361016.2	+	1	1674	c.519delC	c.(517-519)agfs	p.S173fs		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		173	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAAAATCAGCCCAAGCTCTC	0.443													13	62	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152719836	152719836	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr6:152719836delA	ENST00000367255.5	-	49	7869	c.7268delT	c.(7267-7269)tgfs	p.L2423fs	SYNE1_ENST00000265368.4_Frame_Shift_Del_p.L2423fs|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.L2430fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.L2430fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.L2461fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2423					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCTCCCAAAAACCATTC	0.378										HNSCC(10;0.0054)			7	219	---	---	---	---					
GPR37	2861	broad.mit.edu	37	7	124404542	124404542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr7:124404542delC	ENST00000303921.2	-	1	1139	c.489delG	c.(487-489)ggfs	p.G163fs		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	163						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTGGCTACGCCCGGAAATGC	0.597													44	191	---	---	---	---					
MCPH1	79648	broad.mit.edu	37	8	6293637	6293638	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr8:6293637_6293638insT	ENST00000344683.5	+	5	466_467	c.390_391insT	c.(388-393)aattgafs	p.*131fs	MCPH1_ENST00000522905.1_Frame_Shift_Ins_p.*131fs|MCPH1_ENST00000519480.1_Frame_Shift_Ins_p.*131fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	131						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TTCAGAAGAAATTTGAGAAAAT	0.307													8	86	---	---	---	---					
GDF10	2662	broad.mit.edu	37	10	48426650	48426650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr10:48426650delC	ENST00000224605.2	-	3	1622	c.1357delG	c.(1357-1359)tcfs	p.V453fs		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	453					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGGAAGAGGACCCCAAGGGAG	0.567											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	171	---	---	---	---					
ANO3	63982	broad.mit.edu	37	11	26552790	26552790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr11:26552790delC	ENST00000256737.3	+	8	1628	c.776delC	c.(775-777)gcfs	p.A259fs	ANO3_ENST00000525139.1_Frame_Shift_Del_p.A243fs|ANO3_ENST00000531568.1_Frame_Shift_Del_p.A113fs|ANO3_ENST00000537978.1_Frame_Shift_Del_p.A243fs	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	259						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AACTGGATGGCCCAAAACCCA	0.443													13	166	---	---	---	---					
OR6C6	283365	broad.mit.edu	37	12	55688949	55688950	+	Frame_Shift_Ins	INS	-	-	T			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr12:55688949_55688950insT	ENST00000358433.2	-	1	66_67	c.67_68insA	c.(67-69)tgtfs	p.C23fs		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GAAAATCACAATTTGCAACTGT	0.411													34	119	---	---	---	---					
PABPN1	8106	broad.mit.edu	37	14	23791005	23791005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:23791005delG	ENST00000397276.2	+	1	340	c.327delG	c.(325-327)ccfs	p.P109fs	BCL2L2-PABPN1_ENST00000557008.1_Intron|PABPN1_ENST00000216727.4_Frame_Shift_Del_p.P109fs|PABPN1_ENST00000556821.1_5'UTR|AL049829.1_ENST00000594872.1_Frame_Shift_Del_p.P38fs|BCL2L2-PABPN1_ENST00000553781.1_Intron					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGGGTGACCCGGGGGACGGCG	0.781													2	4	---	---	---	---					
ZBTB1	22890	broad.mit.edu	37	14	64990096	64990098	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr14:64990096_64990098delATG	ENST00000358738.3	+	2	2265_2267	c.1874_1876delATG	c.(1873-1878)aat>a	p.ND625del	ZBTB1_ENST00000554015.1_In_Frame_Del_p.ND625del|ZBTB1_ENST00000394712.2_In_Frame_Del_p.ND625del|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CGACTGCACAATGATATGCACAA	0.389													10	231	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29676187	29676187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:29676187delA	ENST00000358273.4	+	49	7622	c.7239delA	c.(7237-7239)ttfs	p.L2413fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L2392fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.L206fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.L126fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2413					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCAGAATTTTACATACACTAC	0.333			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	21	---	---	---	---					
LRRC37B	114659	broad.mit.edu	37	17	30380297	30380297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr17:30380297delA	ENST00000327564.7	+	12	2936	c.2875delA	c.(2875-2877)aafs	p.K959fs	LRRC37B_ENST00000341671.7_Frame_Shift_Del_p.K932fs|LRRC37B_ENST00000543378.2_Frame_Shift_Del_p.K850fs|LRRC37B_ENST00000584368.1_Frame_Shift_Del_p.K893fs|LRRC37B_ENST00000394713.3_Frame_Shift_Del_p.K881fs			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	932						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GAATTCACATAAAAGGGCATC	0.348													17	105	---	---	---	---					
RRBP1	6238	broad.mit.edu	37	20	17640883	17640883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chr20:17640883delG	ENST00000377813.1	-	3	573	c.270delC	c.(268-270)ccfs	p.P90fs	RRBP1_ENST00000360807.4_Frame_Shift_Del_p.P90fs|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Frame_Shift_Del_p.P90fs|RRBP1_ENST00000246043.4_Frame_Shift_Del_p.P90fs			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	90					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAGTCACATTGGGGGCTGGAT	0.517													9	17	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41084348	41084348	+	Frame_Shift_Del	DEL	T	T	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:41084348delT	ENST00000324545.7	+	41	7652	c.7019delT	c.(7018-7020)ctfs	p.L2341fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.L2341fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2341					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGGATCTGCTTTTGCAAATC	0.388													31	78	---	---	---	---					
KIAA1210	57481	broad.mit.edu	37	X	118221541	118221541	+	Frame_Shift_Del	DEL	C	C	-			TCGA-69-7978-01A-11D-2184-08	TCGA-69-7978-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a70efd3-03b6-4ad7-8281-b15e1a6b323e	4f87aab5-4d95-4b4e-b102-80adeaf0017e	g.chrX:118221541delC	ENST00000402510.2	-	11	3651	c.3652delG	c.(3652-3654)cafs	p.A1218fs		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1218										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGCAGAGGTGCCACATCACTG	0.478													8	18	---	---	---	---