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
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													10	361					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43236960	43236960	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:43236960C>T	ENST00000327495.5	-	3	869	c.685G>A	c.(685-687)Gac>Aac	p.D229N	PSG3_ENST00000595140.1_Missense_Mutation_p.D229N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	229	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.D229N(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGACTGGGTCACTGCGGCTG	0.527000													313	942					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69101202	69101202	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:69101202G>A	ENST00000543976.1	-	1	282	c.36C>T	c.(34-36)ttC>ttT	p.F12F	TMF1_ENST00000398559.2_Silent_p.F12F|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	12					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.F12F(3)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCTGCTTAGCGAAGCTGGAGA	0.637000													4	77					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179012850	179012850	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:179012850C>T	ENST00000377001.2	+	8	1010	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	RUFY1_ENST00000393438.2_Missense_Mutation_p.S229L|RUFY1_ENST00000437570.2_Missense_Mutation_p.S229L|RUFY1_ENST00000319449.4_Missense_Mutation_p.S337L			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	337					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.S229L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACTAACTCAAAGCTTCAA	0.353000										HNSCC(44;0.11)			6	112					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240421306	240421306	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:240421306A>G	ENST00000319653.9	+	7	4357	c.4127A>G	c.(4126-4128)cAt>cGt	p.H1376R	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1376	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	p.H1519R(2)		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)			TCTAGCCTTCATTTAGATATG	0.323000													40	153					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007729	110007729	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:110007729C>T	ENST00000453089.2	+	1	1151	c.270C>T	c.(268-270)tgC>tgT	p.C90C	ZC3H12C_ENST00000528673.1_Silent_p.C122C|ZC3H12C_ENST00000278590.3_Silent_p.C121C			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	121							endonuclease activity|nucleic acid binding|zinc ion binding	p.C121C(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GACAGCTCTGCAGGTCTCCCT	0.428000													29	24					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159894386	159894386	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:159894386C>G	ENST00000434826.2	-	2	226	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	48								p.E48Q(2)		large_intestine(2)|lung(3)	5						CCAGTTTTTTCTAACGCCAGA	0.378000													49	48					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6732203	6732203	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:6732203C>G	ENST00000405858.1	-	5	911	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	ZNF12_ENST00000404360.1_Intron|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Intron	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E124Q(2)		NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTTCGTTTCTACATCAAAA	0.368000													115	212					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525231	248525231	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:248525231C>A	ENST00000366475.1	+	1	349	c.349C>A	c.(349-351)Cag>Aag	p.Q117K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q117K(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GCTCCTGGACCAGGTCATGGG	0.493000													428	331					1.32631e-174	1.85476e-174	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17202725	17202725	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:17202725C>G	ENST00000261381.6	-	12	2791	c.2707G>C	c.(2707-2709)Gag>Cag	p.E903Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	903					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E903Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCCATCCCTCCAGCGCTGTG	0.667000													39	78					0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56236046	56236046	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:56236046G>A	ENST00000264228.4	+	5	973	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000510637.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	249					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.E249K(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			AGACTGGTTTGAATATGTTTC	0.423000													44	190					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137748465	137748465	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:137748465C>A	ENST00000413152.2	+	1	4	c.4C>A	c.(4-6)Cat>Aat	p.H2N	THSD7B_ENST00000409968.1_Intron|THSD7B_ENST00000272643.3_Intron	NM_001080427.1	NP_001073896.1			thrombospondin, type I, domain containing 7B									p.H2N(1)		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)		CGAAACGATGCATAACACAGC	0.403000													22	47					6.32553e-13	7.12119e-13	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25422019	25422019	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:25422019G>A	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							GAAGAGAGGTGATGACTTAAA	0.542000													23	73					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79517286	79517286	+	Missense_Mutation	SNP	T	T	C	rs151231414	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:79517286T>C	ENST00000537152.1	-	3	1306	c.781A>G	c.(781-783)Agg>Ggg	p.R261G	C17orf70_ENST00000327787.8_Missense_Mutation_p.R412G	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	412					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.R261G(1)|p.R412G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCATGCGTCCTGGGAGACGCG	0.612000													3	19					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524025	24524025	+	Missense_Mutation	SNP	G	G	A	rs139628724	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:24524025G>A	ENST00000376862.3	+	2	925	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	98					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.V98M(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TTCAGAGGGCGTGCTGCGCTC	0.652000													21	58					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589711	156589711	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:156589711G>T	ENST00000302938.4	-	2	1660	c.1565C>A	c.(1564-1566)tCt>tAt	p.S522Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	522						nucleus		p.S522Y(2)		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)			TCCTGTGCTAGATGCAGATTG	0.502000													70	54					6.88731e-43	8.80592e-43	1	1	0
USP39	10713	broad.mit.edu	37	2	85868209	85868209	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:85868209G>C	ENST00000323701.6	+	10	1405	c.1395G>C	c.(1393-1395)gaG>gaC	p.E465D	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Missense_Mutation_p.E465D|USP39_ENST00000450066.2_Missense_Mutation_p.E362D|USP39_ENST00000409025.1_Missense_Mutation_p.E465D|USP39_ENST00000409766.3_Missense_Mutation_p.E465D	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	465					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.E465D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TCTTTGTTGAGAAGAATCCAA	0.393000													4	81					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132352188	132352188	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:132352188C>T	ENST00000310125.4	-	1	188	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	34						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V34M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AGCGGGTTCACGGTGGAGGTG	0.532000													4	18					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17983959	17983959	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:17983959C>T	ENST00000262608.8	+	6	658	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	CECR2_ENST00000400573.4_Missense_Mutation_p.R239C|CECR2_ENST00000342247.5_Missense_Mutation_p.R219C|CECR2_ENST00000400585.2_Missense_Mutation_p.R98C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	261					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.R239C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGAGAGTTTTCGCGAGAGGAC	0.562000													42	94					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:5283318C>A	ENST00000546004.1	-	3	769	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	PROKR2_ENST00000217270.3_Missense_Mutation_p.A175S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A175S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493000										HNSCC(71;0.22)			103	205					9.56113e-55	1.2772e-54	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141055419	141055419	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:141055419A>T	ENST00000389484.3	-	84	13896	c.12925T>A	c.(12925-12927)Tgc>Agc	p.C4309S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4309	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C4309S(2)		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)		TGGCAGTGGCAGTAAGGCTGG	0.468000										TSP Lung(27;0.18)			252	547					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368000													6	78					0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126540	82126540	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:82126540C>G	ENST00000372199.1	+	6	965	c.367C>G	c.(367-369)Cca>Gca	p.P123A	DYDC2_ENST00000372197.1_Missense_Mutation_p.P123A|DYDC2_ENST00000372198.1_Missense_Mutation_p.P137A|DYDC2_ENST00000256039.2_Missense_Mutation_p.P123A|DYDC2_ENST00000444807.2_Missense_Mutation_p.P123A			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	123							protein binding	p.P123A(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GGAATTCCTGCCAGGTACTTC	0.468000													50	90					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064233	7064233	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:7064233G>C	ENST00000299481.4	+	4	1322	c.976G>C	c.(976-978)Gag>Cag	p.E326Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	326	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E326Q(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCATTATGTAGAGCTACTAGG	0.403000													81	220					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173710	51173710	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:51173710G>T	ENST00000440970.1	-	2	2563	c.2132C>A	c.(2131-2133)tCt>tAt	p.S711Y	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S808Y|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	808					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S808Y(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCTGTGTCAGACTCCATGGA	0.507000													78	151					1.4051e-37	1.75884e-37	1	1	0
COX4I1	1327	broad.mit.edu	37	16	85838571	85838571	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:85838571G>A	ENST00000564903.1	+	2	106	c.102G>A	c.(100-102)tcG>tcA	p.S34S	COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000562336.1_Silent_p.S34S|COX4I1_ENST00000253452.2_Silent_p.S34S|COX4I1_ENST00000561569.1_Silent_p.S34S|COX4I1_ENST00000568794.1_Silent_p.S34S			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	34					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	p.S34S(2)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				AAGACTTTTCGCTCCCAGCTT	0.473000													19	33					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	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													6	67					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564758	37564758	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:37564758G>A	ENST00000300651.6	-	17	3939	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1239	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S1239L(2)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCAGAGCTTGAACTAGTTCC	0.502000										HNSCC(31;0.082)			15	51					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33212662	33212662	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:33212662T>C	ENST00000396033.2	-	7	928	c.793A>G	c.(793-795)Att>Gtt	p.I265V	ITGB1_ENST00000423113.1_Missense_Mutation_p.I265V|ITGB1_ENST00000374956.4_Missense_Mutation_p.I265V|ITGB1_ENST00000302278.3_Missense_Mutation_p.I265V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	265	VWFA.			CGSLI -> VWMLL (in Ref. 6; AAI13902).	axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.I265V(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTCCAGCCAATCAGTGACTTG	0.368000													3	63					0	0	1	0	0
ASIP	434	broad.mit.edu	37	20	32850663	32850663	+	Silent	SNP	C	C	T	rs149537165		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:32850663C>T	ENST00000568305.1	+	3	388	c.186C>T	c.(184-186)atC>atT	p.I62I	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Silent_p.I62I			P42127	ASIP_HUMAN	agouti signaling protein	62	Arg/Lys-rich (basic).				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		p.I62I(1)		central_nervous_system(1)|lung(2)	3						CCAAACAGATCGGCAGAAAAG	0.468000													15	87					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131519842	131519842	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:131519842C>A	ENST00000423981.1	+	2	307	c.197C>A	c.(196-198)cCc>cAc	p.P66H	AMER3_ENST00000321420.4_Missense_Mutation_p.P66H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GACAGATGCCCCAACAAAGGG	0.632000													2	0					1	1	1	1	0
ISL1	3670	broad.mit.edu	37	5	50683505	50683505	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:50683505G>A	ENST00000230658.7	+	3	985	c.400G>A	c.(400-402)Gat>Aat	p.D134N	ISL1_ENST00000511384.1_Missense_Mutation_p.D134N|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	134					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D134N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGCAGACCACGATGTGGTGGA	0.652000													38	63					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55060292	55060292	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:55060292G>A	ENST00000371316.3	+	6	617	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.E179K	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	179					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.E179K(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGTGGCGGCTGAGCGCCGGCG	0.642000													4	32					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186643668	186643668	+	Silent	SNP	G	G	A	rs139087930		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:186643668G>A	ENST00000367468.5	-	10	1768	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	544					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.I544I(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGTGTTGATGATTTGAAAAC	0.433000													125	360					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95114416	95114416	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:95114416G>T	ENST00000377028.5	-	5	1304	c.891C>A	c.(889-891)acC>acA	p.T297T	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Silent_p.T297T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	297					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.T297T(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CATTGCACAAGGTGACCAGGT	0.413000													39	64					1.19451e-25	1.44471e-25	1	1	0
NEU2	4759	broad.mit.edu	37	2	233897387	233897387	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:233897387G>A	ENST00000233840.3	+	1	6	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	2							exo-alpha-sialidase activity	p.A2A(2)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCCCCATGGCGTCCCTTCCTG	0.617000													61	54					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749265	33749265	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:33749265T>A	ENST00000394562.1	-	4	1306	c.783A>T	c.(781-783)gaA>gaT	p.E261D	SLFN12_ENST00000304905.5_Missense_Mutation_p.E261D|SLFN12_ENST00000452764.3_Missense_Mutation_p.E261D			Q8IYM2	SLN12_HUMAN	schlafen family member 12	261							ATP binding	p.E261D(2)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGATTTCTCTTTCTAAGTCAT	0.338000													116	202					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102303140	102303140	+	RNA	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:102303140G>C	ENST00000561463.1	+	0	11186																											ACCTGCACTAGCGTGGGAACG	0.602000													3	11					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195706728	195706728	+	RNA	SNP	C	C	T	rs3963740	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:195706728C>T	ENST00000427841.1	-	0	908					NR_003264.2																						CAAGTAGTTGCGCCAGTAGCC	0.597000													3	26					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741992	140741992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:140741992G>T	ENST00000522605.1	+	1	2290	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.E764*(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAGACAGAGTTCAATTT	0.498000													107	81					1.73015e-75	2.34619e-75	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25459873	25459873	+	Splice_Site	SNP	G	G	A	rs35824014		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:25459873G>A	ENST00000264709.3	-	21	2747	c.2408_splice	c.e21-1	p.P804_splice	DNMT3A_ENST00000380746.4_Splice_Site_p.P615_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.P804_splice|DNMT3A_ENST00000402667.1_Splice_Site_p.P581_splice|DNMT3A_ENST00000474887.1_Intron	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	804					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCAACGGCCTAGGAGGC	0.582000			"""Mis, F, N, S"""		AML								16	20					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181708376	181708376	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:181708376G>T	ENST00000526775.1	+	24	3814	c.3649G>T	c.(3649-3651)Gcc>Tcc	p.A1217S	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1236S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A843S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1217S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1187S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1236S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1168S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1236					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1236S(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCATTGGTGGCCTTTGCTCT	0.498000													434	355					7.81476e-304	1.10145e-303	1	1	0
ALKBH1	8846	broad.mit.edu	37	14	78140367	78140367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:78140367C>A	ENST00000216489.3	-	6	973	c.958G>T	c.(958-960)Gag>Tag	p.E320*		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	320	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E320*(1)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAACAAGGCTCTACCATTGAA	0.562000													23	252					6.21074e-16	7.12643e-16	1	1	0
SLC32A1	140679	broad.mit.edu	37	20	37356981	37356981	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:37356981G>T	ENST00000217420.1	+	2	1540	c.1277G>T	c.(1276-1278)gGg>gTg	p.G426V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	426					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.G426V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGCGGCGACGGGCGCCTGAAG	0.642000													5	8					3.59834e-05	3.74478e-05	1	1	0
FARSB	10056	broad.mit.edu	37	2	223489197	223489197	+	Splice_Site	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:223489197C>G	ENST00000281828.6	-	12	1227	c.962_splice	c.e12-1	p.E322_splice	FARSB_ENST00000536361.1_Splice_Site_p.E223_splice	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	322	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.E322Q(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TCTGGAGTTTCTCTGAAAAAG	0.343000													9	25					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96124962	96124962	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:96124962A>C	ENST00000458427.1	+	1	1805	c.1149A>C	c.(1147-1149)agA>agC	p.R383S	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.R383S	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	383	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R383S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CCATTAGCAGAGCATGGAAGA	0.408000													8	400					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_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	18					6.40141e-05	6.62343e-05	1	1	0
AKAP11	11215	broad.mit.edu	37	13	42876365	42876365	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:42876365G>T	ENST00000025301.2	+	8	3658	c.3483G>T	c.(3481-3483)gaG>gaT	p.E1161D		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1161					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.E1161D(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAAAAGAAGAGTTCATGTTGA	0.428000													39	75					3.54561e-26	4.31744e-26	1	1	0
DYNLT1	6993	broad.mit.edu	37	6	159065728	159065728	+	Missense_Mutation	SNP	G	G	C	rs151068285		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:159065728G>C	ENST00000367085.3	-	1	42	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	DYNLT1_ENST00000367089.3_Missense_Mutation_p.Q5E			P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	5					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	p.Q5E(2)		lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		TCCGCAGCCTGGTAGTCTTCC	0.726000													3	1					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													3	40					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98218671	98218671	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:98218671C>A	ENST00000430669.2	-	19	3580	c.2995G>T	c.(2995-2997)Gtc>Ttc	p.V999F	PTCH1_ENST00000437951.1_Missense_Mutation_p.V999F|PTCH1_ENST00000331920.6_Missense_Mutation_p.V1065F|PTCH1_ENST00000421141.1_Missense_Mutation_p.V914F|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1064F|PTCH1_ENST00000418258.1_Missense_Mutation_p.V914F|PTCH1_ENST00000429896.2_Missense_Mutation_p.V914F			Q13635	PTC1_HUMAN	patched 1	1065					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1065F(4)|p.V1064F(4)|p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACAGCTCGACCGTCATCAGC	0.627000													16	47					1.99824e-07	2.16778e-07	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9203982	9203982	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:9203982C>A	ENST00000429566.3	+	1	128	c.62C>A	c.(61-63)cCa>cAa	p.P21Q		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21Q(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCAGAAAAGCCAGAGCAGGAG	0.507000													69	32					3.14276e-30	3.87969e-30	1	1	0
ANO7	50636	broad.mit.edu	37	2	242141661	242141661	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:242141661T>C	ENST00000274979.8	+	8	930	c.827T>C	c.(826-828)cTt>cCt	p.L276P	ANO7_ENST00000402430.3_Missense_Mutation_p.L275P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	276						cell junction|chloride channel complex|cytosol	chloride channel activity	p.L276P(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAAAACCTGCTTGGGATCCAC	0.612000													7	14					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132326281	132326281	+	Silent	SNP	G	G	A	rs76305475	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:132326281G>A	ENST00000360564.1	+	5	921	c.819G>A	c.(817-819)ccG>ccA	p.P273P	MMP17_ENST00000535291.1_Silent_p.P189P|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	273					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P273P(1)		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)		ACCAGGGCCCGGTGGGTGACC	0.647000													3	3					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512261	4512261	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:4512261C>G	ENST00000301286.3	-	3	1668	c.1669G>C	c.(1669-1671)Ggg>Cgg	p.G557R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	557	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G557R(2)|p.G485R(2)		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						CCCGTGAGCCCAGTGGACATC	0.612000													5	38					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574038	41574038	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:41574038A>G	ENST00000263253.7	+	31	7542	c.6323A>G	c.(6322-6324)cAg>cGg	p.Q2108R	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2108	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGCATGCCCCAGGGGCAGCCA	0.612000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	49					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136291428	136291428	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:136291428G>C	ENST00000371929.3	+	6	1093	c.649G>C	c.(649-651)Gac>Cac	p.D217H	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.D217H|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.D217H	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	217	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.D217H(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACTGGCTTCGACCTGGGAGT	0.637000													7	19					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132075715	132075715	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:132075715C>T	ENST00000336375.5	+	10	1244	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	ACPP_ENST00000351273.7_Intron|ACPP_ENST00000475741.1_Missense_Mutation_p.T352I	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	385						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.T385I(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAAGACAGTACAGATTAGTGT	0.502000													120	177					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55996691	55996691	+	Splice_Site	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:55996691C>A	ENST00000373965.2	-	9	1271	c.876_splice	c.e9-1	p.E293_splice	PCDH15_ENST00000395446.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395433.1_Splice_Site_p.E271_splice|PCDH15_ENST00000395445.1_Splice_Site_p.E293_splice|PCDH15_ENST00000320301.6_Splice_Site_p.E293_splice|PCDH15_ENST00000395438.1_Splice_Site_p.E293_splice|PCDH15_ENST00000373957.3_Splice_Site_p.E271_splice|PCDH15_ENST00000395442.1_Splice_Site_p.E293_splice|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395432.2_Splice_Site_p.E256_splice|PCDH15_ENST00000395440.1_Splice_Site_p.E293_splice|PCDH15_ENST00000414778.1_Splice_Site_p.E298_splice|PCDH15_ENST00000373955.1_Splice_Site_p.E293_splice|PCDH15_ENST00000361849.3_Splice_Site_p.E293_splice|PCDH15_ENST00000395430.1_Splice_Site_p.E293_splice|PCDH15_ENST00000437009.1_Splice_Site_p.E293_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	293	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E293*(4)|p.E298*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCAGTTCTTCCTGAAAAAAA	0.398000										HNSCC(58;0.16)			46	88					4.64027e-19	5.39355e-19	1	1	0
C8A	731	broad.mit.edu	37	1	57349288	57349288	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:57349288G>T	ENST00000361249.3	+	6	885	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	263	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.V263V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTATTGGTGGGTGTAGGTG	0.403000													47	101					3.40343e-31	4.23065e-31	1	1	0
REG1B	5968	broad.mit.edu	37	2	79314691	79314691	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:79314691G>C	ENST00000305089.3	-	2	128	c.48C>G	c.(46-48)ttC>ttG	p.F16L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	16					cell proliferation	extracellular region	sugar binding	p.F16L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGAGACAGGAACATCAGGG	0.473000													42	82					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204589053	204589053	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:204589053A>G	ENST00000367175.1	-	1	2280	c.68T>C	c.(67-69)gTa>gCa	p.V23A	LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Missense_Mutation_p.V23A|LRRN2_ENST00000367177.3_Missense_Mutation_p.V23A			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	23	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.V23A(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGCCAGGGTACCACGGGCAC	0.647000													37	42					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799512	67799512	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:67799512T>C	ENST00000377861.3	-	2	3747	c.3061A>G	c.(3061-3063)Ata>Gta	p.I1021V	PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000544246.1_Intron|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000377865.2_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAGTACTTATAGACCAGTAA	0.423000													31	57					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764617	109764617	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:109764617G>A	ENST00000602699.1	+	0	1078					NR_002718.2																						CTGAATGGGGGAACCTGCATG	0.577000													19	119					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615507	4615507	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:4615507C>T	ENST00000450052.2	+	2	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F	OR52I1_ENST00000530443.2_Missense_Mutation_p.S80F			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S105F(2)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCTCCTCCGTGGTACCC	0.502000													270	391					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													4	27					0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12668762	12668762	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:12668762G>A	ENST00000297029.5	+	9	1335	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	SCIN_ENST00000519209.1_Missense_Mutation_p.D165N|SCIN_ENST00000445618.2_Missense_Mutation_p.D165N	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	412	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.D412N(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GATCCAAGTTGACCAAAACTC	0.368000													53	115					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	534814	534814	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:534814T>A	ENST00000437048.2	-	8	809	c.663A>T	c.(661-663)gaA>gaT	p.E221D	VPS53_ENST00000291074.5_Missense_Mutation_p.E192D|VPS53_ENST00000571805.1_Missense_Mutation_p.E221D|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.E23D|VPS53_ENST00000576149.1_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	221					protein transport	endosome membrane|Golgi apparatus		p.E192D(2)|p.E221D(2)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AAGGAAACGCTTCTTCAAAAT	0.498000													94	115					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14803804	14803804	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr18:14803804C>A	ENST00000358984.4	+	24	2445	c.2265C>A	c.(2263-2265)acC>acA	p.T755T	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	840								p.T755T(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AATTCGATACCTTAAGTGGAA	0.323000													11	35					6.31663e-08	6.89437e-08	1	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173																											TTTTCTCTTCGGTGAGTAATC	0.388000													4	106					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44536520	44536520	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:44536520G>A	ENST00000542937.1	-	5	1103	c.569C>T	c.(568-570)aCg>aTg	p.T190M	PLTP_ENST00000477313.1_Missense_Mutation_p.T170M|PLTP_ENST00000420868.2_Missense_Mutation_p.T75M|PLTP_ENST00000354050.4_Missense_Mutation_p.T118M|PLTP_ENST00000372420.1_Missense_Mutation_p.T82M|PLTP_ENST00000372431.3_Missense_Mutation_p.T170M			P55058	PLTP_HUMAN	phospholipid transfer protein	170					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	p.T170M(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGTGATGAACGTGGAGAGAAA	0.582000													3	30					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15902236	15902236	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:15902236G>A	ENST00000277632.3	-	1	283	c.63C>T	c.(61-63)ctC>ctT	p.L21L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	21					apoptosis	nucleus	calcium ion binding	p.L21L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGGTGTCCGAGAGACCGGGGC	0.617000													12	16					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152248	66152248	+	RNA	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:66152248C>A	ENST00000489520.2	-	0	695					NR_026825.2																						ACTTCCCAGGCCAGCATCTAC	0.483000													14	63					2.4624e-09	2.7377e-09	1	1	0
CHKB-CPT1B	386593	broad.mit.edu	37	22	51018161	51018161	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:51018161G>A	ENST00000453634.1	-	1	20	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CHKB-CPT1B_ENST00000452668.1_Intron|CHKB_ENST00000406938.2_Silent_p.V342V														p.V342V(2)									CTCACCGACTGACTTCTACCA	0.522000													6	10					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109777480	109777480	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:109777480C>A	ENST00000356711.2	+	30	3616	c.3490C>A	c.(3490-3492)Cgc>Agc	p.R1164S	MYO16_ENST00000357550.2_Missense_Mutation_p.R1164S|MYO16_ENST00000457511.2_Missense_Mutation_p.R676S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1164	IQ.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.R1164S(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTTTAGCACGCCAGCACCT	0.393000													22	27					4.4004e-07	4.7166e-07	1	1	0
TMEM99	147184	broad.mit.edu	37	17	38991095	38991095	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:38991095C>T	ENST00000301665.3	+	3	631	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	109						integral to membrane		p.F109F(2)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTTGCTCTTCAACAACTGGA	0.493000													211	306					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997963	29997963	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:29997963C>T	ENST00000308893.4	+	16	3413	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G	TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000416441.2_Silent_p.G617G|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	790					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.G790G(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAATGCTTGGCGAGGAGGAGG	0.597000													21	35					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													12	59					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776193	5776193	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:5776193A>T	ENST00000317254.3	+	1	271	c.223A>T	c.(223-225)Atg>Ttg	p.M75L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M75L(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGACCTTGTTATGTGCTCTAG	0.458000													173	292					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44865727	44865727	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:44865727C>A	ENST00000558319.1	-	32	6253	c.6223G>T	c.(6223-6225)Gat>Tat	p.D2075Y	SPG11_ENST00000261866.7_Intron|SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Intron			Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	0					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGTTGGGAATCCCCGGGGGGT	0.502000													13	30					1.3612e-06	1.43327e-06	1	1	0
TXNDC15	79770	broad.mit.edu	37	5	134235280	134235280	+	Missense_Mutation	SNP	T	T	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:134235280T>G	ENST00000358387.4	+	5	1613	c.988T>G	c.(988-990)Tta>Gta	p.L330V	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L307V	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	330					cell redox homeostasis	integral to membrane		p.L330V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTATTTTCCTTATTCTTTTT	0.403000													20	21					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11720872	11720872	+	Missense_Mutation	SNP	C	C	T	rs148901217		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:11720872C>T	ENST00000381486.2	+	7	1115	c.815C>T	c.(814-816)cCg>cTg	p.P272L	GREB1_ENST00000381483.2_Missense_Mutation_p.P272L|GREB1_ENST00000234142.5_Missense_Mutation_p.P272L|GREB1_ENST00000389825.3_Missense_Mutation_p.P162L|GREB1_ENST00000263834.5_Missense_Mutation_p.P272L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	272						integral to membrane		p.P272L(6)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAATGGGTCCGGCTGTTTTC	0.532000													32	64					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166644	161166644	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:161166644C>T	ENST00000367996.4	-	2	1088	c.660G>A	c.(658-660)gtG>gtA	p.V220V	ADAMTS4_ENST00000367995.3_Silent_p.V220V	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	220	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.V220V(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCAGTGTCTCCACAAATCTAC	0.537000													147	231					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178691	57178691	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:57178691C>G	ENST00000554643.1	+	5	976	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HSD17B6_ENST00000554150.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555159.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000322165.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555805.1_Missense_Mutation_p.F209L			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	209					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	p.F209L(3)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	CTGGCTACTTCAGAACGGGAA	0.423000													56	101					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894107	123894107	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:123894107A>T	ENST00000375024.1	+	1	388	c.388A>T	c.(388-390)Agg>Tgg	p.R130W		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		TTACCCGCTCAGGTACACCAG	0.537000													181	148					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807951	215807951	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:215807951C>T	ENST00000366943.2	-	70	15533	c.15147G>A	c.(15145-15147)atG>atA	p.M5049I	USH2A_ENST00000307340.3_Missense_Mutation_p.M5049I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5049					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.M5049I(2)		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)		TCAAGCCCAGCATCGCCATTA	0.463000										HNSCC(13;0.011)			38	105					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5105125	5105125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:5105125G>T	ENST00000396912.1	+	5	2557	c.2038G>T	c.(2038-2040)Gaa>Taa	p.E680*	RBAK_ENST00000353796.3_Nonsense_Mutation_p.E680*|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	680	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E680*(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAACCCTATGAATGTAACGA	0.388000													75	160					2.20581e-54	2.92474e-54	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17466001	17466001	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:17466001G>T	ENST00000380647.3	+	22	3638	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	CNTLN_ENST00000425824.1_Missense_Mutation_p.C1185F|CNTLN_ENST00000262360.5_Missense_Mutation_p.C1185F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1185						centriole|membrane	two-component sensor activity	p.C1185F(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ACTGAAGAATGTTCCAACAAG	0.308000													34	59					1.47244e-24	1.75712e-24	1	1	0
XYLB	9942	broad.mit.edu	37	3	38454427	38454427	+	Splice_Site	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:38454427G>T	ENST00000207870.3	+	19	1624	c.1533_splice	c.e19-1	p.V512_splice	XYLB_ENST00000542835.1_Splice_Site_p.V375_splice|XYLB_ENST00000472721.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	512					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	p.V512F(2)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCCCTTCTAGGTCTACGAGGC	0.498000													79	134					1.15724e-44	1.50106e-44	1	1	0
DPP10	57628	broad.mit.edu	37	2	116497337	116497337	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:116497337C>G	ENST00000410059.1	+	9	1200	c.720C>G	c.(718-720)atC>atG	p.I240M	DPP10_ENST00000393147.2_Missense_Mutation_p.I244M|DPP10_ENST00000310323.8_Missense_Mutation_p.I233M|DPP10_ENST00000409163.1_Missense_Mutation_p.I190M|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	240					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.I233M(2)|p.I240M(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTCTCACATCGCCCACTGGT	0.463000													91	156					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244361	46244361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:46244361C>T	ENST00000334344.6	+	15	2627	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q429*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q670*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	819	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q819*(3)		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)		TTCACAGGGTCAACAGTTAAT	0.453000			"""N, S, F"""		hepatocellular carcinoma								56	58					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777759	43777759	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:43777759C>T	ENST00000389420.3	-	30	4473	c.4474G>A	c.(4474-4476)Gga>Aga	p.G1492R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1492	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.G1492R(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTGAACTCCAGAGCCACAG	0.438000													68	127					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641036	102641036	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:102641036G>A	ENST00000332549.3	+	7	1022	c.793G>A	c.(793-795)Ggc>Agc	p.G265S	IL1R2_ENST00000393414.2_Missense_Mutation_p.G265S|IL1R2_ENST00000441002.1_Missense_Mutation_p.G265S|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	265	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.G265S(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCTGGGAACCGGCACACCCTT	0.607000													45	98					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844435	61844435	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:61844435C>T	ENST00000280772.1	-	32	4190	c.3999G>A	c.(3997-3999)atG>atA	p.M1333I	ANK3_ENST00000373827.2_Missense_Mutation_p.M1327I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1334I|ANK3_ENST00000355288.2_Missense_Mutation_p.M467I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1333					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M1333I(1)|p.M968I(1)|p.M467I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCATCTGTCATGCAGAAAC	0.373000													17	328					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466398	114466398	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:114466398A>C	ENST00000513154.1	-	9	2013	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	TRIM36_ENST00000514154.1_Missense_Mutation_p.F420V|TRIM36_ENST00000282369.3_Missense_Mutation_p.F575V			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	575	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.F575V(2)		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)		AAGGCCCAGAAGTGTTTTCCT	0.448000													110	325					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539676	56539676	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:56539676G>A	ENST00000390649.3	+	7	2077	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	693						mitochondrion|nucleolus	ATP binding	p.E693K(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCTTTTCGAGACTCAAGA	0.517000													43	96					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509951	105509951	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr8:105509951C>G	ENST00000276654.5	-	5	937	c.829G>C	c.(829-831)Gac>Cac	p.D277H	LRP12_ENST00000424843.2_Missense_Mutation_p.D258H	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	277	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.D277H(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGATAAAAGTCTGGATAATTG	0.403000													18	54					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26491830	26491830	+	Silent	SNP	G	G	A	rs115609834	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:26491830G>A	ENST00000295589.3	-	1	254	c.60C>T	c.(58-60)ctC>ctT	p.L20L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	20					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.L20L(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTTCGAGCCCGAGTTCACAGG	0.488000													5	199					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600510	10600510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:10600510C>A	ENST00000171111.5	-	4	1892	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E449*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E449*(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AAGTGCCACTCATCCCGCTCT	0.537000													11	4					0.0167234	0.0168173	1	1	0
TTN	7273	broad.mit.edu	37	2	179412361	179412361	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:179412361C>T	ENST00000589042.1	-	339	94216	c.93992G>A	c.(93991-93993)gGa>gAa	p.G31331E	TTN_ENST00000342175.6_Missense_Mutation_p.G22458E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22266E|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29690E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22391E|TTN_ENST00000342992.6_Missense_Mutation_p.G28763E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29690	Fibronectin type-III 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G22458E(1)|p.G22266E(1)|p.G28763E(1)|p.G22391E(1)|p.G28761E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGGTTCTCCCCATGACAG	0.478000													9	318					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119024780	119024780	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:119024780C>A	ENST00000307417.3	+	3	647	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	ABCG4_ENST00000531739.1_Silent_p.R95R|ABCG4_ENST00000449422.2_Silent_p.R95R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	95	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.R95R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATTCTGCCGCCGGGAGCTGAT	0.532000													39	72					7.77372e-23	9.15458e-23	1	1	0
CASC5	57082	broad.mit.edu	37	15	40917231	40917231	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:40917231G>T	ENST00000346991.5	+	11	5237	c.4847G>T	c.(4846-4848)gGa>gTa	p.G1616V	CASC5_ENST00000399668.2_Missense_Mutation_p.G1590V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTGAATTAGGAAATAAGGCA	0.333000													12	38					7.93312e-07	8.40254e-07	1	1	0
SULT1C3	442038	broad.mit.edu	37	2	108881397	108881397	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:108881397G>T	ENST00000329106.2	+	6	738	c.738G>T	c.(736-738)atG>atT	p.M246I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	246						cytoplasm	alcohol sulfotransferase activity	p.M246I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACCCAATGACCAACTATA	0.383000													97	184					1.76152e-51	2.30155e-51	1	1	0
SDAD1	55153	broad.mit.edu	37	4	76898821	76898821	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:76898821C>A	ENST00000356260.5	-	4	501	c.383G>T	c.(382-384)tGc>tTc	p.C128F	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	128					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.C128F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTATCATGGCAACGAAAAAG	0.383000													38	173					2.52991e-16	2.92163e-16	1	1	0
SDHAP1	255812	broad.mit.edu	37	3	195706732	195706732	+	RNA	SNP	A	A	C	rs143142420	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:195706732A>C	ENST00000427841.1	-	0	904					NR_003264.2																						TAGTTGCGCCAGTAGCCTATG	0.607000													3	23					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141946049	141946049	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:141946049G>T	ENST00000389484.3	-	7	1925	c.954C>A	c.(952-954)gtC>gtA	p.V318V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	318					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V318V(2)		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)		CAATCAGGGTGACACATACAG	0.413000										TSP Lung(27;0.18)			39	103					1.76056e-25	2.11503e-25	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35274816	35274816	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:35274816C>T	ENST00000356321.4	-	3	1164	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E274K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCACCAATCTCACCATTTTCA	0.388000													6	18					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													10	356					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407873	179407873	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:179407873C>T	ENST00000589042.1	-	347	97051	c.96827G>A	c.(96826-96828)aGa>aAa	p.R32276K	TTN_ENST00000342175.6_Missense_Mutation_p.R23403K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23211K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30635K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23336K|TTN_ENST00000342992.6_Missense_Mutation_p.R29708K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30635	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R29708K(2)|p.R23336K(2)|p.R23211K(2)|p.R23403K(2)|p.R29706K(2)|p.R29706T(1)|p.R23403T(1)|p.R23211T(1)|p.R29708T(1)|p.R23336T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCCTTATTCTAAATAAGTA	0.418000													123	402					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109766	54109766	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:54109766C>T	ENST00000548263.1	-	9	1119	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	CALCOCO1_ENST00000430117.2_Silent_p.Q272Q|CALCOCO1_ENST00000262059.4_Silent_p.Q357Q|CALCOCO1_ENST00000550804.1_Silent_p.Q357Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	357					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.Q357Q(2)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGTGGCTTTCTGCTGGCTTG	0.612000													46	23					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107634	114107634	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:114107634G>A	ENST00000375418.3	-	1	205	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.S40F(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CAGGCCCCCGGAACGTTGCAG	0.597000													16	52					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328171	23328171	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:23328171G>A	ENST00000597761.2	+	4	524	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.E109K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATGTAGACATGAGAATTTACT	0.333000													16	20					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013156	73013156	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:73013156C>T	ENST00000308744.6	+	4	1294	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S297L|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S300L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	399					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.S399L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATGATGCTCTCAGACTACGCT	0.483000													82	170					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110503	20110503	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr8:20110503G>A	ENST00000381569.1	-	3	1296	c.939C>T	c.(937-939)ggC>ggT	p.G313G	LZTS1_ENST00000265801.6_Silent_p.G313G|LZTS1_ENST00000522290.1_Silent_p.G313G			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	313					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G313G(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTTGTTGCCGCCTTTGGGCT	0.682000													20	25					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42012056	42012056	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:42012056C>G	ENST00000395925.3	-	13	2067	c.1983G>C	c.(1981-1983)caG>caC	p.Q661H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	661					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	p.Q661H(2)		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						GCGACCTGGACTGTGAATGGC	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				18	40					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3041474	3041474	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:3041474C>A	ENST00000397114.3	-	11	1339	c.963G>T	c.(961-963)ccG>ccT	p.P321P	CARS_ENST00000401769.3_Silent_p.P344P|CARS_ENST00000380525.4_Silent_p.P414P|CARS_ENST00000278224.9_Silent_p.P331P|CARS_ENST00000397111.5_Silent_p.P331P			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	331					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	p.P331P(2)|p.P414P(2)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACGGCCAGGACGGTTCTCCGG	0.622000			T	ALK	ALCL								32	103					5.71845e-15	6.51976e-15	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51032016	51032016	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:51032016C>T	ENST00000261854.5	-	6	868	c.594G>A	c.(592-594)ttG>ttA	p.L198L		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	198						integral to membrane	aspartic-type endopeptidase activity	p.L198L(4)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCACTGCTTTCAAGTTTTCCC	0.323000													9	31					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													4	21					0	0	1	0	0
ECI1	1632	broad.mit.edu	37	16	2293439	2293439	+	Splice_Site	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:2293439C>T	ENST00000301729.4	-	5	490	c.441_splice	c.e5-1	p.G148_splice	ECI1_ENST00000570258.1_Splice_Site_p.G89_splice|ECI1_ENST00000562238.1_Splice_Site_p.G148_splice	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	148					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	p.G148E(2)		endometrium(1)|large_intestine(2)|lung(6)	9						GGGGCAGGCTCCCTGCAGGGA	0.652000													3	4					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779054	156779054	+	Missense_Mutation	SNP	C	C	T	rs147765972		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:156779054C>T	ENST00000392306.2	-	7	1112	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.A297T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.A315T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	315	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.A325T(2)|p.A315T(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAAGGGTGGCGGGTAGGCCC	0.597000													327	764					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343128	69343128	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:69343128C>T	ENST00000305363.4	+	8	813	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	250	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T250I(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368000													122	263					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													3	28					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:49724313G>T	ENST00000551245.1	+	13	1796	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I			Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592000													5	120					0.014758	0.0149247	1	1	0
KY	339855	broad.mit.edu	37	3	134322838	134322838	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:134322838C>T	ENST00000508956.1	-	10	1563	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.L523L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	523						cytoskeleton|Z disc	peptidase activity	p.L523L(4)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTGGACTTTCAGCTCGGTCT	0.527000													37	77					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													6	68					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492022	56492022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:56492022G>A	ENST00000370754.5	-	33	4602	c.4603C>T	c.(4603-4605)Cag>Tag	p.Q1535*	DST_ENST00000312431.6_Nonsense_Mutation_p.Q1357*|DST_ENST00000518935.1_Nonsense_Mutation_p.Q1031*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q1357*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1031*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q1031*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q1357*|DST_ENST00000370765.6_Nonsense_Mutation_p.Q1031*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q1357*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q1357*			Q03001	DYST_HUMAN	dystonin	1357					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q1031*(3)|p.Q1357*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGAGTACTGTTCTGCATAT	0.338000													41	375					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526072	176526072	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:176526072G>C	ENST00000367662.3	+	2	1778	c.614G>C	c.(613-615)cGg>cCg	p.R205P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	205					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R205P(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAGAGGCGGGCGGAAGAT	0.562000													301	214					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868090	57868090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:57868090G>T	ENST00000391705.3	+	4	1137	c.853G>T	c.(853-855)Gga>Tga	p.G285*	ZNF304_ENST00000282286.5_Nonsense_Mutation_p.G285*|ZNF304_ENST00000443917.2_Nonsense_Mutation_p.G332*|ZNF304_ENST00000598744.1_Nonsense_Mutation_p.G243*	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G285*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TAAGGAGTGTGGAAAAGCCTT	0.418000													51	96					6.30371e-39	7.94622e-39	1	1	0
SELP	6403	broad.mit.edu	37	1	169580746	169580746	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:169580746G>T	ENST00000263686.6	-	7	1168	c.1131C>A	c.(1129-1131)ccC>ccA	p.P377P	SELP_ENST00000367792.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367793.2_Silent_p.P315P|SELP_ENST00000367788.2_Silent_p.P315P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	377	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P377P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGGTTGGCAAGGGTGCAGACC	0.542000													62	172					5.62145e-24	6.66383e-24	1	1	0
MIPEP	4285	broad.mit.edu	37	13	24444289	24444289	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:24444289T>C	ENST00000382172.3	-	6	747	c.649A>G	c.(649-651)Agt>Ggt	p.S217G		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	217					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.S217G(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGAAATGTACTACTCAAATCC	0.363000													51	87					0	0	1	0	0
MRPL22	29093	broad.mit.edu	37	5	154320812	154320812	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:154320812A>G	ENST00000523037.1	+	2	105	c.64A>G	c.(64-66)Aag>Gag	p.K22E	MRPL22_ENST00000439747.3_Missense_Mutation_p.K48E|MRPL22_ENST00000265229.8_5'UTR|MRPL22_ENST00000522038.1_Missense_Mutation_p.K22E	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	22					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.K22E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCCGGGGGAAGCTGGCCTT	0.537000													13	37					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488043	24488043	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:24488043C>T	ENST00000264463.4	-	12	2603	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	699					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R699Q(1)		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)		AGGAGTCCTCCGAGGAATAAA	0.498000										HNSCC(23;0.051)			5	115					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590009	158590009	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:158590009G>T	ENST00000368148.3	-	44	6548	c.6368C>A	c.(6367-6369)aCa>aAa	p.T2123K	SPTA1_ENST00000368147.3_Missense_Mutation_p.T2120K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2123					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	p.T2123K(2)		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)					CACCTCCACTGTTAACCAGGT	0.498000													163	153					1.70003e-76	2.32294e-76	1	1	0
TFAP2A	7020	broad.mit.edu	37	6	10398887	10398887	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:10398887C>T	ENST00000379613.3	-	7	1339	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	TFAP2A_ENST00000319516.4_Silent_p.L355L|TFAP2A_ENST00000379608.3_Silent_p.L353L|TFAP2A_ENST00000379604.2_Silent_p.L359L|TFAP2A_ENST00000482890.1_Silent_p.L359L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	359	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.L353L(1)|p.L359L(1)|p.L355L(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTGAGTTCCCCAGGGGAGATC	0.607000													16	305					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430689	37430689	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:37430689G>T	ENST00000374660.1	+	7	795	c.696G>T	c.(694-696)gcG>gcT	p.A232A	ANKRD30A_ENST00000602533.1_Silent_p.A232A|ANKRD30A_ENST00000361713.1_Silent_p.A232A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232A(1)		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						CACCCTTGGCGGAAAGAACAC	0.483000													11	42					4.7546e-09	5.25354e-09	1	1	0
DEFB116	245930	broad.mit.edu	37	20	29891023	29891023	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:29891023G>T	ENST00000400549.1	-	2	300	c.301C>A	c.(301-303)Cac>Aac	p.H101N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	101					defense response to bacterium	extracellular region		p.H101N(2)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCAAATGTGAGAGTAGCTT	0.378000													269	510					6.20983e-135	8.61674e-135	1	1	0
CYP17A1	1586	broad.mit.edu	37	10	104594740	104594740	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:104594740C>A	ENST00000369887.3	-	3	639	c.468G>T	c.(466-468)atG>atT	p.M156I	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	156					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.M156I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GGGTGGCCAGCATATCACACA	0.502000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	108					9.65021e-13	1.07962e-12	1	1	0
DLD	1738	broad.mit.edu	37	7	107558381	107558381	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:107558381A>G	ENST00000205402.5	+	12	1530	c.1249A>G	c.(1249-1251)Aaa>Gaa	p.K417E	DLD_ENST00000537148.1_Missense_Mutation_p.K318E|DLD_ENST00000437604.2_Missense_Mutation_p.K369E|DLD_ENST00000440410.1_Missense_Mutation_p.K394E	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	417					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	p.K417E(4)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TATTGAGTACAAAGTTGGGAA	0.393000													91	152					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917230	40917230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:40917230G>T	ENST00000346991.5	+	11	5236	c.4846G>T	c.(4846-4848)Gga>Tga	p.G1616*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.G1590*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTTGAATTAGGAAATAAGGC	0.333000													12	38					7.93312e-07	8.40254e-07	1	1	0
FKBPL	63943	broad.mit.edu	37	6	32097522	32097522	+	Missense_Mutation	SNP	C	C	A	rs143627051		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32097522C>A	ENST00000375156.3	-	2	306	c.36G>T	c.(34-36)aaG>aaT	p.K12N		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	12					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.K12N(2)									GAGAGGTGTCCTTTTCTCCAA	0.493000													12	11					9.31168e-06	9.74731e-06	1	1	0
OR5B3	441608	broad.mit.edu	37	11	58170746	58170746	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:58170746A>T	ENST00000309403.2	-	1	136	c.137T>A	c.(136-138)tTg>tAg	p.L46*		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46*(2)|p.L46W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGAATATCAATACAATAAT	0.423000													81	159					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932641	83932641	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:83932641G>A	ENST00000345382.2	-	4	1447	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.P447P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	454					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P454P(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAGGGTAGCTGGGAGGAGGCC	0.547000													19	39					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152027454	152027454	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:152027454G>T	ENST00000370274.3	+	4	602	c.408G>T	c.(406-408)ggG>ggT	p.G136G	NSDHL_ENST00000440023.1_Silent_p.G136G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	136					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.G136G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGAGGCTGGGGTTCAGGTAA	0.517000													72	33					6.11987e-43	7.88099e-43	1	1	0
TBC1D1	23216	broad.mit.edu	37	4	38051323	38051323	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:38051323G>A	ENST00000261439.4	+	11	2069	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	TBC1D1_ENST00000508802.1_Missense_Mutation_p.D572N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	572						nucleus	Rab GTPase activator activity	p.D572N(3)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCTGTCCAGTGACTCGGAGAG	0.592000													40	77					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059823	248059823	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:248059823G>T	ENST00000537741.1	+	3	1192	c.935G>T	c.(934-936)gGa>gTa	p.G312V	OR2W3_ENST00000360358.3_Missense_Mutation_p.G312V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G312V(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGAGCTAGGAAAGGAGTAA	0.537000													29	19					4.11147e-13	4.65794e-13	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35274098	35274098	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:35274098C>T	ENST00000356321.4	-	3	1882	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R513K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGCTGACTGTCTAAAAGATTT	0.348000													4	35					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129181	26129181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:26129181C>A	ENST00000381655.2	+	13	1380	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.S373*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	373					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S413*(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCCAGGACATCAAACCTTAAT	0.428000													52	119					6.09941e-20	7.13591e-20	1	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435599	104435599	+	RNA	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:104435599G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							CCTGGTGCAGGGACGGCAGCG	0.458000													121	98					2.6061e-86	3.58841e-86	1	1	0
HLX	3142	broad.mit.edu	37	1	221055574	221055574	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:221055574G>T	ENST00000366903.6	+	3	2342	c.841G>T	c.(841-843)Gct>Tct	p.A281S	HLX_ENST00000549319.1_Missense_Mutation_p.A67S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	281					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A281S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ATGGTCGCGCGCTGTGTTCTC	0.577000													70	45					8.92729e-27	1.09451e-26	1	1	0
C1orf116	79098	broad.mit.edu	37	1	207200842	207200842	+	Silent	SNP	T	T	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:207200842T>A	ENST00000359470.5	-	2	351	c.102A>T	c.(100-102)ggA>ggT	p.G34G	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	34						cytoplasm|plasma membrane	receptor activity	p.G34G(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TACGTACAGATCCAGAGCGGG	0.637000													61	178					0	0	1	0	0
RAB31	11031	broad.mit.edu	37	18	9814045	9814045	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr18:9814045G>A	ENST00000578921.1	+	4	471	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R77Q(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						ATGTACTATCGAGGCTCAGCT	0.378000													29	39					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61460132	61460132	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:61460132A>T	ENST00000343916.3	+	18	920	c.917A>T	c.(916-918)gAc>gTc	p.D306V		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	306	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.D306V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGCAAGGACGGCCAGAAT	0.692000													18	43					0	0	0.575678	0	0
PSG3	5671	broad.mit.edu	37	19	43236960	43236960	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:43236960C>T	ENST00000327495.5	-	3	869	c.685G>A	c.(685-687)Gac>Aac	p.D229N	PSG3_ENST00000595140.1_Missense_Mutation_p.D229N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	229	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.D229N(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGACTGGGTCACTGCGGCTG	0.527000													102	433					0	0	0.870114	0	0
TMF1	7110	broad.mit.edu	37	3	69101202	69101202	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:69101202G>A	ENST00000543976.1	-	1	282	c.36C>T	c.(34-36)ttC>ttT	p.F12F	CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Silent_p.F12F	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	12					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.F12F(3)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCTGCTTAGCGAAGCTGGAGA	0.637000													17	196					0	0	0.608945	0	0
FMN2	56776	broad.mit.edu	37	1	240421306	240421306	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:240421306A>G	ENST00000319653.9	+	7	4357	c.4127A>G	c.(4126-4128)cAt>cGt	p.H1376R	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1376	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	p.H1519R(2)		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)			TCTAGCCTTCATTTAGATATG	0.323000													18	93					0	0	0.539581	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007729	110007729	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:110007729C>T	ENST00000453089.2	+	1	1151	c.270C>T	c.(268-270)tgC>tgT	p.C90C	ZC3H12C_ENST00000278590.3_Silent_p.C121C|ZC3H12C_ENST00000528673.1_Silent_p.C122C			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	121							endonuclease activity|nucleic acid binding|zinc ion binding	p.C121C(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GACAGCTCTGCAGGTCTCCCT	0.428000													10	27					0	0	0.361761	0	0
C4orf45	152940	broad.mit.edu	37	4	159894386	159894386	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:159894386C>G	ENST00000434826.2	-	2	226	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	48								p.E48Q(2)		large_intestine(2)|lung(3)	5						CCAGTTTTTTCTAACGCCAGA	0.378000													10	15					0	0	0.361761	0	0
ZNF12	7559	broad.mit.edu	37	7	6732203	6732203	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:6732203C>G	ENST00000405858.1	-	5	911	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	ZNF12_ENST00000404360.1_Intron|ZNF12_ENST00000342651.5_Intron|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E124Q(2)		NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTTCGTTTCTACATCAAAA	0.368000													82	188					0	0	0.870114	0	0
OR2T4	127074	broad.mit.edu	37	1	248525231	248525231	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:248525231C>A	ENST00000366475.1	+	1	349	c.349C>A	c.(349-351)Cag>Aag	p.Q117K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q117K(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GCTCCTGGACCAGGTCATGGG	0.493000													202	205					1.1622e-97	1.7073e-97	0.870114	1	0
XYLT1	64131	broad.mit.edu	37	16	17202725	17202725	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:17202725C>G	ENST00000261381.6	-	12	2791	c.2707G>C	c.(2707-2709)Gag>Cag	p.E903Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	903					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E903Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCCATCCCTCCAGCGCTGTG	0.667000													24	99					0	0	0.706142	0	0
SRD5A3	79644	broad.mit.edu	37	4	56236046	56236046	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:56236046G>A	ENST00000264228.4	+	5	973	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	249					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.E249K(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			AGACTGGTTTGAATATGTTTC	0.423000													23	107					0	0	0.706142	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152248	66152248	+	RNA	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:66152248C>A	ENST00000489520.2	-	0	695					NR_026825.2																						ACTTCCCAGGCCAGCATCTAC	0.483000													5	18					0.014758	0.0150296	0.184627	1	0
SNHG14	104472715	broad.mit.edu	37	15	25422019	25422019	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:25422019G>A	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							GAAGAGAGGTGATGACTTAAA	0.542000													70	260					0	0	0.870114	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524025	24524025	+	Missense_Mutation	SNP	G	G	A	rs139628724	byFrequency	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:24524025G>A	ENST00000376862.3	+	2	925	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	98					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.V98M(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TTCAGAGGGCGTGCTGCGCTC	0.652000													58	112					0	0	0.870114	0	0
FAM71B	153745	broad.mit.edu	37	5	156589711	156589711	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:156589711G>T	ENST00000302938.4	-	2	1660	c.1565C>A	c.(1564-1566)tCt>tAt	p.S522Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	522						nucleus		p.S522Y(2)		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)			TCCTGTGCTAGATGCAGATTG	0.502000													88	99					5.81834e-28	7.91676e-28	0.870114	1	0
CECR2	27443	broad.mit.edu	37	22	17983959	17983959	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:17983959C>T	ENST00000262608.8	+	6	658	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	CECR2_ENST00000342247.5_Missense_Mutation_p.R219C|CECR2_ENST00000400585.2_Missense_Mutation_p.R98C|CECR2_ENST00000400573.4_Missense_Mutation_p.R239C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	261					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.R239C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGAGAGTTTTCGCGAGAGGAC	0.562000													36	127					0	0	0.819951	0	0
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:5283318C>A	ENST00000546004.1	-	3	769	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	PROKR2_ENST00000217270.3_Missense_Mutation_p.A175S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A175S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493000										HNSCC(71;0.22)			47	152					4.86159e-25	6.50826e-25	0.870114	1	0
LRP1B	53353	broad.mit.edu	37	2	141055419	141055419	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:141055419A>T	ENST00000389484.3	-	84	13896	c.12925T>A	c.(12925-12927)Tgc>Agc	p.C4309S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4309	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C4309S(2)		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)		TGGCAGTGGCAGTAAGGCTGG	0.468000										TSP Lung(27;0.18)			83	237					0	0	0.870114	0	0
MMD	23531	broad.mit.edu	37	17	53485149	53485149	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:53485149C>G	ENST00000262065.3	-	4	598	c.302G>C	c.(301-303)aGa>aCa	p.R101T		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	101					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GATAACCATTCTATCACACAT	0.383000													5	69					0	0	0.248553	0	0
DYDC2	84332	broad.mit.edu	37	10	82126540	82126540	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:82126540C>G	ENST00000372199.1	+	6	965	c.367C>G	c.(367-369)Cca>Gca	p.P123A	DYDC2_ENST00000444807.2_Missense_Mutation_p.P123A|DYDC2_ENST00000256039.2_Missense_Mutation_p.P123A|DYDC2_ENST00000372198.1_Missense_Mutation_p.P137A|DYDC2_ENST00000372197.1_Missense_Mutation_p.P123A			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	123							protein binding	p.P123A(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GGAATTCCTGCCAGGTACTTC	0.468000													50	130					0	0	0.870114	0	0
NLRP14	338323	broad.mit.edu	37	11	7064233	7064233	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:7064233G>C	ENST00000299481.4	+	4	1322	c.976G>C	c.(976-978)Gag>Cag	p.E326Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	326	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E326Q(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCATTATGTAGAGCTACTAGG	0.403000													27	121					0	0	0.740014	0	0
SALL1	6299	broad.mit.edu	37	16	51173710	51173710	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:51173710G>T	ENST00000440970.1	-	2	2563	c.2132C>A	c.(2131-2133)tCt>tAt	p.S711Y	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S808Y|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	808					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S808Y(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCTGTGTCAGACTCCATGGA	0.507000													58	162					1.0442e-30	1.45661e-30	0.870114	1	0
COX4I1	1327	broad.mit.edu	37	16	85838571	85838571	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:85838571G>A	ENST00000564903.1	+	2	106	c.102G>A	c.(100-102)tcG>tcA	p.S34S	COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000568794.1_Silent_p.S34S|COX4I1_ENST00000253452.2_Silent_p.S34S|COX4I1_ENST00000562336.1_Silent_p.S34S|COX4I1_ENST00000561569.1_Silent_p.S34S			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	34					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	p.S34S(2)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				AAGACTTTTCGCTCCCAGCTT	0.473000													35	65					0	0	0.827153	0	0
MED1	5469	broad.mit.edu	37	17	37564758	37564758	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:37564758G>A	ENST00000300651.6	-	17	3939	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1239	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S1239L(2)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCAGAGCTTGAACTAGTTCC	0.502000										HNSCC(31;0.082)			37	79					0	0	0.788014	0	0
AMER3	205147	broad.mit.edu	37	2	131519842	131519842	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:131519842C>A	ENST00000423981.1	+	2	307	c.197C>A	c.(196-198)cCc>cAc	p.P66H	AMER3_ENST00000321420.4_Missense_Mutation_p.P66H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GACAGATGCCCCAACAAAGGG	0.632000													3	7					6.4e-05	6.8987e-05	0.115264	1	0
ISL1	3670	broad.mit.edu	37	5	50683505	50683505	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:50683505G>A	ENST00000230658.7	+	3	985	c.400G>A	c.(400-402)Gat>Aat	p.D134N	ISL1_ENST00000511384.1_Missense_Mutation_p.D134N|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	134					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D134N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGCAGACCACGATGTGGTGGA	0.652000													22	115					0	0	0.639603	0	0
PTGS2	5743	broad.mit.edu	37	1	186643668	186643668	+	Silent	SNP	G	G	A	rs139087930		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:186643668G>A	ENST00000367468.5	-	10	1768	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	544					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.I544I(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGTGTTGATGATTTGAAAAC	0.433000													46	152					0	0	0.859065	0	0
DCT	1638	broad.mit.edu	37	13	95114416	95114416	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:95114416G>T	ENST00000377028.5	-	5	1304	c.891C>A	c.(889-891)acC>acA	p.T297T	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Silent_p.T297T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	297					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.T297T(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CATTGCACAAGGTGACCAGGT	0.413000													13	63					4.36969e-10	4.96828e-10	0.435327	1	0
NEU2	4759	broad.mit.edu	37	2	233897387	233897387	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:233897387G>A	ENST00000233840.3	+	1	6	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	2							exo-alpha-sialidase activity	p.A2A(2)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCCCCATGGCGTCCCTTCCTG	0.617000													65	151					0	0	0.870114	0	0
SLFN12	55106	broad.mit.edu	37	17	33749265	33749265	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:33749265T>A	ENST00000394562.1	-	4	1306	c.783A>T	c.(781-783)gaA>gaT	p.E261D	SLFN12_ENST00000304905.5_Missense_Mutation_p.E261D|SLFN12_ENST00000452764.3_Missense_Mutation_p.E261D			Q8IYM2	SLN12_HUMAN	schlafen family member 12	261							ATP binding	p.E261D(2)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGATTTCTCTTTCTAAGTCAT	0.338000													29	73					0	0	0.769981	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741992	140741992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:140741992G>T	ENST00000522605.1	+	1	2290	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.E764*(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAGACAGAGTTCAATTT	0.498000													127	186					1.61085e-67	2.34562e-67	0.870114	1	0
DNMT3A	1788	broad.mit.edu	37	2	25459873	25459873	+	Splice_Site	SNP	G	G	A	rs35824014		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:25459873G>A	ENST00000264709.3	-	21	2747	c.2408_splice	c.e21-1	p.P804_splice	DNMT3A_ENST00000402667.1_Splice_Site_p.P581_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.P615_splice|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000321117.5_Splice_Site_p.P804_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	804					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCAACGGCCTAGGAGGC	0.582000			"""Mis, F, N, S"""		AML								13	29					0	0	0.435327	0	0
CACNA1E	777	broad.mit.edu	37	1	181708376	181708376	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:181708376G>T	ENST00000526775.1	+	24	3814	c.3649G>T	c.(3649-3651)Gcc>Tcc	p.A1217S	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1236S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1168S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1217S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1187S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A843S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1236S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1236					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1236S(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCATTGGTGGCCTTTGCTCT	0.498000													147	182					8.66588e-61	1.2509e-60	0.870114	1	0
SLC32A1	140679	broad.mit.edu	37	20	37356981	37356981	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:37356981G>T	ENST00000217420.1	+	2	1540	c.1277G>T	c.(1276-1278)gGg>gTg	p.G426V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	426					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.G426V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGCGGCGACGGGCGCCTGAAG	0.642000													15	40					2.39187e-15	2.89818e-15	0.575678	1	0
FARSB	10056	broad.mit.edu	37	2	223489197	223489197	+	Splice_Site	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:223489197C>G	ENST00000281828.6	-	12	1227	c.962_splice	c.e12-1	p.E322_splice	FARSB_ENST00000536361.1_Splice_Site_p.E223_splice	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	322	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.E322Q(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TCTGGAGTTTCTCTGAAAAAG	0.343000													12	23					0	0	0.387290	0	0
JRKL	8690	broad.mit.edu	37	11	96124962	96124962	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:96124962A>C	ENST00000458427.1	+	1	1805	c.1149A>C	c.(1147-1149)agA>agC	p.R383S	JRKL_ENST00000546177.1_Intron|JRKL_ENST00000332349.4_Missense_Mutation_p.R383S	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	383	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R383S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CCATTAGCAGAGCATGGAAGA	0.408000													7	167					0	0	0.278610	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_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	25					1.12685e-05	1.24705e-05	0.307466	1	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	102					0	0	0.150653	0	0
AKAP11	11215	broad.mit.edu	37	13	42876365	42876365	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:42876365G>T	ENST00000025301.2	+	8	3658	c.3483G>T	c.(3481-3483)gaG>gaT	p.E1161D		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1161					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.E1161D(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAAAAGAAGAGTTCATGTTGA	0.428000													33	77					7.63505e-26	1.03042e-25	0.760397	1	0
DYNLT1	6993	broad.mit.edu	37	6	159065728	159065728	+	Missense_Mutation	SNP	G	G	C	rs151068285		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:159065728G>C	ENST00000367085.3	-	1	42	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	DYNLT1_ENST00000367089.3_Missense_Mutation_p.Q5E			P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	5					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity	p.Q5E(2)		lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		TCCGCAGCCTGGTAGTCTTCC	0.726000													8	25					0	0	0.361761	0	0
PTCH1	5727	broad.mit.edu	37	9	98218671	98218671	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:98218671C>A	ENST00000430669.2	-	19	3580	c.2995G>T	c.(2995-2997)Gtc>Ttc	p.V999F	PTCH1_ENST00000437951.1_Missense_Mutation_p.V999F|PTCH1_ENST00000331920.6_Missense_Mutation_p.V1065F|PTCH1_ENST00000429896.2_Missense_Mutation_p.V914F|PTCH1_ENST00000418258.1_Missense_Mutation_p.V914F|PTCH1_ENST00000421141.1_Missense_Mutation_p.V914F|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1064F			Q13635	PTC1_HUMAN	patched 1	1065					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1065F(4)|p.V1064F(4)|p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACAGCTCGACCGTCATCAGC	0.627000													15	34					2.31682e-05	2.53021e-05	0.479597	1	0
ZNF770	54989	broad.mit.edu	37	15	35274816	35274816	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:35274816C>T	ENST00000356321.4	-	3	1164	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E274K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCACCAATCTCACCATTTTCA	0.388000													10	49					0	0	0.335167	0	0
ANO7	50636	broad.mit.edu	37	2	242141661	242141661	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:242141661T>C	ENST00000274979.8	+	8	930	c.827T>C	c.(826-828)cTt>cCt	p.L276P	ANO7_ENST00000402430.3_Missense_Mutation_p.L275P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	276						cell junction|chloride channel complex|cytosol	chloride channel activity	p.L276P(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAAAACCTGCTTGGGATCCAC	0.612000													34	85					0	0	0.819951	0	0
HEYL	26508	broad.mit.edu	37	1	40092420	40092420	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:40092420C>T	ENST00000372852.3	-	5	1065	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HEYL_ENST00000535435.1_Missense_Mutation_p.R221H	NM_014571.3	NP_055386.1	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	249	Pro-rich.				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTCTAGGGGGCGGGCCCTCCG	0.692000													4	3					0	0	0.184627	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425483	39425483	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:39425483C>A	ENST00000216099.7	+	5	1128	c.721C>A	c.(721-723)Cac>Aac	p.H241N	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.H241N	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	241					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TACAAAGCACCACTCAGCTGT	0.478000													4	82					0.00909568	0.00932026	0.150653	1	0
PLIN4	729359	broad.mit.edu	37	19	4512261	4512261	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:4512261C>G	ENST00000301286.3	-	3	1668	c.1669G>C	c.(1669-1671)Ggg>Cgg	p.G557R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	557	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G557R(2)|p.G485R(2)		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						CCCGTGAGCCCAGTGGACATC	0.612000													89	193					0	0	0.870114	0	0
C17orf70	80233	broad.mit.edu	37	17	79517503	79517503	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:79517503C>T	ENST00000537152.1	-	3	1089	c.564G>A	c.(562-564)cgG>cgA	p.R188R	C17orf70_ENST00000327787.8_Silent_p.R339R	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	339					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.R339R(1)|p.R188R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCAGTACTCCCGCAGCTCGG	0.657000													32	73					0	0	0.812448	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209953826	209953826	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:209953826C>T	ENST00000367024.1	+	15	1840	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P422S|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P442S|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P422S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	442						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCAGGCTTTGCCCGTGTGGAG	0.537000													5	322					0	0	0.248553	0	0
ACPP	55	broad.mit.edu	37	3	132075715	132075715	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:132075715C>T	ENST00000336375.5	+	10	1244	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	ACPP_ENST00000351273.7_Intron|ACPP_ENST00000475741.1_Missense_Mutation_p.T352I	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	385						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.T385I(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAAGACAGTACAGATTAGTGT	0.502000													30	66					0	0	0.740014	0	0
PCDH15	65217	broad.mit.edu	37	10	55996691	55996691	+	Splice_Site	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:55996691C>A	ENST00000373965.2	-	9	1271	c.876_splice	c.e9-1	p.E293_splice	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Splice_Site_p.E293_splice|PCDH15_ENST00000361849.3_Splice_Site_p.E293_splice|PCDH15_ENST00000395442.1_Splice_Site_p.E293_splice|PCDH15_ENST00000437009.1_Splice_Site_p.E293_splice|PCDH15_ENST00000373955.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395445.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395432.2_Splice_Site_p.E256_splice|PCDH15_ENST00000395446.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395433.1_Splice_Site_p.E271_splice|PCDH15_ENST00000414778.1_Splice_Site_p.E298_splice|PCDH15_ENST00000395430.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395440.1_Splice_Site_p.E293_splice|PCDH15_ENST00000373957.3_Splice_Site_p.E271_splice|PCDH15_ENST00000395438.1_Splice_Site_p.E293_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	293	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E293*(4)|p.E298*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCAGTTCTTCCTGAAAAAAA	0.398000										HNSCC(58;0.16)			37	90					4.65686e-17	5.81233e-17	0.788014	1	0
C8A	731	broad.mit.edu	37	1	57349288	57349288	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:57349288G>T	ENST00000361249.3	+	6	885	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	263	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.V263V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTATTGGTGGGTGTAGGTG	0.403000													19	54					2.89027e-11	3.33184e-11	0.624587	1	0
REG1B	5968	broad.mit.edu	37	2	79314691	79314691	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:79314691G>C	ENST00000305089.3	-	2	128	c.48C>G	c.(46-48)ttC>ttG	p.F16L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	16					cell proliferation	extracellular region	sugar binding	p.F16L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGAGACAGGAACATCAGGG	0.473000													13	44					0	0	0.435327	0	0
LRRN2	10446	broad.mit.edu	37	1	204589053	204589053	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:204589053A>G	ENST00000367175.1	-	1	2280	c.68T>C	c.(67-69)gTa>gCa	p.V23A	LRRN2_ENST00000367177.3_Missense_Mutation_p.V23A|LRRN2_ENST00000367176.3_Missense_Mutation_p.V23A|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	23	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.V23A(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGCCAGGGTACCACGGGCAC	0.647000													15	25					0	0	0.479597	0	0
PCDH9	5101	broad.mit.edu	37	13	67799512	67799512	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:67799512T>C	ENST00000377861.3	-	2	3747	c.3061A>G	c.(3061-3063)Ata>Gta	p.I1021V	PCDH9_ENST00000377865.2_Intron|PCDH9_ENST00000544246.1_Intron|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAGTACTTATAGACCAGTAA	0.423000													38	68					0	0	0.847076	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764617	109764617	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:109764617G>A	ENST00000602699.1	+	0	1078					NR_002718.2																						CTGAATGGGGGAACCTGCATG	0.577000													11	80					0	0	0.361761	0	0
OR52I1	390037	broad.mit.edu	37	11	4615507	4615507	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:4615507C>T	ENST00000450052.2	+	2	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F	OR52I1_ENST00000530443.2_Missense_Mutation_p.S80F			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S105F(2)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCTCCTCCGTGGTACCC	0.502000													58	144					0	0	0.870114	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													4	54					0	0	0.184627	0	0
SCIN	85477	broad.mit.edu	37	7	12668762	12668762	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:12668762G>A	ENST00000297029.5	+	9	1335	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	SCIN_ENST00000445618.2_Missense_Mutation_p.D165N|SCIN_ENST00000519209.1_Missense_Mutation_p.D165N	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	412	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.D412N(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GATCCAAGTTGACCAAAACTC	0.368000													16	59					0	0	0.500413	0	0
VPS53	55275	broad.mit.edu	37	17	534814	534814	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:534814T>A	ENST00000437048.2	-	8	809	c.663A>T	c.(661-663)gaA>gaT	p.E221D	VPS53_ENST00000574029.1_Intron|VPS53_ENST00000446250.2_Missense_Mutation_p.E23D|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E192D|VPS53_ENST00000571805.1_Missense_Mutation_p.E221D|VPS53_ENST00000576149.1_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	221					protein transport	endosome membrane|Golgi apparatus		p.E192D(2)|p.E221D(2)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AAGGAAACGCTTCTTCAAAAT	0.498000													30	74					0	0	0.769981	0	0
FAM188A	80013	broad.mit.edu	37	10	15902236	15902236	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:15902236G>A	ENST00000277632.3	-	1	283	c.63C>T	c.(61-63)ctC>ctT	p.L21L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	21					apoptosis	nucleus	calcium ion binding	p.L21L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGGTGTCCGAGAGACCGGGGC	0.617000													4	22					0	0	0.150653	0	0
BMP8A	353500	broad.mit.edu	37	1	39957981	39957981	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:39957981G>C	ENST00000331593.5	+	1	664	c.318G>C	c.(316-318)atG>atC	p.M106I		NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	106					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCTGGTCATGAGCTTCGTCA	0.741000													6	15					0	0	0.248553	0	0
CHKB-CPT1B	386593	broad.mit.edu	37	22	51018161	51018161	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:51018161G>A	ENST00000453634.1	-	1	20	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CHKB-CPT1B_ENST00000452668.1_Intron|CHKB_ENST00000406938.2_Silent_p.V342V														p.V342V(2)									CTCACCGACTGACTTCTACCA	0.522000													42	113					0	0	0.840704	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	56					0	0	0.184627	0	0
MYO16	23026	broad.mit.edu	37	13	109777480	109777480	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:109777480C>A	ENST00000356711.2	+	30	3616	c.3490C>A	c.(3490-3492)Cgc>Agc	p.R1164S	MYO16_ENST00000357550.2_Missense_Mutation_p.R1164S|MYO16_ENST00000457511.2_Missense_Mutation_p.R676S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1164	IQ.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.R1164S(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTTTAGCACGCCAGCACCT	0.393000													10	38					3.86212e-05	4.19027e-05	0.361761	1	0
LZTS1	11178	broad.mit.edu	37	8	20110503	20110503	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr8:20110503G>A	ENST00000381569.1	-	3	1296	c.939C>T	c.(937-939)ggC>ggT	p.G313G	LZTS1_ENST00000265801.6_Silent_p.G313G|LZTS1_ENST00000522290.1_Silent_p.G313G			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	313					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G313G(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTTGTTGCCGCCTTTGGGCT	0.682000													36	84					0	0	0.796494	0	0
TMEM99	147184	broad.mit.edu	37	17	38991095	38991095	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:38991095C>T	ENST00000301665.3	+	3	631	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	109						integral to membrane		p.F109F(2)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTTGCTCTTCAACAACTGGA	0.493000													54	106					0	0	0.870114	0	0
TAOK2	9344	broad.mit.edu	37	16	29997963	29997963	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:29997963C>T	ENST00000308893.4	+	16	3413	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G	TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000416441.2_Silent_p.G617G|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	790					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.G790G(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAATGCTTGGCGAGGAGGAGG	0.597000													55	146					0	0	0.870114	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													3	37					0	0	0.115264	0	0
OR52N4	390072	broad.mit.edu	37	11	5776193	5776193	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:5776193A>T	ENST00000317254.3	+	1	271	c.223A>T	c.(223-225)Atg>Ttg	p.M75L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M75L(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGACCTTGTTATGTGCTCTAG	0.458000													34	60					0	0	0.779181	0	0
SPG11	80208	broad.mit.edu	37	15	44865727	44865727	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:44865727C>A	ENST00000558319.1	-	32	6253	c.6223G>T	c.(6223-6225)Gat>Tat	p.D2075Y	SPG11_ENST00000261866.7_Intron|SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Intron			Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	0					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGTTGGGAATCCCCGGGGGGT	0.502000													16	50					3.41278e-10	3.90705e-10	0.520397	1	0
TXNDC15	79770	broad.mit.edu	37	5	134235280	134235280	+	Missense_Mutation	SNP	T	T	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:134235280T>G	ENST00000358387.4	+	5	1613	c.988T>G	c.(988-990)Tta>Gta	p.L330V	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L307V	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	330					cell redox homeostasis	integral to membrane		p.L330V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTATTTTCCTTATTCTTTTT	0.403000													81	107					0	0	0.870114	0	0
GREB1	9687	broad.mit.edu	37	2	11720872	11720872	+	Missense_Mutation	SNP	C	C	T	rs148901217		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:11720872C>T	ENST00000381486.2	+	7	1115	c.815C>T	c.(814-816)cCg>cTg	p.P272L	GREB1_ENST00000234142.5_Missense_Mutation_p.P272L|GREB1_ENST00000389825.3_Missense_Mutation_p.P162L|GREB1_ENST00000263834.5_Missense_Mutation_p.P272L|GREB1_ENST00000381483.2_Missense_Mutation_p.P272L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	272						integral to membrane		p.P272L(6)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAATGGGTCCGGCTGTTTTC	0.532000													52	104					0	0	0.870114	0	0
KIF26A	26153	broad.mit.edu	37	14	104642378	104642378	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:104642378G>T	ENST00000315264.7	+	11	3214	c.2836G>T	c.(2836-2838)Gcc>Tcc	p.A946S	KIF26A_ENST00000423312.2_Missense_Mutation_p.A1085S			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1085					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	p.A1085S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGAGTTTGACGCCTACACCTC	0.672000													5	11					0.000602214	0.000620917	0.184627	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161166644	161166644	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:161166644C>T	ENST00000367996.4	-	2	1088	c.660G>A	c.(658-660)gtG>gtA	p.V220V	ADAMTS4_ENST00000367995.3_Silent_p.V220V	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	220	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.V220V(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCAGTGTCTCCACAAATCTAC	0.537000													220	280					0	0	0.870114	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178691	57178691	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:57178691C>G	ENST00000554643.1	+	5	976	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HSD17B6_ENST00000322165.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555805.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000554150.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555159.1_Missense_Mutation_p.F209L			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	209					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	p.F209L(3)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	CTGGCTACTTCAGAACGGGAA	0.423000													67	139					0	0	0.870114	0	0
OR10G9	219870	broad.mit.edu	37	11	123894107	123894107	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:123894107A>T	ENST00000375024.1	+	1	388	c.388A>T	c.(388-390)Agg>Tgg	p.R130W		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		TTACCCGCTCAGGTACACCAG	0.537000													71	122					0	0	0.870114	0	0
USH2A	7399	broad.mit.edu	37	1	215807951	215807951	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:215807951C>T	ENST00000366943.2	-	70	15533	c.15147G>A	c.(15145-15147)atG>atA	p.M5049I	USH2A_ENST00000307340.3_Missense_Mutation_p.M5049I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5049					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.M5049I(2)		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)		TCAAGCCCAGCATCGCCATTA	0.463000										HNSCC(13;0.011)			42	173					0	0	0.827153	0	0
RBAK	57786	broad.mit.edu	37	7	5105125	5105125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:5105125G>T	ENST00000396912.1	+	5	2557	c.2038G>T	c.(2038-2040)Gaa>Taa	p.E680*	RBAK_ENST00000353796.3_Nonsense_Mutation_p.E680*|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	680	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E680*(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAACCCTATGAATGTAACGA	0.388000													45	96					6.4771e-29	8.88594e-29	0.853193	1	0
CNTLN	54875	broad.mit.edu	37	9	17466001	17466001	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:17466001G>T	ENST00000380647.3	+	22	3638	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	CNTLN_ENST00000262360.5_Missense_Mutation_p.C1185F|CNTLN_ENST00000425824.1_Missense_Mutation_p.C1185F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1185						centriole|membrane	two-component sensor activity	p.C1185F(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ACTGAAGAATGTTCCAACAAG	0.308000													7	18					5.18039e-06	5.77144e-06	0.278610	1	0
XYLB	9942	broad.mit.edu	37	3	38454427	38454427	+	Splice_Site	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:38454427G>T	ENST00000207870.3	+	19	1624	c.1533_splice	c.e19-1	p.V512_splice	XYLB_ENST00000542835.1_Splice_Site_p.V375_splice|XYLB_ENST00000472721.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	512					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	p.V512F(2)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCCCTTCTAGGTCTACGAGGC	0.498000													42	107					7.53189e-24	1.00024e-23	0.834066	1	0
EEF1A2	1917	broad.mit.edu	37	20	62121879	62121879	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:62121879C>T	ENST00000217182.3	-	6	1147	c.982G>A	c.(982-984)Gac>Aac	p.D328N	EEF1A2_ENST00000298049.7_Missense_Mutation_p.D328N	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	328						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.D328N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GACTTGCTGTCCCCACACACG	0.667000													25	55					0	0	0.706142	0	0
DPP10	57628	broad.mit.edu	37	2	116497337	116497337	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:116497337C>G	ENST00000410059.1	+	9	1200	c.720C>G	c.(718-720)atC>atG	p.I240M	DPP10_ENST00000409163.1_Missense_Mutation_p.I190M|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.I233M|DPP10_ENST00000393147.2_Missense_Mutation_p.I244M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	240					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.I233M(2)|p.I240M(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTCTCACATCGCCCACTGGT	0.463000													38	86					0	0	0.804634	0	0
ARID2	196528	broad.mit.edu	37	12	46244361	46244361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:46244361C>T	ENST00000334344.6	+	15	2627	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q429*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q670*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	819	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q819*(3)		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)		TTCACAGGGTCAACAGTTAAT	0.453000			"""N, S, F"""		hepatocellular carcinoma								18	28					0	0	0.539581	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777759	43777759	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:43777759C>T	ENST00000389420.3	-	30	4473	c.4474G>A	c.(4474-4476)Gga>Aga	p.G1492R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1492	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.G1492R(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTGAACTCCAGAGCCACAG	0.438000													16	41					0	0	0.539581	0	0
PYGO2	90780	broad.mit.edu	37	1	154931673	154931673	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:154931673G>A	ENST00000368457.2	-	3	974	c.803C>T	c.(802-804)tCt>tTt	p.S268F	PYGO2_ENST00000368456.1_Missense_Mutation_p.S231F	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	268	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAAAGCAGTAGAAGCAGGTGG	0.647000													6	27					0	0	0.248553	0	0
IL1R2	7850	broad.mit.edu	37	2	102641036	102641036	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:102641036G>A	ENST00000332549.3	+	7	1022	c.793G>A	c.(793-795)Ggc>Agc	p.G265S	IL1R2_ENST00000441002.1_Missense_Mutation_p.G265S|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.G265S	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	265	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.G265S(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCTGGGAACCGGCACACCCTT	0.607000													27	58					0	0	0.693898	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051323	38051323	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:38051323G>A	ENST00000261439.4	+	11	2069	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	TBC1D1_ENST00000508802.1_Missense_Mutation_p.D572N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	572						nucleus	Rab GTPase activator activity	p.D572N(3)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCTGTCCAGTGACTCGGAGAG	0.592000													50	158					0	0	0.870114	0	0
TRIM36	55521	broad.mit.edu	37	5	114466398	114466398	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:114466398A>C	ENST00000513154.1	-	9	2013	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	TRIM36_ENST00000514154.1_Missense_Mutation_p.F420V|TRIM36_ENST00000282369.3_Missense_Mutation_p.F575V			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	575	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.F575V(2)		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)		AAGGCCCAGAAGTGTTTTCCT	0.448000													36	139					0	0	0.796494	0	0
NLRP5	126206	broad.mit.edu	37	19	56539676	56539676	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:56539676G>A	ENST00000390649.3	+	7	2077	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	693						mitochondrion|nucleolus	ATP binding	p.E693K(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCTTTTCGAGACTCAAGA	0.517000													82	160					0	0	0.870114	0	0
LRP12	29967	broad.mit.edu	37	8	105509951	105509951	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr8:105509951C>G	ENST00000276654.5	-	5	937	c.829G>C	c.(829-831)Gac>Cac	p.D277H	LRP12_ENST00000424843.2_Missense_Mutation_p.D258H	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	277	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.D277H(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGATAAAAGTCTGGATAATTG	0.403000													10	60					0	0	0.411799	0	0
ECI1	1632	broad.mit.edu	37	16	2293439	2293439	+	Splice_Site	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:2293439C>T	ENST00000301729.4	-	5	490	c.441_splice	c.e5-1	p.G148_splice	ECI1_ENST00000562238.1_Splice_Site_p.G148_splice|ECI1_ENST00000570258.1_Splice_Site_p.G89_splice	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	148					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	p.G148E(2)		endometrium(1)|large_intestine(2)|lung(6)	9						GGGGCAGGCTCCCTGCAGGGA	0.652000													26	100					0	0	0.729181	0	0
KEAP1	9817	broad.mit.edu	37	19	10600510	10600510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:10600510C>A	ENST00000171111.5	-	4	1892	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E449*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E449*(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AAGTGCCACTCATCCCGCTCT	0.537000													18	14					9.7654e-05	0.000103252	0.557998	1	0
CARS	833	broad.mit.edu	37	11	3041474	3041474	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:3041474C>A	ENST00000397114.3	-	11	1339	c.963G>T	c.(961-963)ccG>ccT	p.P321P	CARS_ENST00000278224.9_Silent_p.P331P|CARS_ENST00000380525.4_Silent_p.P414P|CARS_ENST00000401769.3_Silent_p.P344P|CARS_ENST00000397111.5_Silent_p.P331P			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	331					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	p.P331P(2)|p.P414P(2)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACGGCCAGGACGGTTCTCCGG	0.622000			T	ALK	ALCL								47	178					2.47907e-22	3.24035e-22	0.870114	1	0
CASC5	57082	broad.mit.edu	37	15	40917231	40917231	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:40917231G>T	ENST00000346991.5	+	11	5237	c.4847G>T	c.(4846-4848)gGa>gTa	p.G1616V	CASC5_ENST00000399668.2_Missense_Mutation_p.G1590V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTGAATTAGGAAATAAGGCA	0.333000													15	62					0.000422831	0.000438688	0.500413	1	0
SULT1C3	442038	broad.mit.edu	37	2	108881397	108881397	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:108881397G>T	ENST00000329106.2	+	6	738	c.738G>T	c.(736-738)atG>atT	p.M246I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	246						cytoplasm	alcohol sulfotransferase activity	p.M246I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACCCAATGACCAACTATA	0.383000													41	85					1.03325e-14	1.23395e-14	0.859065	1	0
SDAD1	55153	broad.mit.edu	37	4	76898821	76898821	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:76898821C>A	ENST00000356260.5	-	4	501	c.383G>T	c.(382-384)tGc>tTc	p.C128F	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	128					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.C128F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTATCATGGCAACGAAAAAG	0.383000													16	73					6.94344e-10	7.8409e-10	0.539581	1	0
ABCG4	64137	broad.mit.edu	37	11	119024780	119024780	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:119024780C>A	ENST00000307417.3	+	3	647	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	ABCG4_ENST00000449422.2_Silent_p.R95R|ABCG4_ENST00000531739.1_Silent_p.R95R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	95	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.R95R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATTCTGCCGCCGGGAGCTGAT	0.532000													41	109					1.96642e-18	2.51096e-18	0.827153	1	0
BNC1	646	broad.mit.edu	37	15	83932641	83932641	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:83932641G>A	ENST00000345382.2	-	4	1447	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.P447P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	454					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P454P(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAGGGTAGCTGGGAGGAGGCC	0.547000													40	100					0	0	0.804634	0	0
LRP1B	53353	broad.mit.edu	37	2	141946049	141946049	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:141946049G>T	ENST00000389484.3	-	7	1925	c.954C>A	c.(952-954)gtC>gtA	p.V318V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	318					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V318V(2)		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)		CAATCAGGGTGACACATACAG	0.413000										TSP Lung(27;0.18)			22	40					1.28384e-07	1.43998e-07	0.608945	1	0
TTN	7273	broad.mit.edu	37	2	179407873	179407873	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:179407873C>T	ENST00000589042.1	-	347	97051	c.96827G>A	c.(96826-96828)aGa>aAa	p.R32276K	TTN_ENST00000342175.6_Missense_Mutation_p.R23403K|TTN_ENST00000591111.1_Missense_Mutation_p.R30635K|TTN_ENST00000460472.2_Missense_Mutation_p.R23211K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29708K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23336K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30635	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R29708K(2)|p.R23336K(2)|p.R23211K(2)|p.R23403K(2)|p.R29706K(2)|p.R29706T(1)|p.R23403T(1)|p.R23211T(1)|p.R29708T(1)|p.R23336T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCCTTATTCTAAATAAGTA	0.418000													55	218					0	0	0.870114	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109766	54109766	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:54109766C>T	ENST00000548263.1	-	9	1119	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	CALCOCO1_ENST00000262059.4_Silent_p.Q357Q|CALCOCO1_ENST00000550804.1_Silent_p.Q357Q|CALCOCO1_ENST00000430117.2_Silent_p.Q272Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	357					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.Q357Q(2)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGTGGCTTTCTGCTGGCTTG	0.612000													29	28					0	0	0.779181	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107634	114107634	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:114107634G>A	ENST00000375418.3	-	1	205	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.S40F(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CAGGCCCCCGGAACGTTGCAG	0.597000													23	106					0	0	0.654019	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013156	73013156	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:73013156C>T	ENST00000308744.6	+	4	1294	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	NPFFR2_ENST00000395999.1_Missense_Mutation_p.S300L|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S297L|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	399					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.S399L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATGATGCTCTCAGACTACGCT	0.483000													23	69					0	0	0.624587	0	0
OR1M1	125963	broad.mit.edu	37	19	9203982	9203982	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:9203982C>A	ENST00000429566.3	+	1	128	c.62C>A	c.(61-63)cCa>cAa	p.P21Q		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21Q(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCAGAAAAGCCAGAGCAGGAG	0.507000													54	23					2.12129e-23	2.79471e-23	0.870114	1	0
GLI3	2737	broad.mit.edu	37	7	42012056	42012056	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:42012056C>G	ENST00000395925.3	-	13	2067	c.1983G>C	c.(1981-1983)caG>caC	p.Q661H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	661					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	p.Q661H(2)		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						GCGACCTGGACTGTGAATGGC	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				48	134					0	0	0.870114	0	0
TGFBR3	7049	broad.mit.edu	37	1	92187533	92187533	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:92187533G>A	ENST00000212355.4	-	8	1519	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	TGFBR3_ENST00000525962.1_Missense_Mutation_p.H352Y|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H352Y	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	352					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGCCGAAGATGAAATCTATTA	0.388000													4	39					0	0	0.184627	0	0
SPPL2A	84888	broad.mit.edu	37	15	51032016	51032016	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:51032016C>T	ENST00000261854.5	-	6	868	c.594G>A	c.(592-594)ttG>ttA	p.L198L		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	198						integral to membrane	aspartic-type endopeptidase activity	p.L198L(4)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCACTGCTTTCAAGTTTTCCC	0.323000													9	29					0	0	0.335167	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779054	156779054	+	Missense_Mutation	SNP	C	C	T	rs147765972		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:156779054C>T	ENST00000392306.2	-	7	1112	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.A297T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.A315T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	315	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.A325T(2)|p.A315T(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAAGGGTGGCGGGTAGGCCC	0.597000													119	419					0	0	0.870114	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343128	69343128	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:69343128C>T	ENST00000305363.4	+	8	813	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	250	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T250I(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368000													91	170					0	0	0.870114	0	0
KY	339855	broad.mit.edu	37	3	134322838	134322838	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:134322838C>T	ENST00000508956.1	-	10	1563	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.L523L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	523						cytoskeleton|Z disc	peptidase activity	p.L523L(4)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTGGACTTTCAGCTCGGTCT	0.527000													19	67					0	0	0.624587	0	0
STK11	6794	broad.mit.edu	37	19	1220717	1220717	+	Splice_Site	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:1220717G>T	ENST00000326873.7	+	5	1907		c.e5+1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(6)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCACCCTGTAAGTGCCCC	0.711000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			25	19					9.39395e-14	1.10595e-13	0.706142	1	0
C16orf90	646174	broad.mit.edu	37	16	3544576	3544576	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:3544576G>A	ENST00000437192.3	-	2	350	c.348C>T	c.(346-348)ctC>ctT	p.L116L	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	106										large_intestine(1)	1						GGGCTGAACAGAGGCTGTTAC	0.672000													14	40					0	0	0.624587	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526072	176526072	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:176526072G>C	ENST00000367662.3	+	2	1778	c.614G>C	c.(613-615)cGg>cCg	p.R205P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	205					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R205P(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAGAGGCGGGCGGAAGAT	0.562000													139	142					0	0	0.870114	0	0
ZNF304	57343	broad.mit.edu	37	19	57868090	57868090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:57868090G>T	ENST00000391705.3	+	4	1137	c.853G>T	c.(853-855)Gga>Tga	p.G285*	ZNF304_ENST00000598744.1_Nonsense_Mutation_p.G243*|ZNF304_ENST00000443917.2_Nonsense_Mutation_p.G332*|ZNF304_ENST00000282286.5_Nonsense_Mutation_p.G285*	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G285*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TAAGGAGTGTGGAAAAGCCTT	0.418000													23	64					2.32416e-17	2.9228e-17	0.624587	1	0
SELP	6403	broad.mit.edu	37	1	169580746	169580746	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:169580746G>T	ENST00000263686.6	-	7	1168	c.1131C>A	c.(1129-1131)ccC>ccA	p.P377P	SELP_ENST00000367788.2_Silent_p.P315P|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Silent_p.P315P|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	377	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P377P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGGTTGGCAAGGGTGCAGACC	0.542000													33	155					2.46105e-21	3.16694e-21	0.750413	1	0
MIPEP	4285	broad.mit.edu	37	13	24444289	24444289	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:24444289T>C	ENST00000382172.3	-	6	747	c.649A>G	c.(649-651)Agt>Ggt	p.S217G		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	217					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.S217G(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGAAATGTACTACTCAAATCC	0.363000													20	41					0	0	0.575678	0	0
MRPL22	29093	broad.mit.edu	37	5	154320812	154320812	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:154320812A>G	ENST00000523037.1	+	2	105	c.64A>G	c.(64-66)Aag>Gag	p.K22E	MRPL22_ENST00000439747.3_Missense_Mutation_p.K48E|MRPL22_ENST00000265229.8_5'UTR|MRPL22_ENST00000522038.1_Missense_Mutation_p.K22E	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	22					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.K22E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCCGGGGGAAGCTGGCCTT	0.537000													13	110					0	0	0.457914	0	0
SPTA1	6708	broad.mit.edu	37	1	158590009	158590009	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:158590009G>T	ENST00000368148.3	-	44	6548	c.6368C>A	c.(6367-6369)aCa>aAa	p.T2123K	SPTA1_ENST00000368147.3_Missense_Mutation_p.T2120K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2123					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	p.T2123K(2)		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)					CACCTCCACTGTTAACCAGGT	0.498000													85	98					2.22156e-40	3.17912e-40	0.870114	1	0
TFAP2A	7020	broad.mit.edu	37	6	10398887	10398887	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:10398887C>T	ENST00000379613.3	-	7	1339	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	TFAP2A_ENST00000319516.4_Silent_p.L355L|TFAP2A_ENST00000482890.1_Silent_p.L359L|TFAP2A_ENST00000379604.2_Silent_p.L359L|TFAP2A_ENST00000379608.3_Silent_p.L353L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	359	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.L353L(1)|p.L359L(1)|p.L355L(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTGAGTTCCCCAGGGGAGATC	0.607000													33	509					0	0	0.804634	0	0
MUC4	4585	broad.mit.edu	37	3	195507717	195507717	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:195507717G>T	ENST00000463781.3	-	2	11193	c.10734C>A	c.(10732-10734)tcC>tcA	p.S3578S	MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	376					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S3578S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTGTGGATACTGAGG	0.587000													2	0					0.0784	0.0793561	0.115264	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37430689	37430689	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:37430689G>T	ENST00000374660.1	+	7	795	c.696G>T	c.(694-696)gcG>gcT	p.A232A	ANKRD30A_ENST00000602533.1_Silent_p.A232A|ANKRD30A_ENST00000361713.1_Silent_p.A232A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232A(1)		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						CACCCTTGGCGGAAAGAACAC	0.483000													10	36					0.00010058	0.000105673	0.411799	1	0
DEFB116	245930	broad.mit.edu	37	20	29891023	29891023	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:29891023G>T	ENST00000400549.1	-	2	300	c.301C>A	c.(301-303)Cac>Aac	p.H101N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	101					defense response to bacterium	extracellular region		p.H101N(2)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCAAATGTGAGAGTAGCTT	0.378000													31	100					1.62565e-12	1.9004e-12	0.760397	1	0
CYP17A1	1586	broad.mit.edu	37	10	104594740	104594740	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:104594740C>A	ENST00000369887.3	-	3	639	c.468G>T	c.(466-468)atG>atT	p.M156I	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	156					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.M156I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GGGTGGCCAGCATATCACACA	0.502000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	123					5.04308e-16	6.20112e-16	0.819951	1	0
DLD	1738	broad.mit.edu	37	7	107558381	107558381	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:107558381A>G	ENST00000205402.5	+	12	1530	c.1249A>G	c.(1249-1251)Aaa>Gaa	p.K417E	DLD_ENST00000537148.1_Missense_Mutation_p.K318E|DLD_ENST00000440410.1_Missense_Mutation_p.K394E|DLD_ENST00000437604.2_Missense_Mutation_p.K369E	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	417					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	p.K417E(4)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TATTGAGTACAAAGTTGGGAA	0.393000													30	58					0	0	0.760397	0	0
CASC5	57082	broad.mit.edu	37	15	40917230	40917230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:40917230G>T	ENST00000346991.5	+	11	5236	c.4846G>T	c.(4846-4848)Gga>Tga	p.G1616*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.G1590*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTTGAATTAGGAAATAAGGC	0.333000													15	63					0.000422831	0.000438688	0.500413	1	0
FKBPL	63943	broad.mit.edu	37	6	32097522	32097522	+	Missense_Mutation	SNP	C	C	A	rs143627051		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32097522C>A	ENST00000375156.3	-	2	306	c.36G>T	c.(34-36)aaG>aaT	p.K12N		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	12					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.K12N(2)									GAGAGGTGTCCTTTTCTCCAA	0.493000													32	18					8.16721e-17	1.01176e-16	0.750413	1	0
OR5B3	441608	broad.mit.edu	37	11	58170746	58170746	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:58170746A>T	ENST00000309403.2	-	1	136	c.137T>A	c.(136-138)tTg>tAg	p.L46*		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46*(2)|p.L46W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGAATATCAATACAATAAT	0.423000													45	96					0	0	0.853193	0	0
NSDHL	50814	broad.mit.edu	37	X	152027454	152027454	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:152027454G>T	ENST00000370274.3	+	4	602	c.408G>T	c.(406-408)ggG>ggT	p.G136G	NSDHL_ENST00000440023.1_Silent_p.G136G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	136					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.G136G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGAGGCTGGGGTTCAGGTAA	0.517000													32	35					2.08457e-15	2.5444e-15	0.750413	1	0
ANK3	288	broad.mit.edu	37	10	61844435	61844435	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:61844435C>T	ENST00000280772.1	-	32	4190	c.3999G>A	c.(3997-3999)atG>atA	p.M1333I	ANK3_ENST00000373827.2_Missense_Mutation_p.M1327I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1334I|ANK3_ENST00000355288.2_Missense_Mutation_p.M467I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1333					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M1333I(1)|p.M968I(1)|p.M467I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCATCTGTCATGCAGAAAC	0.373000													9	156					0	0	0.307466	0	0
OR2W3	343171	broad.mit.edu	37	1	248059823	248059823	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:248059823G>T	ENST00000537741.1	+	3	1192	c.935G>T	c.(934-936)gGa>gTa	p.G312V	OR2W3_ENST00000360358.3_Missense_Mutation_p.G312V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G312V(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGAGCTAGGAAAGGAGTAA	0.537000													40	43					2.19489e-29	3.03626e-29	0.819951	1	0
ZNF770	54989	broad.mit.edu	37	15	35274098	35274098	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:35274098C>T	ENST00000356321.4	-	3	1882	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R513K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGCTGACTGTCTAAAAGATTT	0.348000													21	54					0	0	0.592651	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129181	26129181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:26129181C>A	ENST00000381655.2	+	13	1380	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.S373*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	373					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S413*(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCCAGGACATCAAACCTTAAT	0.428000													36	78					1.59361e-14	1.88956e-14	0.827153	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435599	104435599	+	RNA	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:104435599G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							CCTGGTGCAGGGACGGCAGCG	0.458000													14	19					1.02788e-11	1.19321e-11	0.520397	1	0
HLX	3142	broad.mit.edu	37	1	221055574	221055574	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:221055574G>T	ENST00000366903.6	+	3	2342	c.841G>T	c.(841-843)Gct>Tct	p.A281S	HLX_ENST00000549319.1_Missense_Mutation_p.A67S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	281					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A281S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ATGGTCGCGCGCTGTGTTCTC	0.577000													35	68					9.17885e-22	1.19038e-21	0.779181	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136291428	136291428	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:136291428G>C	ENST00000371929.3	+	6	1093	c.649G>C	c.(649-651)Gac>Cac	p.D217H	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.D217H|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.D217H	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	217	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.D217H(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACTGGCTTCGACCTGGGAGT	0.637000													29	94					0	0	0.729181	0	0
C1orf116	79098	broad.mit.edu	37	1	207200842	207200842	+	Silent	SNP	T	T	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:207200842T>A	ENST00000359470.5	-	2	351	c.102A>T	c.(100-102)ggA>ggT	p.G34G	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	34						cytoplasm|plasma membrane	receptor activity	p.G34G(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TACGTACAGATCCAGAGCGGG	0.637000													39	157					0	0	0.812448	0	0
S1PR5	53637	broad.mit.edu	37	19	10624671	10624671	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:10624671C>T	ENST00000439028.3	-	2	1142	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	S1PR5_ENST00000333430.4_Silent_p.A339A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	339						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						CAGCCGCGCTCGCCGACTGCT	0.746000													11	2					0	0	0.500413	0	0
RAB31	11031	broad.mit.edu	37	18	9814045	9814045	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr18:9814045G>A	ENST00000578921.1	+	4	471	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R77Q(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						ATGTACTATCGAGGCTCAGCT	0.378000													5	5					0	0	0.217242	0	0
PSG3	5671	broad.mit.edu	37	19	43236960	43236960	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:43236960C>T	ENST00000327495.5	-	3	869	c.685G>A	c.(685-687)Gac>Aac	p.D229N	PSG3_ENST00000595140.1_Missense_Mutation_p.D229N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	229	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.D229N(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGACTGGGTCACTGCGGCTG	0.527000													313	942					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69101202	69101202	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:69101202G>A	ENST00000543976.1	-	1	282	c.36C>T	c.(34-36)ttC>ttT	p.F12F	CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Silent_p.F12F	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	12					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.F12F(3)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCTGCTTAGCGAAGCTGGAGA	0.637000													4	77					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179012850	179012850	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:179012850C>T	ENST00000377001.2	+	8	1010	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	RUFY1_ENST00000437570.2_Missense_Mutation_p.S229L|RUFY1_ENST00000393438.2_Missense_Mutation_p.S229L|RUFY1_ENST00000319449.4_Missense_Mutation_p.S337L			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	337					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	p.S229L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACTAACTCAAAGCTTCAA	0.353000										HNSCC(44;0.11)			6	112					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240421306	240421306	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:240421306A>G	ENST00000319653.9	+	7	4357	c.4127A>G	c.(4126-4128)cAt>cGt	p.H1376R	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1376	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	p.H1519R(2)		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)			TCTAGCCTTCATTTAGATATG	0.323000													40	153					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007729	110007729	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:110007729C>T	ENST00000453089.2	+	1	1151	c.270C>T	c.(268-270)tgC>tgT	p.C90C	ZC3H12C_ENST00000528673.1_Silent_p.C122C|ZC3H12C_ENST00000278590.3_Silent_p.C121C			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	121							endonuclease activity|nucleic acid binding|zinc ion binding	p.C121C(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GACAGCTCTGCAGGTCTCCCT	0.428000													29	24					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159894386	159894386	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:159894386C>G	ENST00000434826.2	-	2	226	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	48								p.E48Q(2)		large_intestine(2)|lung(3)	5						CCAGTTTTTTCTAACGCCAGA	0.378000													49	48					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6732203	6732203	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:6732203C>G	ENST00000405858.1	-	5	911	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	ZNF12_ENST00000342651.5_Intron|ZNF12_ENST00000404360.1_Intron|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E124Q(2)		NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTTCGTTTCTACATCAAAA	0.368000													115	212					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525231	248525231	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:248525231C>A	ENST00000366475.1	+	1	349	c.349C>A	c.(349-351)Cag>Aag	p.Q117K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q117K(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GCTCCTGGACCAGGTCATGGG	0.493000													428	331					1.32631e-174	1.88289e-174	1	1	0
MT-ND1	4535	broad.mit.edu	37	MT	3697	3697	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrM:3697G>A	ENST00000361390.2	+	1	391	c.391G>A	c.(391-393)Ggc>Agc	p.131_131insS						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						ACGCCCTGATCGGCGCACTGC	0.468000													15	10					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17202725	17202725	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:17202725C>G	ENST00000261381.6	-	12	2791	c.2707G>C	c.(2707-2709)Gag>Cag	p.E903Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	903					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E903Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCCATCCCTCCAGCGCTGTG	0.667000													39	78					0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56236046	56236046	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:56236046G>A	ENST00000264228.4	+	5	973	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	249					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.E249K(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			AGACTGGTTTGAATATGTTTC	0.423000													44	190					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137748465	137748465	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:137748465C>A	ENST00000413152.2	+	1	4	c.4C>A	c.(4-6)Cat>Aat	p.H2N	THSD7B_ENST00000272643.3_Intron|THSD7B_ENST00000409968.1_Intron	NM_001080427.1	NP_001073896.1			thrombospondin, type I, domain containing 7B									p.H2N(1)		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)		CGAAACGATGCATAACACAGC	0.403000													22	47					6.32553e-13	7.03328e-13	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25422019	25422019	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:25422019G>A	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							GAAGAGAGGTGATGACTTAAA	0.542000													23	73					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524025	24524025	+	Missense_Mutation	SNP	G	G	A	rs139628724	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:24524025G>A	ENST00000376862.3	+	2	925	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	98					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.V98M(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TTCAGAGGGCGTGCTGCGCTC	0.652000													21	58					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589711	156589711	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:156589711G>T	ENST00000302938.4	-	2	1660	c.1565C>A	c.(1564-1566)tCt>tAt	p.S522Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	522						nucleus		p.S522Y(2)		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)			TCCTGTGCTAGATGCAGATTG	0.502000													70	54					6.88731e-43	8.83131e-43	1	1	0
USP39	10713	broad.mit.edu	37	2	85868209	85868209	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:85868209G>C	ENST00000323701.6	+	10	1405	c.1395G>C	c.(1393-1395)gaG>gaC	p.E465D	USP39_ENST00000409766.3_Missense_Mutation_p.E465D|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.E362D|USP39_ENST00000409470.1_Missense_Mutation_p.E465D|USP39_ENST00000409025.1_Missense_Mutation_p.E465D	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	465					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding	p.E465D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TCTTTGTTGAGAAGAATCCAA	0.393000													4	81					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132352188	132352188	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrX:132352188C>T	ENST00000310125.4	-	1	188	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	34						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V34M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AGCGGGTTCACGGTGGAGGTG	0.532000													4	18					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17983959	17983959	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr22:17983959C>T	ENST00000262608.8	+	6	658	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	CECR2_ENST00000342247.5_Missense_Mutation_p.R219C|CECR2_ENST00000400573.4_Missense_Mutation_p.R239C|CECR2_ENST00000400585.2_Missense_Mutation_p.R98C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	261					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.R239C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGAGAGTTTTCGCGAGAGGAC	0.562000													42	94					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:5283318C>A	ENST00000546004.1	-	3	769	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	PROKR2_ENST00000217270.3_Missense_Mutation_p.A175S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A175S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493000										HNSCC(71;0.22)			103	205					9.56113e-55	1.28832e-54	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141055419	141055419	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:141055419A>T	ENST00000389484.3	-	84	13896	c.12925T>A	c.(12925-12927)Tgc>Agc	p.C4309S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4309	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C4309S(2)		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)		TGGCAGTGGCAGTAAGGCTGG	0.468000										TSP Lung(27;0.18)			252	547					0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82126540	82126540	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:82126540C>G	ENST00000372199.1	+	6	965	c.367C>G	c.(367-369)Cca>Gca	p.P123A	DYDC2_ENST00000444807.2_Missense_Mutation_p.P123A|DYDC2_ENST00000372198.1_Missense_Mutation_p.P137A|DYDC2_ENST00000372197.1_Missense_Mutation_p.P123A|DYDC2_ENST00000256039.2_Missense_Mutation_p.P123A			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	123							protein binding	p.P123A(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GGAATTCCTGCCAGGTACTTC	0.468000													50	90					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064233	7064233	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:7064233G>C	ENST00000299481.4	+	4	1322	c.976G>C	c.(976-978)Gag>Cag	p.E326Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	326	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E326Q(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCATTATGTAGAGCTACTAGG	0.403000													81	220					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173710	51173710	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:51173710G>T	ENST00000440970.1	-	2	2563	c.2132C>A	c.(2131-2133)tCt>tAt	p.S711Y	SALL1_ENST00000251020.4_Missense_Mutation_p.S808Y|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	808					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S808Y(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCTGTGTCAGACTCCATGGA	0.507000													78	151					1.4051e-37	1.75914e-37	1	1	0
COX4I1	1327	broad.mit.edu	37	16	85838571	85838571	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:85838571G>A	ENST00000564903.1	+	2	106	c.102G>A	c.(100-102)tcG>tcA	p.S34S	COX4I1_ENST00000561569.1_Silent_p.S34S|COX4I1_ENST00000562336.1_Silent_p.S34S|COX4I1_ENST00000253452.2_Silent_p.S34S|COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000568794.1_Silent_p.S34S			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	34					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	p.S34S(2)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				AAGACTTTTCGCTCCCAGCTT	0.473000													19	33					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564758	37564758	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:37564758G>A	ENST00000300651.6	-	17	3939	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1239	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S1239L(2)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCAGAGCTTGAACTAGTTCC	0.502000										HNSCC(31;0.082)			15	51					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33212662	33212662	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:33212662T>C	ENST00000396033.2	-	7	928	c.793A>G	c.(793-795)Att>Gtt	p.I265V	ITGB1_ENST00000302278.3_Missense_Mutation_p.I265V|ITGB1_ENST00000374956.4_Missense_Mutation_p.I265V|ITGB1_ENST00000423113.1_Missense_Mutation_p.I265V	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	265	VWFA.			CGSLI -> VWMLL (in Ref. 6; AAI13902).	axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.I265V(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTCCAGCCAATCAGTGACTTG	0.368000													3	63					0	0	1	0	0
ASIP	434	broad.mit.edu	37	20	32850663	32850663	+	Silent	SNP	C	C	T	rs149537165		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:32850663C>T	ENST00000568305.1	+	3	388	c.186C>T	c.(184-186)atC>atT	p.I62I	ASIP_ENST00000374954.3_Silent_p.I62I|RP4-785G19.5_ENST00000512005.1_RNA			P42127	ASIP_HUMAN	agouti signaling protein	62	Arg/Lys-rich (basic).				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		p.I62I(1)		central_nervous_system(1)|lung(2)	3						CCAAACAGATCGGCAGAAAAG	0.468000													15	87					0	0	1	0	0
ISL1	3670	broad.mit.edu	37	5	50683505	50683505	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:50683505G>A	ENST00000230658.7	+	3	985	c.400G>A	c.(400-402)Gat>Aat	p.D134N	ISL1_ENST00000511384.1_Missense_Mutation_p.D134N|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	134					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D134N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGCAGACCACGATGTGGTGGA	0.652000													38	63					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55060292	55060292	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:55060292G>A	ENST00000371316.3	+	6	617	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ACOT11_ENST00000343744.2_Missense_Mutation_p.E179K|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	179					fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.E179K(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGTGGCGGCTGAGCGCCGGCG	0.642000													4	32					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186643668	186643668	+	Silent	SNP	G	G	A	rs139087930		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:186643668G>A	ENST00000367468.5	-	10	1768	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	544					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.I544I(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGTGTTGATGATTTGAAAAC	0.433000													125	360					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95114416	95114416	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:95114416G>T	ENST00000377028.5	-	5	1304	c.891C>A	c.(889-891)acC>acA	p.T297T	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Silent_p.T297T	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	297					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.T297T(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CATTGCACAAGGTGACCAGGT	0.413000													39	64					1.19451e-25	1.43884e-25	1	1	0
NEU2	4759	broad.mit.edu	37	2	233897387	233897387	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:233897387G>A	ENST00000233840.3	+	1	6	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	2							exo-alpha-sialidase activity	p.A2A(2)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCCCCATGGCGTCCCTTCCTG	0.617000													61	54					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33749265	33749265	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:33749265T>A	ENST00000394562.1	-	4	1306	c.783A>T	c.(781-783)gaA>gaT	p.E261D	SLFN12_ENST00000452764.3_Missense_Mutation_p.E261D|SLFN12_ENST00000304905.5_Missense_Mutation_p.E261D			Q8IYM2	SLN12_HUMAN	schlafen family member 12	261							ATP binding	p.E261D(2)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGATTTCTCTTTCTAAGTCAT	0.338000													116	202					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102303140	102303140	+	RNA	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:102303140G>C	ENST00000561463.1	+	0	11186																											ACCTGCACTAGCGTGGGAACG	0.602000													3	11					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741992	140741992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:140741992G>T	ENST00000522605.1	+	1	2290	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.E764*(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAGACAGAGTTCAATTT	0.498000													107	81					1.73015e-75	2.3715e-75	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25459873	25459873	+	Splice_Site	SNP	G	G	A	rs35824014		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:25459873G>A	ENST00000264709.3	-	21	2747	c.2408_splice	c.e21-1	p.P804_splice	DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000402667.1_Splice_Site_p.P581_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.P804_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.P615_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	804					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCAACGGCCTAGGAGGC	0.582000			"""Mis, F, N, S"""		AML								16	20					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181708376	181708376	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:181708376G>T	ENST00000526775.1	+	24	3814	c.3649G>T	c.(3649-3651)Gcc>Tcc	p.A1217S	CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1236S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1217S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1236S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1168S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.A843S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1187S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1236					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1236S(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCATTGGTGGCCTTTGCTCT	0.498000													434	355					7.81476e-304	1.11941e-303	1	1	0
ALKBH1	8846	broad.mit.edu	37	14	78140367	78140367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr14:78140367C>A	ENST00000216489.3	-	6	973	c.958G>T	c.(958-960)Gag>Tag	p.E320*		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	320	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E320*(1)		endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GAACAAGGCTCTACCATTGAA	0.562000													23	252					6.21074e-16	7.05363e-16	1	1	0
FARSB	10056	broad.mit.edu	37	2	223489197	223489197	+	Splice_Site	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:223489197C>G	ENST00000281828.6	-	12	1227	c.962_splice	c.e12-1	p.E322_splice	FARSB_ENST00000536361.1_Splice_Site_p.E223_splice	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	322	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.E322Q(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TCTGGAGTTTCTCTGAAAAAG	0.343000													9	25					0	0	1	0	0
JRKL	8690	broad.mit.edu	37	11	96124962	96124962	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:96124962A>C	ENST00000458427.1	+	1	1805	c.1149A>C	c.(1147-1149)agA>agC	p.R383S	JRKL_ENST00000332349.4_Missense_Mutation_p.R383S|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	383	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R383S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CCATTAGCAGAGCATGGAAGA	0.408000													8	400					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	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_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_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	18					6.40141e-05	6.56661e-05	1	1	0
AKAP11	11215	broad.mit.edu	37	13	42876365	42876365	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:42876365G>T	ENST00000025301.2	+	8	3658	c.3483G>T	c.(3481-3483)gaG>gaT	p.E1161D		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1161					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.E1161D(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAAAAGAAGAGTTCATGTTGA	0.428000													39	75					3.54561e-26	4.30344e-26	1	1	0
ECI1	1632	broad.mit.edu	37	16	2293439	2293439	+	Splice_Site	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:2293439C>T	ENST00000301729.4	-	5	490	c.441_splice	c.e5-1	p.G148_splice	ECI1_ENST00000570258.1_Splice_Site_p.G89_splice|ECI1_ENST00000562238.1_Splice_Site_p.G148_splice	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	148					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	p.G148E(2)		endometrium(1)|large_intestine(2)|lung(6)	9						GGGGCAGGCTCCCTGCAGGGA	0.652000													3	4					0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98218671	98218671	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:98218671C>A	ENST00000430669.2	-	19	3580	c.2995G>T	c.(2995-2997)Gtc>Ttc	p.V999F	PTCH1_ENST00000429896.2_Missense_Mutation_p.V914F|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1064F|PTCH1_ENST00000418258.1_Missense_Mutation_p.V914F|PTCH1_ENST00000437951.1_Missense_Mutation_p.V999F|PTCH1_ENST00000421141.1_Missense_Mutation_p.V914F|PTCH1_ENST00000331920.6_Missense_Mutation_p.V1065F			Q13635	PTC1_HUMAN	patched 1	1065					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1065F(4)|p.V1064F(4)|p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACAGCTCGACCGTCATCAGC	0.627000													16	47					1.99824e-07	2.13235e-07	1	1	0
ANO7	50636	broad.mit.edu	37	2	242141661	242141661	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:242141661T>C	ENST00000274979.8	+	8	930	c.827T>C	c.(826-828)cTt>cCt	p.L276P	ANO7_ENST00000402430.3_Missense_Mutation_p.L275P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	276						cell junction|chloride channel complex|cytosol	chloride channel activity	p.L276P(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAAAACCTGCTTGGGATCCAC	0.612000													7	14					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4512261	4512261	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:4512261C>G	ENST00000301286.3	-	3	1668	c.1669G>C	c.(1669-1671)Ggg>Cgg	p.G557R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	557	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G557R(2)|p.G485R(2)		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						CCCGTGAGCCCAGTGGACATC	0.612000													5	38					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132075715	132075715	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:132075715C>T	ENST00000336375.5	+	10	1244	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	ACPP_ENST00000475741.1_Missense_Mutation_p.T352I|ACPP_ENST00000351273.7_Intron	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	385						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.T385I(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAAGACAGTACAGATTAGTGT	0.502000													120	177					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55996691	55996691	+	Splice_Site	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:55996691C>A	ENST00000373965.2	-	9	1271	c.876_splice	c.e9-1	p.E293_splice	PCDH15_ENST00000320301.6_Splice_Site_p.E293_splice|PCDH15_ENST00000395446.1_Splice_Site_p.E293_splice|PCDH15_ENST00000361849.3_Splice_Site_p.E293_splice|PCDH15_ENST00000373955.1_Splice_Site_p.E293_splice|PCDH15_ENST00000414778.1_Splice_Site_p.E298_splice|PCDH15_ENST00000373957.3_Splice_Site_p.E271_splice|PCDH15_ENST00000395430.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395432.2_Splice_Site_p.E256_splice|PCDH15_ENST00000437009.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395438.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395440.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395433.1_Splice_Site_p.E271_splice|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395442.1_Splice_Site_p.E293_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	293	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E293*(4)|p.E298*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCAGTTCTTCCTGAAAAAAA	0.398000										HNSCC(58;0.16)			46	88					4.64027e-19	5.34639e-19	1	1	0
C8A	731	broad.mit.edu	37	1	57349288	57349288	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:57349288G>T	ENST00000361249.3	+	6	885	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	263	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.V263V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTATTGGTGGGTGTAGGTG	0.403000													47	101					3.40343e-31	4.22769e-31	1	1	0
REG1B	5968	broad.mit.edu	37	2	79314691	79314691	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:79314691G>C	ENST00000305089.3	-	2	128	c.48C>G	c.(46-48)ttC>ttG	p.F16L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	16					cell proliferation	extracellular region	sugar binding	p.F16L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGAGACAGGAACATCAGGG	0.473000													42	82					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204589053	204589053	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:204589053A>G	ENST00000367175.1	-	1	2280	c.68T>C	c.(67-69)gTa>gCa	p.V23A	LRRN2_ENST00000367177.3_Missense_Mutation_p.V23A|LRRN2_ENST00000367176.3_Missense_Mutation_p.V23A|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	23	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.V23A(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGCCAGGGTACCACGGGCAC	0.647000													37	42					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799512	67799512	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:67799512T>C	ENST00000377861.3	-	2	3747	c.3061A>G	c.(3061-3063)Ata>Gta	p.I1021V	PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000377865.2_Intron|PCDH9_ENST00000544246.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAGTACTTATAGACCAGTAA	0.423000													31	57					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764617	109764617	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrX:109764617G>A	ENST00000602699.1	+	0	1078					NR_002718.2																						CTGAATGGGGGAACCTGCATG	0.577000													19	119					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615507	4615507	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:4615507C>T	ENST00000450052.2	+	2	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F	OR52I1_ENST00000530443.2_Missense_Mutation_p.S80F			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S105F(2)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCTCCTCCGTGGTACCC	0.502000													270	391					0	0	1	0	0
SCIN	85477	broad.mit.edu	37	7	12668762	12668762	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:12668762G>A	ENST00000297029.5	+	9	1335	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	SCIN_ENST00000519209.1_Missense_Mutation_p.D165N|SCIN_ENST00000445618.2_Missense_Mutation_p.D165N	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	412	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.D412N(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GATCCAAGTTGACCAAAACTC	0.368000													53	115					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	534814	534814	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:534814T>A	ENST00000437048.2	-	8	809	c.663A>T	c.(661-663)gaA>gaT	p.E221D	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.E23D|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.E221D|VPS53_ENST00000291074.5_Missense_Mutation_p.E192D|VPS53_ENST00000574029.1_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	221					protein transport	endosome membrane|Golgi apparatus		p.E192D(2)|p.E221D(2)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AAGGAAACGCTTCTTCAAAAT	0.498000													94	115					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14803804	14803804	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr18:14803804C>A	ENST00000358984.4	+	24	2445	c.2265C>A	c.(2263-2265)acC>acA	p.T755T	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	840								p.T755T(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AATTCGATACCTTAAGTGGAA	0.323000													11	35					6.31663e-08	6.78611e-08	1	1	0
PLTP	5360	broad.mit.edu	37	20	44536520	44536520	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:44536520G>A	ENST00000477313.1	-	5	1103	c.509C>T	c.(508-510)aCg>aTg	p.T170M	PLTP_ENST00000372420.1_Missense_Mutation_p.T82M|PLTP_ENST00000372431.3_Missense_Mutation_p.T170M|PLTP_ENST00000420868.2_Missense_Mutation_p.T75M|PLTP_ENST00000354050.4_Missense_Mutation_p.T118M|PLTP_ENST00000542937.1_Missense_Mutation_p.T190M			P55058	PLTP_HUMAN	phospholipid transfer protein	170					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	p.T170M(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGTGATGAACGTGGAGAGAAA	0.582000													3	30					0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15902236	15902236	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:15902236G>A	ENST00000277632.3	-	1	283	c.63C>T	c.(61-63)ctC>ctT	p.L21L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	21					apoptosis	nucleus	calcium ion binding	p.L21L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGGTGTCCGAGAGACCGGGGC	0.617000													12	16					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167006659	167006659	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:167006659C>G	ENST00000455345.2	-	18	2275	c.1992G>C	c.(1990-1992)aaG>aaC	p.K664N	ZBBX_ENST00000307529.5_Missense_Mutation_p.K664N|ZBBX_ENST00000392766.2_Intron|ZBBX_ENST00000392764.1_Intron|ZBBX_ENST00000392767.2_Intron			A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	626	Ser-rich.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTACCCATCTTTTGCTGTT	0.418000													21	44					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152248	66152248	+	RNA	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:66152248C>A	ENST00000489520.2	-	0	695					NR_026825.2																						ACTTCCCAGGCCAGCATCTAC	0.483000													14	63					2.4624e-09	2.70015e-09	1	1	0
CHKB-CPT1B	386593	broad.mit.edu	37	22	51018161	51018161	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr22:51018161G>A	ENST00000453634.1	-	1	20	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CHKB-CPT1B_ENST00000452668.1_Intron|CHKB_ENST00000406938.2_Silent_p.V342V														p.V342V(2)									CTCACCGACTGACTTCTACCA	0.522000													6	10					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109777480	109777480	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:109777480C>A	ENST00000356711.2	+	30	3616	c.3490C>A	c.(3490-3492)Cgc>Agc	p.R1164S	MYO16_ENST00000457511.2_Missense_Mutation_p.R676S|MYO16_ENST00000357550.2_Missense_Mutation_p.R1164S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1164	IQ.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.R1164S(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTTTAGCACGCCAGCACCT	0.393000													22	27					4.4004e-07	4.63354e-07	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20110503	20110503	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr8:20110503G>A	ENST00000381569.1	-	3	1296	c.939C>T	c.(937-939)ggC>ggT	p.G313G	LZTS1_ENST00000522290.1_Silent_p.G313G|LZTS1_ENST00000265801.6_Silent_p.G313G			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	313					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G313G(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTTGTTGCCGCCTTTGGGCT	0.682000													20	25					0	0	1	0	0
TMEM99	147184	broad.mit.edu	37	17	38991095	38991095	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:38991095C>T	ENST00000301665.3	+	3	631	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	109						integral to membrane		p.F109F(2)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTTGCTCTTCAACAACTGGA	0.493000													211	306					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29997963	29997963	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:29997963C>T	ENST00000308893.4	+	16	3413	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Intron|TAOK2_ENST00000416441.2_Silent_p.G617G	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	790					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.G790G(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAATGCTTGGCGAGGAGGAGG	0.597000													21	35					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776193	5776193	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:5776193A>T	ENST00000317254.3	+	1	271	c.223A>T	c.(223-225)Atg>Ttg	p.M75L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M75L(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGACCTTGTTATGTGCTCTAG	0.458000													173	292					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44865727	44865727	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:44865727C>A	ENST00000558319.1	-	32	6253	c.6223G>T	c.(6223-6225)Gat>Tat	p.D2075Y	SPG11_ENST00000535302.2_Intron|SPG11_ENST00000261866.7_Intron|SPG11_ENST00000427534.2_Intron			Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	0					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGTTGGGAATCCCCGGGGGGT	0.502000													13	30					1.3612e-06	1.4054e-06	1	1	0
TXNDC15	79770	broad.mit.edu	37	5	134235280	134235280	+	Missense_Mutation	SNP	T	T	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:134235280T>G	ENST00000358387.4	+	5	1613	c.988T>G	c.(988-990)Tta>Gta	p.L330V	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L307V	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	330					cell redox homeostasis	integral to membrane		p.L330V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTATTTTCCTTATTCTTTTT	0.403000													20	21					0	0	1	0	0
MT-CO2	4513	broad.mit.edu	37	MT	7776	7776	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrM:7776T>C	ENST00000361739.1	+	1	191	c.191T>C	c.(190-192)gTc>gCc	p.V64A						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AATAGAAACCGTCTGAACTAT	0.463000													11	10					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11720872	11720872	+	Missense_Mutation	SNP	C	C	T	rs148901217		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:11720872C>T	ENST00000381486.2	+	7	1115	c.815C>T	c.(814-816)cCg>cTg	p.P272L	GREB1_ENST00000381483.2_Missense_Mutation_p.P272L|GREB1_ENST00000389825.3_Missense_Mutation_p.P162L|GREB1_ENST00000234142.5_Missense_Mutation_p.P272L|GREB1_ENST00000263834.5_Missense_Mutation_p.P272L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	272						integral to membrane		p.P272L(6)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAATGGGTCCGGCTGTTTTC	0.532000													32	64					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166644	161166644	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:161166644C>T	ENST00000367996.4	-	2	1088	c.660G>A	c.(658-660)gtG>gtA	p.V220V	ADAMTS4_ENST00000367995.3_Silent_p.V220V	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	220	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.V220V(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCAGTGTCTCCACAAATCTAC	0.537000													147	231					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178691	57178691	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:57178691C>G	ENST00000554643.1	+	5	976	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HSD17B6_ENST00000554150.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555805.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555159.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000322165.1_Missense_Mutation_p.F209L			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	209					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	p.F209L(3)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	CTGGCTACTTCAGAACGGGAA	0.423000													56	101					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894107	123894107	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:123894107A>T	ENST00000375024.1	+	1	388	c.388A>T	c.(388-390)Agg>Tgg	p.R130W		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		TTACCCGCTCAGGTACACCAG	0.537000													181	148					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215807951	215807951	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:215807951C>T	ENST00000366943.2	-	70	15533	c.15147G>A	c.(15145-15147)atG>atA	p.M5049I	USH2A_ENST00000307340.3_Missense_Mutation_p.M5049I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5049					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.M5049I(2)		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)		TCAAGCCCAGCATCGCCATTA	0.463000										HNSCC(13;0.011)			38	105					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5105125	5105125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:5105125G>T	ENST00000396912.1	+	5	2557	c.2038G>T	c.(2038-2040)Gaa>Taa	p.E680*	RBAK_ENST00000353796.3_Nonsense_Mutation_p.E680*|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	680	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E680*(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAACCCTATGAATGTAACGA	0.388000													75	160					2.20581e-54	2.94726e-54	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17466001	17466001	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:17466001G>T	ENST00000380647.3	+	22	3638	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	CNTLN_ENST00000262360.5_Missense_Mutation_p.C1185F|CNTLN_ENST00000425824.1_Missense_Mutation_p.C1185F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1185						centriole|membrane	two-component sensor activity	p.C1185F(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ACTGAAGAATGTTCCAACAAG	0.308000													34	59					1.47244e-24	1.74715e-24	1	1	0
XYLB	9942	broad.mit.edu	37	3	38454427	38454427	+	Splice_Site	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:38454427G>T	ENST00000207870.3	+	19	1624	c.1533_splice	c.e19-1	p.V512_splice	XYLB_ENST00000542835.1_Splice_Site_p.V375_splice|XYLB_ENST00000472721.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	512					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	p.V512F(2)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCCCTTCTAGGTCTACGAGGC	0.498000													79	134					1.15724e-44	1.5082e-44	1	1	0
C17orf70	80233	broad.mit.edu	37	17	79517286	79517286	+	Missense_Mutation	SNP	T	T	C	rs151231414	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:79517286T>C	ENST00000537152.1	-	3	1306	c.781A>G	c.(781-783)Agg>Ggg	p.R261G	C17orf70_ENST00000327787.8_Missense_Mutation_p.R412G	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	412					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.R261G(1)|p.R412G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCATGCGTCCTGGGAGACGCG	0.612000													3	19					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116497337	116497337	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:116497337C>G	ENST00000410059.1	+	9	1200	c.720C>G	c.(718-720)atC>atG	p.I240M	DPP10_ENST00000310323.8_Missense_Mutation_p.I233M|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.I244M|DPP10_ENST00000409163.1_Missense_Mutation_p.I190M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	240					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.I233M(2)|p.I240M(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTCTCACATCGCCCACTGGT	0.463000													91	156					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244361	46244361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:46244361C>T	ENST00000334344.6	+	15	2627	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q429*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q670*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	819	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q819*(3)		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)		TTCACAGGGTCAACAGTTAAT	0.453000			"""N, S, F"""		hepatocellular carcinoma								56	58					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777759	43777759	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:43777759C>T	ENST00000389420.3	-	30	4473	c.4474G>A	c.(4474-4476)Gga>Aga	p.G1492R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1492	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.G1492R(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTGAACTCCAGAGCCACAG	0.438000													68	127					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641036	102641036	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:102641036G>A	ENST00000332549.3	+	7	1022	c.793G>A	c.(793-795)Ggc>Agc	p.G265S	IL1R2_ENST00000441002.1_Missense_Mutation_p.G265S|IL1R2_ENST00000393414.2_Missense_Mutation_p.G265S|IL1R2_ENST00000485335.1_3'UTR	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	265	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.G265S(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCTGGGAACCGGCACACCCTT	0.607000													45	98					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051323	38051323	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:38051323G>A	ENST00000261439.4	+	11	2069	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	TBC1D1_ENST00000508802.1_Missense_Mutation_p.D572N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	572						nucleus	Rab GTPase activator activity	p.D572N(3)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCTGTCCAGTGACTCGGAGAG	0.592000													40	77					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114466398	114466398	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:114466398A>C	ENST00000513154.1	-	9	2013	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	TRIM36_ENST00000282369.3_Missense_Mutation_p.F575V|TRIM36_ENST00000514154.1_Missense_Mutation_p.F420V			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	575	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.F575V(2)		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)		AAGGCCCAGAAGTGTTTTCCT	0.448000													110	325					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539676	56539676	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:56539676G>A	ENST00000390649.3	+	7	2077	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	693						mitochondrion|nucleolus	ATP binding	p.E693K(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCTTTTCGAGACTCAAGA	0.517000													43	96					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509951	105509951	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr8:105509951C>G	ENST00000276654.5	-	5	937	c.829G>C	c.(829-831)Gac>Cac	p.D277H	LRP12_ENST00000424843.2_Missense_Mutation_p.D258H	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	277	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.D277H(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGATAAAAGTCTGGATAATTG	0.403000													18	54					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26491830	26491830	+	Silent	SNP	G	G	A	rs115609834	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:26491830G>A	ENST00000295589.3	-	1	254	c.60C>T	c.(58-60)ctC>ctT	p.L20L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	20					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.L20L(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTTCGAGCCCGAGTTCACAGG	0.488000													5	199					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600510	10600510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:10600510C>A	ENST00000171111.5	-	4	1892	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E449*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E449*(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AAGTGCCACTCATCCCGCTCT	0.537000													11	4					0.0167234	0.0167234	1	1	0
TTN	7273	broad.mit.edu	37	2	179412361	179412361	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:179412361C>T	ENST00000589042.1	-	339	94216	c.93992G>A	c.(93991-93993)gGa>gAa	p.G31331E	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28763E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29690E|TTN_ENST00000342175.6_Missense_Mutation_p.G22458E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G22266E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22391E|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29690	Fibronectin type-III 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G22458E(1)|p.G22266E(1)|p.G28763E(1)|p.G22391E(1)|p.G28761E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGGTTCTCCCCATGACAG	0.478000													9	318					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:90161753T>C	ENST00000564451.1	+	0	1106				TUBB8P7_ENST00000567960.1_RNA																							CAGACAGGATTATAAACACAT	0.562000													4	83					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119024780	119024780	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:119024780C>A	ENST00000307417.3	+	3	647	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	ABCG4_ENST00000449422.2_Silent_p.R95R|ABCG4_ENST00000531739.1_Silent_p.R95R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	95	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.R95R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATTCTGCCGCCGGGAGCTGAT	0.532000													39	72					7.77372e-23	9.0884e-23	1	1	0
CASC5	57082	broad.mit.edu	37	15	40917231	40917231	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:40917231G>T	ENST00000346991.5	+	11	5237	c.4847G>T	c.(4846-4848)gGa>gTa	p.G1616V	CASC5_ENST00000399668.2_Missense_Mutation_p.G1590V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTGAATTAGGAAATAAGGCA	0.333000													12	38					7.93312e-07	8.24422e-07	1	1	0
SULT1C3	442038	broad.mit.edu	37	2	108881397	108881397	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:108881397G>T	ENST00000329106.2	+	6	738	c.738G>T	c.(736-738)atG>atT	p.M246I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	246						cytoplasm	alcohol sulfotransferase activity	p.M246I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACCCAATGACCAACTATA	0.383000													97	184					1.76152e-51	2.31473e-51	1	1	0
SDAD1	55153	broad.mit.edu	37	4	76898821	76898821	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:76898821C>A	ENST00000356260.5	-	4	501	c.383G>T	c.(382-384)tGc>tTc	p.C128F	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	128					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.C128F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTATCATGGCAACGAAAAAG	0.383000													38	173					2.52991e-16	2.89392e-16	1	1	0
BNC1	646	broad.mit.edu	37	15	83932641	83932641	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:83932641G>A	ENST00000345382.2	-	4	1447	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.P447P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	454					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P454P(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAGGGTAGCTGGGAGGAGGCC	0.547000													19	39					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141946049	141946049	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:141946049G>T	ENST00000389484.3	-	7	1925	c.954C>A	c.(952-954)gtC>gtA	p.V318V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	318					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V318V(2)		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)		CAATCAGGGTGACACATACAG	0.413000										TSP Lung(27;0.18)			39	103					1.76056e-25	2.10473e-25	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35274816	35274816	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:35274816C>T	ENST00000356321.4	-	3	1164	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E274K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCACCAATCTCACCATTTTCA	0.388000													6	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407873	179407873	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:179407873C>T	ENST00000589042.1	-	347	97051	c.96827G>A	c.(96826-96828)aGa>aAa	p.R32276K	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29708K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30635K|TTN_ENST00000342175.6_Missense_Mutation_p.R23403K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23211K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23336K|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30635	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R29708K(2)|p.R23336K(2)|p.R23211K(2)|p.R23403K(2)|p.R29706K(2)|p.R29706T(1)|p.R23403T(1)|p.R23211T(1)|p.R29708T(1)|p.R23336T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCCTTATTCTAAATAAGTA	0.418000													123	402					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109766	54109766	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:54109766C>T	ENST00000548263.1	-	9	1119	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	CALCOCO1_ENST00000262059.4_Silent_p.Q357Q|CALCOCO1_ENST00000550804.1_Silent_p.Q357Q|CALCOCO1_ENST00000430117.2_Silent_p.Q272Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	357					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.Q357Q(2)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGTGGCTTTCTGCTGGCTTG	0.612000													46	23					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107634	114107634	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:114107634G>A	ENST00000375418.3	-	1	205	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.S40F(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CAGGCCCCCGGAACGTTGCAG	0.597000													16	52					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328171	23328171	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:23328171G>A	ENST00000597761.2	+	4	524	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.E109K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATGTAGACATGAGAATTTACT	0.333000													16	20					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013156	73013156	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:73013156C>T	ENST00000308744.6	+	4	1294	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S297L|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S300L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	399					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.S399L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATGATGCTCTCAGACTACGCT	0.483000													82	170					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9203982	9203982	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:9203982C>A	ENST00000429566.3	+	1	128	c.62C>A	c.(61-63)cCa>cAa	p.P21Q		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21Q(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCAGAAAAGCCAGAGCAGGAG	0.507000													69	32					3.14276e-30	3.87364e-30	1	1	0
GLI3	2737	broad.mit.edu	37	7	42012056	42012056	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:42012056C>G	ENST00000395925.3	-	13	2067	c.1983G>C	c.(1981-1983)caG>caC	p.Q661H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	661					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	p.Q661H(2)		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						GCGACCTGGACTGTGAATGGC	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				18	40					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3041474	3041474	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:3041474C>A	ENST00000397114.3	-	11	1339	c.963G>T	c.(961-963)ccG>ccT	p.P321P	CARS_ENST00000380525.4_Silent_p.P414P|CARS_ENST00000278224.9_Silent_p.P331P|CARS_ENST00000397111.5_Silent_p.P331P|CARS_ENST00000401769.3_Silent_p.P344P			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	331					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	p.P331P(2)|p.P414P(2)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACGGCCAGGACGGTTCTCCGG	0.622000			T	ALK	ALCL								32	103					5.71845e-15	6.44847e-15	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51032016	51032016	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:51032016C>T	ENST00000261854.5	-	6	868	c.594G>A	c.(592-594)ttG>ttA	p.L198L		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	198						integral to membrane	aspartic-type endopeptidase activity	p.L198L(4)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCACTGCTTTCAAGTTTTCCC	0.323000													9	31					0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779054	156779054	+	Missense_Mutation	SNP	C	C	T	rs147765972		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:156779054C>T	ENST00000392306.2	-	7	1112	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.A297T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.A315T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	315	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.A325T(2)|p.A315T(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAAGGGTGGCGGGTAGGCCC	0.597000													327	764					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343128	69343128	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:69343128C>T	ENST00000305363.4	+	8	813	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	250	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T250I(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368000													122	263					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													3	28					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:49724313G>T	ENST00000551245.1	+	13	1796	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000257909.3_Missense_Mutation_p.S562I|TROAP_ENST00000547923.1_Missense_Mutation_p.S270I			Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592000													5	120					0.014758	0.0148514	1	1	0
KY	339855	broad.mit.edu	37	3	134322838	134322838	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:134322838C>T	ENST00000508956.1	-	10	1563	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.L523L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	523						cytoskeleton|Z disc	peptidase activity	p.L523L(4)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTGGACTTTCAGCTCGGTCT	0.527000													37	77					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492022	56492022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr6:56492022G>A	ENST00000370754.5	-	33	4602	c.4603C>T	c.(4603-4605)Cag>Tag	p.Q1535*	DST_ENST00000244364.6_Nonsense_Mutation_p.Q1031*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q1357*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q1357*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q1357*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q1357*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q1357*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1031*|DST_ENST00000518935.1_Nonsense_Mutation_p.Q1031*|DST_ENST00000370765.6_Nonsense_Mutation_p.Q1031*			Q03001	DYST_HUMAN	dystonin	1357					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q1031*(3)|p.Q1357*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGAGTACTGTTCTGCATAT	0.338000													41	375					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526072	176526072	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:176526072G>C	ENST00000367662.3	+	2	1778	c.614G>C	c.(613-615)cGg>cCg	p.R205P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	205					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R205P(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAGAGGCGGGCGGAAGAT	0.562000													301	214					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868090	57868090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:57868090G>T	ENST00000391705.3	+	4	1137	c.853G>T	c.(853-855)Gga>Tga	p.G285*	ZNF304_ENST00000443917.2_Nonsense_Mutation_p.G332*|ZNF304_ENST00000598744.1_Nonsense_Mutation_p.G243*|ZNF304_ENST00000282286.5_Nonsense_Mutation_p.G285*	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G285*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TAAGGAGTGTGGAAAAGCCTT	0.418000													51	96					6.30371e-39	7.95468e-39	1	1	0
SELP	6403	broad.mit.edu	37	1	169580746	169580746	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:169580746G>T	ENST00000263686.6	-	7	1168	c.1131C>A	c.(1129-1131)ccC>ccA	p.P377P	SELP_ENST00000367792.2_Intron|SELP_ENST00000367788.2_Silent_p.P315P|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Silent_p.P315P|SELP_ENST00000367791.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	377	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P377P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGGTTGGCAAGGGTGCAGACC	0.542000													62	172					5.62145e-24	6.62081e-24	1	1	0
MIPEP	4285	broad.mit.edu	37	13	24444289	24444289	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:24444289T>C	ENST00000382172.3	-	6	747	c.649A>G	c.(649-651)Agt>Ggt	p.S217G		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	217					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.S217G(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGAAATGTACTACTCAAATCC	0.363000													51	87					0	0	1	0	0
MRPL22	29093	broad.mit.edu	37	5	154320812	154320812	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:154320812A>G	ENST00000523037.1	+	2	105	c.64A>G	c.(64-66)Aag>Gag	p.K22E	MRPL22_ENST00000265229.8_5'UTR|MRPL22_ENST00000522038.1_Missense_Mutation_p.K22E|MRPL22_ENST00000439747.3_Missense_Mutation_p.K48E	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	22					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.K22E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCCGGGGGAAGCTGGCCTT	0.537000													13	37					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488043	24488043	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:24488043C>T	ENST00000264463.4	-	12	2603	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	699					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R699Q(1)		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)		AGGAGTCCTCCGAGGAATAAA	0.498000										HNSCC(23;0.051)			5	115					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590009	158590009	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:158590009G>T	ENST00000368148.3	-	44	6548	c.6368C>A	c.(6367-6369)aCa>aAa	p.T2123K	SPTA1_ENST00000368147.3_Missense_Mutation_p.T2120K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2123					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	p.T2123K(2)		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)					CACCTCCACTGTTAACCAGGT	0.498000													163	153					1.70003e-76	2.35048e-76	1	1	0
TFAP2A	7020	broad.mit.edu	37	6	10398887	10398887	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr6:10398887C>T	ENST00000379613.3	-	7	1339	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	TFAP2A_ENST00000379604.2_Silent_p.L359L|TFAP2A_ENST00000319516.4_Silent_p.L355L|TFAP2A_ENST00000379608.3_Silent_p.L353L|TFAP2A_ENST00000482890.1_Silent_p.L359L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	359	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.L353L(1)|p.L359L(1)|p.L355L(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTGAGTTCCCCAGGGGAGATC	0.607000													16	305					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430689	37430689	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:37430689G>T	ENST00000374660.1	+	7	795	c.696G>T	c.(694-696)gcG>gcT	p.A232A	ANKRD30A_ENST00000361713.1_Silent_p.A232A|ANKRD30A_ENST00000602533.1_Silent_p.A232A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232A(1)		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						CACCCTTGGCGGAAAGAACAC	0.483000													11	42					4.7546e-09	5.17796e-09	1	1	0
DEFB116	245930	broad.mit.edu	37	20	29891023	29891023	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:29891023G>T	ENST00000400549.1	-	2	300	c.301C>A	c.(301-303)Cac>Aac	p.H101N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	101					defense response to bacterium	extracellular region		p.H101N(2)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCAAATGTGAGAGTAGCTT	0.378000													269	510					6.20983e-135	8.73772e-135	1	1	0
CYP17A1	1586	broad.mit.edu	37	10	104594740	104594740	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:104594740C>A	ENST00000369887.3	-	3	639	c.468G>T	c.(466-468)atG>atT	p.M156I	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	156					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.M156I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GGGTGGCCAGCATATCACACA	0.502000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	108					9.65021e-13	1.06554e-12	1	1	0
DLD	1738	broad.mit.edu	37	7	107558381	107558381	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:107558381A>G	ENST00000205402.5	+	12	1530	c.1249A>G	c.(1249-1251)Aaa>Gaa	p.K417E	DLD_ENST00000537148.1_Missense_Mutation_p.K318E|DLD_ENST00000437604.2_Missense_Mutation_p.K369E|DLD_ENST00000440410.1_Missense_Mutation_p.K394E	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	417					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	p.K417E(4)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TATTGAGTACAAAGTTGGGAA	0.393000													91	152					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917230	40917230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:40917230G>T	ENST00000346991.5	+	11	5236	c.4846G>T	c.(4846-4848)Gga>Tga	p.G1616*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.G1590*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTTGAATTAGGAAATAAGGC	0.333000													12	38					7.93312e-07	8.24422e-07	1	1	0
OR5B3	441608	broad.mit.edu	37	11	58170746	58170746	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:58170746A>T	ENST00000309403.2	-	1	136	c.137T>A	c.(136-138)tTg>tAg	p.L46*		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46*(2)|p.L46W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGAATATCAATACAATAAT	0.423000													81	159					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152027454	152027454	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrX:152027454G>T	ENST00000370274.3	+	4	602	c.408G>T	c.(406-408)ggG>ggT	p.G136G	NSDHL_ENST00000440023.1_Silent_p.G136G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	136					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.G136G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGAGGCTGGGGTTCAGGTAA	0.517000													72	33					6.11987e-43	7.91106e-43	1	1	0
MUC6	4588	broad.mit.edu	37	11	1018143	1018143	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:1018143C>T	ENST00000421673.2	-	31	4708	c.4658G>A	c.(4657-4659)cGc>cAc	p.R1553H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1553	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.R1553H(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTTCTGGTGCGTGTACTAGT	0.562000													40	97					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61844435	61844435	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:61844435C>T	ENST00000280772.1	-	32	4190	c.3999G>A	c.(3997-3999)atG>atA	p.M1333I	ANK3_ENST00000503366.1_Missense_Mutation_p.M1334I|ANK3_ENST00000373827.2_Missense_Mutation_p.M1327I|ANK3_ENST00000355288.2_Missense_Mutation_p.M467I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1333					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M1333I(1)|p.M968I(1)|p.M467I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCATCTGTCATGCAGAAAC	0.373000													17	328					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059823	248059823	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:248059823G>T	ENST00000537741.1	+	3	1192	c.935G>T	c.(934-936)gGa>gTa	p.G312V	OR2W3_ENST00000360358.3_Missense_Mutation_p.G312V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G312V(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGAGCTAGGAAAGGAGTAA	0.537000													29	19					4.11147e-13	4.60369e-13	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35274098	35274098	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:35274098C>T	ENST00000356321.4	-	3	1882	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R513K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGCTGACTGTCTAAAAGATTT	0.348000													4	35					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129181	26129181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:26129181C>A	ENST00000381655.2	+	13	1380	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.S373*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	373					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S413*(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCCAGGACATCAAACCTTAAT	0.428000													52	119					6.09941e-20	7.07887e-20	1	1	0
AGAP10	728127	broad.mit.edu	37	10	47207828	47207828	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:47207828C>A	ENST00000355232.3	-	5	3467	c.455G>T	c.(454-456)aGc>aTc	p.S152I	AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.S223I(4)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TGTACAGTTGCTTCTTCTTAT	0.264000													3	37					0.000157383	0.00016041	1	1	0
RAB9BP1	9366	broad.mit.edu	37	5	104435599	104435599	+	RNA	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:104435599G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							CCTGGTGCAGGGACGGCAGCG	0.458000													121	98					2.6061e-86	3.63483e-86	1	1	0
HLX	3142	broad.mit.edu	37	1	221055574	221055574	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:221055574G>T	ENST00000366903.6	+	3	2342	c.841G>T	c.(841-843)Gct>Tct	p.A281S	HLX_ENST00000549319.1_Missense_Mutation_p.A67S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	281					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A281S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ATGGTCGCGCGCTGTGTTCTC	0.577000													70	45					8.92729e-27	1.09188e-26	1	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136291428	136291428	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:136291428G>C	ENST00000371929.3	+	6	1093	c.649G>C	c.(649-651)Gac>Cac	p.D217H	ADAMTS13_ENST00000371916.1_Missense_Mutation_p.D217H|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.D217H|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	217	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.D217H(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACTGGCTTCGACCTGGGAGT	0.637000													7	19					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207200842	207200842	+	Silent	SNP	T	T	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:207200842T>A	ENST00000359470.5	-	2	351	c.102A>T	c.(100-102)ggA>ggT	p.G34G	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	34						cytoplasm|plasma membrane	receptor activity	p.G34G(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TACGTACAGATCCAGAGCGGG	0.637000													61	178					0	0	1	0	0
RAB31	11031	broad.mit.edu	37	18	9814045	9814045	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr18:9814045G>A	ENST00000578921.1	+	4	471	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R77Q(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						ATGTACTATCGAGGCTCAGCT	0.378000													29	39					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61460132	61460132	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:61460132A>T	ENST00000343916.3	+	18	920	c.917A>T	c.(916-918)gAc>gTc	p.D306V		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	306	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.D306V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGGGCAAGGACGGCCAGAAT	0.692000													18	43					0	0	0.575678	0	0
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:5283318C>A	ENST00000546004.1	-	3	769	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	PROKR2_ENST00000217270.3_Missense_Mutation_p.A175S			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	175						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A175S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493000										HNSCC(71;0.22)			47	152					4.86159e-25	6.25062e-25	0.870114	1	0
PSG3	5671	broad.mit.edu	37	19	43236960	43236960	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:43236960C>T	ENST00000327495.5	-	3	869	c.685G>A	c.(685-687)Gac>Aac	p.D229N	PSG3_ENST00000595140.1_Missense_Mutation_p.D229N	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	229	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.D229N(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGACTGGGTCACTGCGGCTG	0.527000													102	433					0	0	0.870114	0	0
TMF1	7110	broad.mit.edu	37	3	69101202	69101202	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:69101202G>A	ENST00000543976.1	-	1	282	c.36C>T	c.(34-36)ttC>ttT	p.F12F	CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Silent_p.F12F	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	12					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.F12F(3)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CCTGCTTAGCGAAGCTGGAGA	0.637000													17	196					0	0	0.608945	0	0
SMPD2	6610	broad.mit.edu	37	6	109764877	109764877	+	Silent	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr6:109764877A>G	ENST00000258052.3	+	10	1400	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	347					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGCGGCTGGAGGAGGGGCCG	0.632000													9	40					0	0	0.500413	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													4	136					0	0	0.150653	0	0
FMN2	56776	broad.mit.edu	37	1	240421306	240421306	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:240421306A>G	ENST00000319653.9	+	7	4357	c.4127A>G	c.(4126-4128)cAt>cGt	p.H1376R	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1376	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	p.H1519R(2)		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)			TCTAGCCTTCATTTAGATATG	0.323000													18	93					0	0	0.539581	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110007729	110007729	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:110007729C>T	ENST00000453089.2	+	1	1151	c.270C>T	c.(268-270)tgC>tgT	p.C90C	ZC3H12C_ENST00000528673.1_Silent_p.C122C|ZC3H12C_ENST00000278590.3_Silent_p.C121C			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	121							endonuclease activity|nucleic acid binding|zinc ion binding	p.C121C(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GACAGCTCTGCAGGTCTCCCT	0.428000													10	27					0	0	0.361761	0	0
C4orf45	152940	broad.mit.edu	37	4	159894386	159894386	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:159894386C>G	ENST00000434826.2	-	2	226	c.142G>C	c.(142-144)Gaa>Caa	p.E48Q	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	48								p.E48Q(2)		large_intestine(2)|lung(3)	5						CCAGTTTTTTCTAACGCCAGA	0.378000													10	15					0	0	0.361761	0	0
ZNF12	7559	broad.mit.edu	37	7	6732203	6732203	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:6732203C>G	ENST00000405858.1	-	5	911	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	ZNF12_ENST00000342651.5_Intron|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Intron	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E124Q(2)		NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTTCGTTTCTACATCAAAA	0.368000													82	188					0	0	0.870114	0	0
OR2T4	127074	broad.mit.edu	37	1	248525231	248525231	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:248525231C>A	ENST00000366475.1	+	1	349	c.349C>A	c.(349-351)Cag>Aag	p.Q117K		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q117K(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GCTCCTGGACCAGGTCATGGG	0.493000													202	205					1.1622e-97	1.62168e-97	0.870114	1	0
MT-ND1	4535	broad.mit.edu	37	MT	3697	3697	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrM:3697G>A	ENST00000361390.2	+	1	391	c.391G>A	c.(391-393)Ggc>Agc	p.131_131insS						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						ACGCCCTGATCGGCGCACTGC	0.468000													81	70					0	0	0.870114	0	0
XYLT1	64131	broad.mit.edu	37	16	17202725	17202725	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:17202725C>G	ENST00000261381.6	-	12	2791	c.2707G>C	c.(2707-2709)Gag>Cag	p.E903Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	903					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.E903Q(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCCATCCCTCCAGCGCTGTG	0.667000													24	99					0	0	0.706142	0	0
SRD5A3	79644	broad.mit.edu	37	4	56236046	56236046	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:56236046G>A	ENST00000264228.4	+	5	973	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	249					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.E249K(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			AGACTGGTTTGAATATGTTTC	0.423000													23	107					0	0	0.706142	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152248	66152248	+	RNA	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:66152248C>A	ENST00000489520.2	-	0	695					NR_026825.2																						ACTTCCCAGGCCAGCATCTAC	0.483000													5	18					0.014758	0.0149238	0.184627	1	0
SNHG14	104472715	broad.mit.edu	37	15	25422019	25422019	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:25422019G>A	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							GAAGAGAGGTGATGACTTAAA	0.542000													70	260					0	0	0.870114	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524025	24524025	+	Missense_Mutation	SNP	G	G	A	rs139628724	byFrequency	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:24524025G>A	ENST00000376862.3	+	2	925	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	98					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.V98M(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TTCAGAGGGCGTGCTGCGCTC	0.652000													58	112					0	0	0.870114	0	0
FAM71B	153745	broad.mit.edu	37	5	156589711	156589711	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:156589711G>T	ENST00000302938.4	-	2	1660	c.1565C>A	c.(1564-1566)tCt>tAt	p.S522Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	522						nucleus		p.S522Y(2)		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)			TCCTGTGCTAGATGCAGATTG	0.502000													88	99					5.81834e-28	7.58914e-28	0.870114	1	0
CECR2	27443	broad.mit.edu	37	22	17983959	17983959	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr22:17983959C>T	ENST00000262608.8	+	6	658	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	CECR2_ENST00000400585.2_Missense_Mutation_p.R98C|CECR2_ENST00000342247.5_Missense_Mutation_p.R219C|CECR2_ENST00000400573.4_Missense_Mutation_p.R239C	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	261					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.R239C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGAGAGTTTTCGCGAGAGGAC	0.562000													36	127					0	0	0.819951	0	0
LRP1B	53353	broad.mit.edu	37	2	141055419	141055419	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:141055419A>T	ENST00000389484.3	-	84	13896	c.12925T>A	c.(12925-12927)Tgc>Agc	p.C4309S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4309	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C4309S(2)		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)		TGGCAGTGGCAGTAAGGCTGG	0.468000										TSP Lung(27;0.18)			83	237					0	0	0.870114	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	27					0	0	0.184627	0	0
DYDC2	84332	broad.mit.edu	37	10	82126540	82126540	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:82126540C>G	ENST00000372199.1	+	6	965	c.367C>G	c.(367-369)Cca>Gca	p.P123A	DYDC2_ENST00000372198.1_Missense_Mutation_p.P137A|DYDC2_ENST00000372197.1_Missense_Mutation_p.P123A|DYDC2_ENST00000444807.2_Missense_Mutation_p.P123A|DYDC2_ENST00000256039.2_Missense_Mutation_p.P123A			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	123							protein binding	p.P123A(2)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GGAATTCCTGCCAGGTACTTC	0.468000													50	130					0	0	0.870114	0	0
NLRP14	338323	broad.mit.edu	37	11	7064233	7064233	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:7064233G>C	ENST00000299481.4	+	4	1322	c.976G>C	c.(976-978)Gag>Cag	p.E326Q		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	326	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.E326Q(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCATTATGTAGAGCTACTAGG	0.403000													27	121					0	0	0.740014	0	0
SALL1	6299	broad.mit.edu	37	16	51173710	51173710	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:51173710G>T	ENST00000440970.1	-	2	2563	c.2132C>A	c.(2131-2133)tCt>tAt	p.S711Y	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S808Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	808					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S808Y(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCTGTGTCAGACTCCATGGA	0.507000													58	162					1.0442e-30	1.39226e-30	0.870114	1	0
COX4I1	1327	broad.mit.edu	37	16	85838571	85838571	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:85838571G>A	ENST00000564903.1	+	2	106	c.102G>A	c.(100-102)tcG>tcA	p.S34S	COX4I1_ENST00000570123.1_3'UTR|COX4I1_ENST00000568794.1_Silent_p.S34S|COX4I1_ENST00000561569.1_Silent_p.S34S|COX4I1_ENST00000562336.1_Silent_p.S34S|COX4I1_ENST00000253452.2_Silent_p.S34S			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	34					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding	p.S34S(2)		endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				AAGACTTTTCGCTCCCAGCTT	0.473000													35	65					0	0	0.827153	0	0
MED1	5469	broad.mit.edu	37	17	37564758	37564758	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:37564758G>A	ENST00000300651.6	-	17	3939	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1239	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S1239L(2)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GCCAGAGCTTGAACTAGTTCC	0.502000										HNSCC(31;0.082)			37	79					0	0	0.788014	0	0
MMD	23531	broad.mit.edu	37	17	53485149	53485149	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:53485149C>G	ENST00000262065.3	-	4	598	c.302G>C	c.(301-303)aGa>aCa	p.R101T		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	101					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GATAACCATTCTATCACACAT	0.383000													5	69					0	0	0.248553	0	0
SELP	6403	broad.mit.edu	37	1	169580746	169580746	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:169580746G>T	ENST00000263686.6	-	7	1168	c.1131C>A	c.(1129-1131)ccC>ccA	p.P377P	SELP_ENST00000367786.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367792.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367788.2_Silent_p.P315P|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Silent_p.P315P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	377	Sushi 3.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.P377P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGGTTGGCAAGGGTGCAGACC	0.542000													33	155					2.46105e-21	3.0551e-21	0.750413	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	69					0	0	0.217242	0	0
PTGS2	5743	broad.mit.edu	37	1	186643668	186643668	+	Silent	SNP	G	G	A	rs139087930		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:186643668G>A	ENST00000367468.5	-	10	1768	c.1632C>T	c.(1630-1632)atC>atT	p.I544I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	544					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.I544I(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CAGTGTTGATGATTTGAAAAC	0.433000													46	152					0	0	0.859065	0	0
DCT	1638	broad.mit.edu	37	13	95114416	95114416	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:95114416G>T	ENST00000377028.5	-	5	1304	c.891C>A	c.(889-891)acC>acA	p.T297T	DCT_ENST00000446125.1_Silent_p.T297T|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	297					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.T297T(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CATTGCACAAGGTGACCAGGT	0.413000													13	63					4.36969e-10	4.9159e-10	0.435327	1	0
NEU2	4759	broad.mit.edu	37	2	233897387	233897387	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:233897387G>A	ENST00000233840.3	+	1	6	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	2							exo-alpha-sialidase activity	p.A2A(2)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCCCCATGGCGTCCCTTCCTG	0.617000													65	151					0	0	0.870114	0	0
SLFN12	55106	broad.mit.edu	37	17	33749265	33749265	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:33749265T>A	ENST00000394562.1	-	4	1306	c.783A>T	c.(781-783)gaA>gaT	p.E261D	SLFN12_ENST00000452764.3_Missense_Mutation_p.E261D|SLFN12_ENST00000304905.5_Missense_Mutation_p.E261D			Q8IYM2	SLN12_HUMAN	schlafen family member 12	261							ATP binding	p.E261D(2)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGATTTCTCTTTCTAAGTCAT	0.338000													29	73					0	0	0.769981	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741992	140741992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:140741992G>T	ENST00000522605.1	+	1	2290	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.E764*(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAGACAGAGTTCAATTT	0.498000													127	186					1.61085e-67	2.23041e-67	0.870114	1	0
DNMT3A	1788	broad.mit.edu	37	2	25459873	25459873	+	Splice_Site	SNP	G	G	A	rs35824014		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:25459873G>A	ENST00000264709.3	-	21	2747	c.2408_splice	c.e21-1	p.P804_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.P804_splice|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000402667.1_Splice_Site_p.P581_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.P615_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	804					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R803fs*5(3)|p.P804S(2)|p.P615S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGCCAACGGCCTAGGAGGC	0.582000			"""Mis, F, N, S"""		AML								13	29					0	0	0.435327	0	0
CACNA1E	777	broad.mit.edu	37	1	181708376	181708376	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:181708376G>T	ENST00000526775.1	+	24	3814	c.3649G>T	c.(3649-3651)Gcc>Tcc	p.A1217S	CACNA1E_ENST00000367567.4_Missense_Mutation_p.A843S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A1236S|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A1236S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A1187S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A1168S|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A1217S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1236					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A1236S(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCATTGGTGGCCTTTGCTCT	0.498000													147	182					8.66588e-61	1.19073e-60	0.870114	1	0
FARSB	10056	broad.mit.edu	37	2	223489197	223489197	+	Splice_Site	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:223489197C>G	ENST00000281828.6	-	12	1227	c.962_splice	c.e12-1	p.E322_splice	FARSB_ENST00000536361.1_Splice_Site_p.E223_splice	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	322	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.E322Q(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TCTGGAGTTTCTCTGAAAAAG	0.343000													12	23					0	0	0.387290	0	0
JRKL	8690	broad.mit.edu	37	11	96124962	96124962	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:96124962A>C	ENST00000458427.1	+	1	1805	c.1149A>C	c.(1147-1149)agA>agC	p.R383S	JRKL_ENST00000332349.4_Missense_Mutation_p.R383S|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	383	DDE.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.R383S(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		CCATTAGCAGAGCATGGAAGA	0.408000													7	167					0	0	0.278610	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	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	25					1.12685e-05	1.23679e-05	0.307466	1	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													4	102					0	0	0.150653	0	0
AKAP11	11215	broad.mit.edu	37	13	42876365	42876365	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:42876365G>T	ENST00000025301.2	+	8	3658	c.3483G>T	c.(3481-3483)gaG>gaT	p.E1161D		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1161					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.E1161D(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAAAAGAAGAGTTCATGTTGA	0.428000													33	77					7.63505e-26	9.88711e-26	0.760397	1	0
ECI1	1632	broad.mit.edu	37	16	2293439	2293439	+	Splice_Site	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:2293439C>T	ENST00000301729.4	-	5	490	c.441_splice	c.e5-1	p.G148_splice	ECI1_ENST00000562238.1_Splice_Site_p.G148_splice|ECI1_ENST00000570258.1_Splice_Site_p.G89_splice	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	148					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	p.G148E(2)		endometrium(1)|large_intestine(2)|lung(6)	9						GGGGCAGGCTCCCTGCAGGGA	0.652000													26	100					0	0	0.729181	0	0
PTCH1	5727	broad.mit.edu	37	9	98218671	98218671	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:98218671C>A	ENST00000430669.2	-	19	3580	c.2995G>T	c.(2995-2997)Gtc>Ttc	p.V999F	PTCH1_ENST00000375274.2_Missense_Mutation_p.V1064F|PTCH1_ENST00000418258.1_Missense_Mutation_p.V914F|PTCH1_ENST00000437951.1_Missense_Mutation_p.V999F|PTCH1_ENST00000421141.1_Missense_Mutation_p.V914F|PTCH1_ENST00000429896.2_Missense_Mutation_p.V914F|PTCH1_ENST00000331920.6_Missense_Mutation_p.V1065F			Q13635	PTC1_HUMAN	patched 1	1065					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1065F(4)|p.V1064F(4)|p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACAGCTCGACCGTCATCAGC	0.627000													15	34					2.31682e-05	2.51222e-05	0.479597	1	0
ANO7	50636	broad.mit.edu	37	2	242141661	242141661	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:242141661T>C	ENST00000274979.8	+	8	930	c.827T>C	c.(826-828)cTt>cCt	p.L276P	ANO7_ENST00000402430.3_Missense_Mutation_p.L275P	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	276						cell junction|chloride channel complex|cytosol	chloride channel activity	p.L276P(2)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAAAACCTGCTTGGGATCCAC	0.612000													34	85					0	0	0.819951	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425483	39425483	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr22:39425483C>A	ENST00000216099.7	+	5	1128	c.721C>A	c.(721-723)Cac>Aac	p.H241N	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.H241N	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	241					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TACAAAGCACCACTCAGCTGT	0.478000													4	82					0.00909568	0.00924984	0.150653	1	0
PLIN4	729359	broad.mit.edu	37	19	4512261	4512261	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:4512261C>G	ENST00000301286.3	-	3	1668	c.1669G>C	c.(1669-1671)Ggg>Cgg	p.G557R		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	557	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G557R(2)|p.G485R(2)		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						CCCGTGAGCCCAGTGGACATC	0.612000													89	193					0	0	0.870114	0	0
C17orf70	80233	broad.mit.edu	37	17	79517503	79517503	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:79517503C>T	ENST00000537152.1	-	3	1089	c.564G>A	c.(562-564)cgG>cgA	p.R188R	C17orf70_ENST00000327787.8_Silent_p.R339R	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	339					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.R339R(1)|p.R188R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGCAGTACTCCCGCAGCTCGG	0.657000													32	73					0	0	0.812448	0	0
LOC645752	645752	broad.mit.edu	37	15	78212571	78212571	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:78212571G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCTGTGTCACGTGTGCGTTCA	0.572000													4	33					0	0	0.278610	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209953826	209953826	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:209953826C>T	ENST00000367024.1	+	15	1840	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P422S|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P442S|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P422S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	442						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCAGGCTTTGCCCGTGTGGAG	0.537000													5	322					0	0	0.248553	0	0
ACPP	55	broad.mit.edu	37	3	132075715	132075715	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:132075715C>T	ENST00000336375.5	+	10	1244	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	ACPP_ENST00000475741.1_Missense_Mutation_p.T352I|ACPP_ENST00000351273.7_Intron	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	385						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.T385I(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAAGACAGTACAGATTAGTGT	0.502000													30	66					0	0	0.740014	0	0
PCDH15	65217	broad.mit.edu	37	10	55996691	55996691	+	Splice_Site	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:55996691C>A	ENST00000373965.2	-	9	1271	c.876_splice	c.e9-1	p.E293_splice	PCDH15_ENST00000395446.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395445.1_Splice_Site_p.E293_splice|PCDH15_ENST00000373955.1_Splice_Site_p.E293_splice|PCDH15_ENST00000414778.1_Splice_Site_p.E298_splice|PCDH15_ENST00000373957.3_Splice_Site_p.E271_splice|PCDH15_ENST00000395432.2_Splice_Site_p.E256_splice|PCDH15_ENST00000395440.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395438.1_Splice_Site_p.E293_splice|PCDH15_ENST00000395430.1_Splice_Site_p.E293_splice|PCDH15_ENST00000361849.3_Splice_Site_p.E293_splice|PCDH15_ENST00000395442.1_Splice_Site_p.E293_splice|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000320301.6_Splice_Site_p.E293_splice|PCDH15_ENST00000395433.1_Splice_Site_p.E271_splice|PCDH15_ENST00000437009.1_Splice_Site_p.E293_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	293	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E293*(4)|p.E298*(4)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCAGTTCTTCCTGAAAAAAA	0.398000										HNSCC(58;0.16)			37	90					4.65686e-17	5.62574e-17	0.788014	1	0
C8A	731	broad.mit.edu	37	1	57349288	57349288	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:57349288G>T	ENST00000361249.3	+	6	885	c.789G>T	c.(787-789)gtG>gtT	p.V263V		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	263	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.V263V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTTTATTGGTGGGTGTAGGTG	0.403000													19	54					2.89027e-11	3.31368e-11	0.624587	1	0
REG1B	5968	broad.mit.edu	37	2	79314691	79314691	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:79314691G>C	ENST00000305089.3	-	2	128	c.48C>G	c.(46-48)ttC>ttG	p.F16L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	16					cell proliferation	extracellular region	sugar binding	p.F16L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TCAGAGACAGGAACATCAGGG	0.473000													13	44					0	0	0.435327	0	0
LRRN2	10446	broad.mit.edu	37	1	204589053	204589053	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:204589053A>G	ENST00000367175.1	-	1	2280	c.68T>C	c.(67-69)gTa>gCa	p.V23A	LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Missense_Mutation_p.V23A|LRRN2_ENST00000367177.3_Missense_Mutation_p.V23A			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	23	LRRNT.				cell adhesion	integral to membrane	receptor activity	p.V23A(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGCCAGGGTACCACGGGCAC	0.647000													15	25					0	0	0.479597	0	0
PCDH9	5101	broad.mit.edu	37	13	67799512	67799512	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:67799512T>C	ENST00000377861.3	-	2	3747	c.3061A>G	c.(3061-3063)Ata>Gta	p.I1021V	PCDH9_ENST00000456367.1_Intron|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000544246.1_Intron|PCDH9_ENST00000377865.2_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAGTACTTATAGACCAGTAA	0.423000													38	68					0	0	0.847076	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764617	109764617	+	RNA	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrX:109764617G>A	ENST00000602699.1	+	0	1078					NR_002718.2																						CTGAATGGGGGAACCTGCATG	0.577000													11	80					0	0	0.361761	0	0
OR52I1	390037	broad.mit.edu	37	11	4615507	4615507	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:4615507C>T	ENST00000450052.2	+	2	311	c.311C>T	c.(310-312)tCc>tTc	p.S104F	OR52I1_ENST00000530443.2_Missense_Mutation_p.S80F			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S105F(2)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCTCCTCCGTGGTACCC	0.502000													58	144					0	0	0.870114	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:141543453G>T	ENST00000442267.2	-	21	3771	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1233						intracellular	calcium ion binding|Rab GTPase activator activity	p.P1233T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592000													8	76					0.000157383	0.00016281	0.278610	1	0
SCIN	85477	broad.mit.edu	37	7	12668762	12668762	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:12668762G>A	ENST00000297029.5	+	9	1335	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	SCIN_ENST00000445618.2_Missense_Mutation_p.D165N|SCIN_ENST00000519209.1_Missense_Mutation_p.D165N	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	412	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	p.D412N(4)		endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GATCCAAGTTGACCAAAACTC	0.368000													16	59					0	0	0.500413	0	0
VPS53	55275	broad.mit.edu	37	17	534814	534814	+	Missense_Mutation	SNP	T	T	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:534814T>A	ENST00000437048.2	-	8	809	c.663A>T	c.(661-663)gaA>gaT	p.E221D	VPS53_ENST00000446250.2_Missense_Mutation_p.E23D|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000571805.1_Missense_Mutation_p.E221D|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E192D	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	221					protein transport	endosome membrane|Golgi apparatus		p.E192D(2)|p.E221D(2)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AAGGAAACGCTTCTTCAAAAT	0.498000													30	74					0	0	0.769981	0	0
FAM188A	80013	broad.mit.edu	37	10	15902236	15902236	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:15902236G>A	ENST00000277632.3	-	1	283	c.63C>T	c.(61-63)ctC>ctT	p.L21L	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	21					apoptosis	nucleus	calcium ion binding	p.L21L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGGTGTCCGAGAGACCGGGGC	0.617000													4	22					0	0	0.150653	0	0
CHKB-CPT1B	386593	broad.mit.edu	37	22	51018161	51018161	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr22:51018161G>A	ENST00000453634.1	-	1	20	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CHKB-CPT1B_ENST00000452668.1_Intron|CHKB_ENST00000406938.2_Silent_p.V342V														p.V342V(2)									CTCACCGACTGACTTCTACCA	0.522000													42	113					0	0	0.840704	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	56					0	0	0.184627	0	0
MYO16	23026	broad.mit.edu	37	13	109777480	109777480	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:109777480C>A	ENST00000356711.2	+	30	3616	c.3490C>A	c.(3490-3492)Cgc>Agc	p.R1164S	MYO16_ENST00000357550.2_Missense_Mutation_p.R1164S|MYO16_ENST00000457511.2_Missense_Mutation_p.R676S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1164	IQ.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.R1164S(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATTTTTAGCACGCCAGCACCT	0.393000													10	38					3.86212e-05	4.1135e-05	0.361761	1	0
LZTS1	11178	broad.mit.edu	37	8	20110503	20110503	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr8:20110503G>A	ENST00000381569.1	-	3	1296	c.939C>T	c.(937-939)ggC>ggT	p.G313G	LZTS1_ENST00000522290.1_Silent_p.G313G|LZTS1_ENST00000265801.6_Silent_p.G313G			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	313					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G313G(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTTGTTGCCGCCTTTGGGCT	0.682000													36	84					0	0	0.796494	0	0
TMEM99	147184	broad.mit.edu	37	17	38991095	38991095	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:38991095C>T	ENST00000301665.3	+	3	631	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	109						integral to membrane		p.F109F(2)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTTGCTCTTCAACAACTGGA	0.493000													54	106					0	0	0.870114	0	0
TAOK2	9344	broad.mit.edu	37	16	29997963	29997963	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:29997963C>T	ENST00000308893.4	+	16	3413	c.2370C>T	c.(2368-2370)ggC>ggT	p.G790G	TAOK2_ENST00000416441.2_Silent_p.G617G|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	790					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.G790G(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAATGCTTGGCGAGGAGGAGG	0.597000													55	146					0	0	0.870114	0	0
ISL1	3670	broad.mit.edu	37	5	50683505	50683505	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:50683505G>A	ENST00000230658.7	+	3	985	c.400G>A	c.(400-402)Gat>Aat	p.D134N	ISL1_ENST00000511384.1_Missense_Mutation_p.D134N|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	134					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D134N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				AGCAGACCACGATGTGGTGGA	0.652000													22	115					0	0	0.639603	0	0
OR52N4	390072	broad.mit.edu	37	11	5776193	5776193	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:5776193A>T	ENST00000317254.3	+	1	271	c.223A>T	c.(223-225)Atg>Ttg	p.M75L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M75L(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TGACCTTGTTATGTGCTCTAG	0.458000													34	60					0	0	0.779181	0	0
SPG11	80208	broad.mit.edu	37	15	44865727	44865727	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:44865727C>A	ENST00000558319.1	-	32	6253	c.6223G>T	c.(6223-6225)Gat>Tat	p.D2075Y	SPG11_ENST00000261866.7_Intron|SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Intron			Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	0					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GGTTGGGAATCCCCGGGGGGT	0.502000													16	50					3.41278e-10	3.86353e-10	0.520397	1	0
TXNDC15	79770	broad.mit.edu	37	5	134235280	134235280	+	Missense_Mutation	SNP	T	T	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:134235280T>G	ENST00000358387.4	+	5	1613	c.988T>G	c.(988-990)Tta>Gta	p.L330V	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L307V	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	330					cell redox homeostasis	integral to membrane		p.L330V(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTATTTTCCTTATTCTTTTT	0.403000													81	107					0	0	0.870114	0	0
MT-CO2	4513	broad.mit.edu	37	MT	7776	7776	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrM:7776T>C	ENST00000361739.1	+	1	191	c.191T>C	c.(190-192)gTc>gCc	p.V64A						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AATAGAAACCGTCTGAACTAT	0.463000													58	60					0	0	0.870114	0	0
GREB1	9687	broad.mit.edu	37	2	11720872	11720872	+	Missense_Mutation	SNP	C	C	T	rs148901217		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:11720872C>T	ENST00000381486.2	+	7	1115	c.815C>T	c.(814-816)cCg>cTg	p.P272L	GREB1_ENST00000381483.2_Missense_Mutation_p.P272L|GREB1_ENST00000234142.5_Missense_Mutation_p.P272L|GREB1_ENST00000263834.5_Missense_Mutation_p.P272L|GREB1_ENST00000389825.3_Missense_Mutation_p.P162L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	272						integral to membrane		p.P272L(6)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCAATGGGTCCGGCTGTTTTC	0.532000													52	104					0	0	0.870114	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166644	161166644	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:161166644C>T	ENST00000367996.4	-	2	1088	c.660G>A	c.(658-660)gtG>gtA	p.V220V	ADAMTS4_ENST00000367995.3_Silent_p.V220V	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	220	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.V220V(4)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCAGTGTCTCCACAAATCTAC	0.537000													220	280					0	0	0.870114	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178691	57178691	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:57178691C>G	ENST00000554643.1	+	5	976	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HSD17B6_ENST00000555805.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000554150.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000322165.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555159.1_Missense_Mutation_p.F209L			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	209					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	p.F209L(3)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	CTGGCTACTTCAGAACGGGAA	0.423000													67	139					0	0	0.870114	0	0
OR10G9	219870	broad.mit.edu	37	11	123894107	123894107	+	Missense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:123894107A>T	ENST00000375024.1	+	1	388	c.388A>T	c.(388-390)Agg>Tgg	p.R130W		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		TTACCCGCTCAGGTACACCAG	0.537000													71	122					0	0	0.870114	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													6	164					0	0	0.278610	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	75					0	0	0.184627	0	0
USH2A	7399	broad.mit.edu	37	1	215807951	215807951	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:215807951C>T	ENST00000366943.2	-	70	15533	c.15147G>A	c.(15145-15147)atG>atA	p.M5049I	USH2A_ENST00000307340.3_Missense_Mutation_p.M5049I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5049					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.M5049I(2)		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)		TCAAGCCCAGCATCGCCATTA	0.463000										HNSCC(13;0.011)			42	173					0	0	0.827153	0	0
RBAK	57786	broad.mit.edu	37	7	5105125	5105125	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:5105125G>T	ENST00000396912.1	+	5	2557	c.2038G>T	c.(2038-2040)Gaa>Taa	p.E680*	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Nonsense_Mutation_p.E680*	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	680	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E680*(2)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAAACCCTATGAATGTAACGA	0.388000													45	96					6.4771e-29	8.51006e-29	0.853193	1	0
CNTLN	54875	broad.mit.edu	37	9	17466001	17466001	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:17466001G>T	ENST00000380647.3	+	22	3638	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	CNTLN_ENST00000262360.5_Missense_Mutation_p.C1185F|CNTLN_ENST00000425824.1_Missense_Mutation_p.C1185F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1185						centriole|membrane	two-component sensor activity	p.C1185F(2)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ACTGAAGAATGTTCCAACAAG	0.308000													7	18					5.18039e-06	5.72068e-06	0.278610	1	0
XYLB	9942	broad.mit.edu	37	3	38454427	38454427	+	Splice_Site	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:38454427G>T	ENST00000207870.3	+	19	1624	c.1533_splice	c.e19-1	p.V512_splice	XYLB_ENST00000472721.1_Intron|XYLB_ENST00000542835.1_Splice_Site_p.V375_splice	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	512					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	p.V512F(2)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCCCTTCTAGGTCTACGAGGC	0.498000													42	107					7.53189e-24	9.61518e-24	0.834066	1	0
DPP10	57628	broad.mit.edu	37	2	116497337	116497337	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:116497337C>G	ENST00000410059.1	+	9	1200	c.720C>G	c.(718-720)atC>atG	p.I240M	DPP10_ENST00000310323.8_Missense_Mutation_p.I233M|DPP10_ENST00000409163.1_Missense_Mutation_p.I190M|DPP10_ENST00000393147.2_Missense_Mutation_p.I244M|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	240					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.I233M(2)|p.I240M(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTCTCACATCGCCCACTGGT	0.463000													38	86					0	0	0.804634	0	0
ARID2	196528	broad.mit.edu	37	12	46244361	46244361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:46244361C>T	ENST00000334344.6	+	15	2627	c.2455C>T	c.(2455-2457)Caa>Taa	p.Q819*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q429*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q670*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	819	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q819*(3)		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)		TTCACAGGGTCAACAGTTAAT	0.453000			"""N, S, F"""		hepatocellular carcinoma								18	28					0	0	0.539581	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777759	43777759	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:43777759C>T	ENST00000389420.3	-	30	4473	c.4474G>A	c.(4474-4476)Gga>Aga	p.G1492R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1492	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.G1492R(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGCTGAACTCCAGAGCCACAG	0.438000													16	41					0	0	0.539581	0	0
IL1R2	7850	broad.mit.edu	37	2	102641036	102641036	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:102641036G>A	ENST00000332549.3	+	7	1022	c.793G>A	c.(793-795)Ggc>Agc	p.G265S	IL1R2_ENST00000393414.2_Missense_Mutation_p.G265S|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000441002.1_Missense_Mutation_p.G265S	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	265	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.G265S(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TCTGGGAACCGGCACACCCTT	0.607000													27	58					0	0	0.693898	0	0
ANK3	288	broad.mit.edu	37	10	61844435	61844435	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:61844435C>T	ENST00000280772.1	-	32	4190	c.3999G>A	c.(3997-3999)atG>atA	p.M1333I	ANK3_ENST00000373827.2_Missense_Mutation_p.M1327I|ANK3_ENST00000355288.2_Missense_Mutation_p.M467I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1334I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1333					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M1333I(1)|p.M968I(1)|p.M467I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTCATCTGTCATGCAGAAAC	0.373000													9	156					0	0	0.307466	0	0
TRIM36	55521	broad.mit.edu	37	5	114466398	114466398	+	Missense_Mutation	SNP	A	A	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:114466398A>C	ENST00000513154.1	-	9	2013	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	TRIM36_ENST00000282369.3_Missense_Mutation_p.F575V|TRIM36_ENST00000514154.1_Missense_Mutation_p.F420V			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	575	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.F575V(2)		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)		AAGGCCCAGAAGTGTTTTCCT	0.448000													36	139					0	0	0.796494	0	0
AFAP1	60312	broad.mit.edu	37	4	7787976	7787976	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:7787976G>A	ENST00000420658.1	-	12	1747	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	492						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						GCTGGGGTGGGCATAGCCGTT	0.493000													5	214					0	0	0.217242	0	0
NLRP5	126206	broad.mit.edu	37	19	56539676	56539676	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:56539676G>A	ENST00000390649.3	+	7	2077	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	693						mitochondrion|nucleolus	ATP binding	p.E693K(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCTTTTCGAGACTCAAGA	0.517000													82	160					0	0	0.870114	0	0
LRP12	29967	broad.mit.edu	37	8	105509951	105509951	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr8:105509951C>G	ENST00000276654.5	-	5	937	c.829G>C	c.(829-831)Gac>Cac	p.D277H	LRP12_ENST00000424843.2_Missense_Mutation_p.D258H	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	277	CUB 2.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.D277H(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGATAAAAGTCTGGATAATTG	0.403000													10	60					0	0	0.411799	0	0
TTN	7273	broad.mit.edu	37	2	179407873	179407873	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:179407873C>T	ENST00000589042.1	-	347	97051	c.96827G>A	c.(96826-96828)aGa>aAa	p.R32276K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23336K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29708K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R23403K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R30635K|TTN_ENST00000460472.2_Missense_Mutation_p.R23211K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30635	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R29708K(2)|p.R23336K(2)|p.R23211K(2)|p.R23403K(2)|p.R29706K(2)|p.R29706T(1)|p.R23403T(1)|p.R23211T(1)|p.R29708T(1)|p.R23336T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCCTTATTCTAAATAAGTA	0.418000													55	218					0	0	0.870114	0	0
KEAP1	9817	broad.mit.edu	37	19	10600510	10600510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:10600510C>A	ENST00000171111.5	-	4	1892	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.E449*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.E449*(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AAGTGCCACTCATCCCGCTCT	0.537000													18	14					9.7654e-05	0.000102196	0.557998	1	0
NSDHL	50814	broad.mit.edu	37	X	152027454	152027454	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrX:152027454G>T	ENST00000370274.3	+	4	602	c.408G>T	c.(406-408)ggG>ggT	p.G136G	NSDHL_ENST00000440023.1_Silent_p.G136G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	136					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	p.G136G(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AAGAGGCTGGGGTTCAGGTAA	0.517000													32	35					2.08457e-15	2.48492e-15	0.750413	1	0
CARS	833	broad.mit.edu	37	11	3041474	3041474	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:3041474C>A	ENST00000397114.3	-	11	1339	c.963G>T	c.(961-963)ccG>ccT	p.P321P	CARS_ENST00000278224.9_Silent_p.P331P|CARS_ENST00000397111.5_Silent_p.P331P|CARS_ENST00000401769.3_Silent_p.P344P|CARS_ENST00000380525.4_Silent_p.P414P			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	331					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	p.P331P(2)|p.P414P(2)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ACGGCCAGGACGGTTCTCCGG	0.622000			T	ALK	ALCL								47	178					2.47907e-22	3.1205e-22	0.870114	1	0
CASC5	57082	broad.mit.edu	37	15	40917231	40917231	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:40917231G>T	ENST00000346991.5	+	11	5237	c.4847G>T	c.(4846-4848)gGa>gTa	p.G1616V	CASC5_ENST00000399668.2_Missense_Mutation_p.G1590V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTTGAATTAGGAAATAAGGCA	0.333000													15	62					0.000422831	0.000432441	0.500413	1	0
SULT1C3	442038	broad.mit.edu	37	2	108881397	108881397	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:108881397G>T	ENST00000329106.2	+	6	738	c.738G>T	c.(736-738)atG>atT	p.M246I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	246						cytoplasm	alcohol sulfotransferase activity	p.M246I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAACCCAATGACCAACTATA	0.383000													41	85					1.03325e-14	1.21558e-14	0.859065	1	0
SDAD1	55153	broad.mit.edu	37	4	76898821	76898821	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:76898821C>A	ENST00000356260.5	-	4	501	c.383G>T	c.(382-384)tGc>tTc	p.C128F	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	128					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.C128F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTATCATGGCAACGAAAAAG	0.383000													16	73					6.94344e-10	7.76286e-10	0.539581	1	0
ABCG4	64137	broad.mit.edu	37	11	119024780	119024780	+	Silent	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:119024780C>A	ENST00000307417.3	+	3	647	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	ABCG4_ENST00000449422.2_Silent_p.R95R|ABCG4_ENST00000531739.1_Silent_p.R95R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	95	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.R95R(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATTCTGCCGCCGGGAGCTGAT	0.532000													41	109					1.96642e-18	2.42435e-18	0.827153	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	66					0	0	0.217242	0	0
BNC1	646	broad.mit.edu	37	15	83932641	83932641	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:83932641G>A	ENST00000345382.2	-	4	1447	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.P447P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	454					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P454P(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAGGGTAGCTGGGAGGAGGCC	0.547000													40	100					0	0	0.804634	0	0
LRP1B	53353	broad.mit.edu	37	2	141946049	141946049	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:141946049G>T	ENST00000389484.3	-	7	1925	c.954C>A	c.(952-954)gtC>gtA	p.V318V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	318					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V318V(2)		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)		CAATCAGGGTGACACATACAG	0.413000										TSP Lung(27;0.18)			22	40					1.28384e-07	1.42649e-07	0.608945	1	0
ZNF770	54989	broad.mit.edu	37	15	35274816	35274816	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:35274816C>T	ENST00000356321.4	-	3	1164	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E274K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCACCAATCTCACCATTTTCA	0.388000													10	49					0	0	0.335167	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109766	54109766	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:54109766C>T	ENST00000548263.1	-	9	1119	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	CALCOCO1_ENST00000262059.4_Silent_p.Q357Q|CALCOCO1_ENST00000550804.1_Silent_p.Q357Q|CALCOCO1_ENST00000430117.2_Silent_p.Q272Q			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	357					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.Q357Q(2)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGTGGCTTTCTGCTGGCTTG	0.612000													29	28					0	0	0.779181	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107634	114107634	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:114107634G>A	ENST00000375418.3	-	1	205	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	40					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.S40F(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CAGGCCCCCGGAACGTTGCAG	0.597000													23	106					0	0	0.654019	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013156	73013156	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:73013156C>T	ENST00000308744.6	+	4	1294	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S300L|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S297L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	399					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	p.S399L(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATGATGCTCTCAGACTACGCT	0.483000													23	69					0	0	0.624587	0	0
OR1M1	125963	broad.mit.edu	37	19	9203982	9203982	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:9203982C>A	ENST00000429566.3	+	1	128	c.62C>A	c.(61-63)cCa>cAa	p.P21Q		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21Q(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCAGAAAAGCCAGAGCAGGAG	0.507000													54	23					2.12129e-23	2.68895e-23	0.870114	1	0
GLI3	2737	broad.mit.edu	37	7	42012056	42012056	+	Missense_Mutation	SNP	C	C	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:42012056C>G	ENST00000395925.3	-	13	2067	c.1983G>C	c.(1981-1983)caG>caC	p.Q661H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	661					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	p.Q661H(2)		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						GCGACCTGGACTGTGAATGGC	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				48	134					0	0	0.870114	0	0
TGFBR3	7049	broad.mit.edu	37	1	92187533	92187533	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:92187533G>A	ENST00000212355.4	-	8	1519	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	TGFBR3_ENST00000525962.1_Missense_Mutation_p.H352Y|TGFBR3_ENST00000370399.2_Missense_Mutation_p.H352Y	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	352					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGCCGAAGATGAAATCTATTA	0.388000													4	39					0	0	0.184627	0	0
SPPL2A	84888	broad.mit.edu	37	15	51032016	51032016	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:51032016C>T	ENST00000261854.5	-	6	868	c.594G>A	c.(592-594)ttG>ttA	p.L198L		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	198						integral to membrane	aspartic-type endopeptidase activity	p.L198L(4)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCACTGCTTTCAAGTTTTCCC	0.323000													9	29					0	0	0.335167	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	209					0	0	0.150653	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142806254	142806254	+	RNA	SNP	A	A	G	rs114813183	by1000genomes	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:142806254A>G	ENST00000423385.1	-	0	88																											CATTTTGCATAAACTGTGTGT	0.353000													3	26					0	0	0.184627	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779054	156779054	+	Missense_Mutation	SNP	C	C	T	rs147765972		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:156779054C>T	ENST00000392306.2	-	7	1112	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.A297T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.A315T	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	315	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.A325T(2)|p.A315T(2)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAAGGGTGGCGGGTAGGCCC	0.597000													119	419					0	0	0.870114	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343128	69343128	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:69343128C>T	ENST00000305363.4	+	8	813	c.749C>T	c.(748-750)aCa>aTa	p.T250I		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	250	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T250I(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368000													91	170					0	0	0.870114	0	0
KY	339855	broad.mit.edu	37	3	134322838	134322838	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr3:134322838C>T	ENST00000508956.1	-	10	1563	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.L523L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	523						cytoskeleton|Z disc	peptidase activity	p.L523L(4)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTGGACTTTCAGCTCGGTCT	0.527000													19	67					0	0	0.624587	0	0
C16orf90	646174	broad.mit.edu	37	16	3544576	3544576	+	Silent	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:3544576G>A	ENST00000437192.3	-	2	350	c.348C>T	c.(346-348)ctC>ctT	p.L116L	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	106										large_intestine(1)	1						GGGCTGAACAGAGGCTGTTAC	0.672000													14	40					0	0	0.624587	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	67					0	0	0.184627	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526072	176526072	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:176526072G>C	ENST00000367662.3	+	2	1778	c.614G>C	c.(613-615)cGg>cCg	p.R205P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	205					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R205P(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAGAGGCGGGCGGAAGAT	0.562000													139	142					0	0	0.870114	0	0
ZNF304	57343	broad.mit.edu	37	19	57868090	57868090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:57868090G>T	ENST00000391705.3	+	4	1137	c.853G>T	c.(853-855)Gga>Tga	p.G285*	ZNF304_ENST00000598744.1_Nonsense_Mutation_p.G243*|ZNF304_ENST00000282286.5_Nonsense_Mutation_p.G285*|ZNF304_ENST00000443917.2_Nonsense_Mutation_p.G332*	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G285*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TAAGGAGTGTGGAAAAGCCTT	0.418000													23	64					2.32416e-17	2.82668e-17	0.624587	1	0
MIPEP	4285	broad.mit.edu	37	13	24444289	24444289	+	Missense_Mutation	SNP	T	T	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:24444289T>C	ENST00000382172.3	-	6	747	c.649A>G	c.(649-651)Agt>Ggt	p.S217G		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	217					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.S217G(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGAAATGTACTACTCAAATCC	0.363000													20	41					0	0	0.575678	0	0
MRPL22	29093	broad.mit.edu	37	5	154320812	154320812	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:154320812A>G	ENST00000523037.1	+	2	105	c.64A>G	c.(64-66)Aag>Gag	p.K22E	MRPL22_ENST00000439747.3_Missense_Mutation_p.K48E|MRPL22_ENST00000522038.1_Missense_Mutation_p.K22E|MRPL22_ENST00000265229.8_5'UTR	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	22					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.K22E(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCCGGGGGAAGCTGGCCTT	0.537000													13	110					0	0	0.457914	0	0
SPTA1	6708	broad.mit.edu	37	1	158590009	158590009	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:158590009G>T	ENST00000368148.3	-	44	6548	c.6368C>A	c.(6367-6369)aCa>aAa	p.T2123K	SPTA1_ENST00000368147.3_Missense_Mutation_p.T2120K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2123					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	p.T2123K(2)		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)					CACCTCCACTGTTAACCAGGT	0.498000													85	98					2.22156e-40	3.0294e-40	0.870114	1	0
TFAP2A	7020	broad.mit.edu	37	6	10398887	10398887	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr6:10398887C>T	ENST00000379613.3	-	7	1339	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	TFAP2A_ENST00000379604.2_Silent_p.L359L|TFAP2A_ENST00000379608.3_Silent_p.L353L|TFAP2A_ENST00000482890.1_Silent_p.L359L|TFAP2A_ENST00000319516.4_Silent_p.L355L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	359	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.L353L(1)|p.L359L(1)|p.L355L(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTGAGTTCCCCAGGGGAGATC	0.607000													33	509					0	0	0.804634	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430689	37430689	+	Silent	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:37430689G>T	ENST00000374660.1	+	7	795	c.696G>T	c.(694-696)gcG>gcT	p.A232A	ANKRD30A_ENST00000602533.1_Silent_p.A232A|ANKRD30A_ENST00000361713.1_Silent_p.A232A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232A(1)		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						CACCCTTGGCGGAAAGAACAC	0.483000													10	36					0.00010058	0.00010465	0.411799	1	0
DEFB116	245930	broad.mit.edu	37	20	29891023	29891023	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr20:29891023G>T	ENST00000400549.1	-	2	300	c.301C>A	c.(301-303)Cac>Aac	p.H101N		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	101					defense response to bacterium	extracellular region		p.H101N(2)		kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCAAATGTGAGAGTAGCTT	0.378000													31	100					1.62565e-12	1.88785e-12	0.760397	1	0
CYP17A1	1586	broad.mit.edu	37	10	104594740	104594740	+	Missense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:104594740C>A	ENST00000369887.3	-	3	639	c.468G>T	c.(466-468)atG>atT	p.M156I	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	156					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.M156I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GGGTGGCCAGCATATCACACA	0.502000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	123					5.04308e-16	6.05169e-16	0.819951	1	0
DLD	1738	broad.mit.edu	37	7	107558381	107558381	+	Missense_Mutation	SNP	A	A	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr7:107558381A>G	ENST00000205402.5	+	12	1530	c.1249A>G	c.(1249-1251)Aaa>Gaa	p.K417E	DLD_ENST00000440410.1_Missense_Mutation_p.K394E|DLD_ENST00000437604.2_Missense_Mutation_p.K369E|DLD_ENST00000537148.1_Missense_Mutation_p.K318E	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	417					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	p.K417E(4)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TATTGAGTACAAAGTTGGGAA	0.393000													30	58					0	0	0.760397	0	0
CASC5	57082	broad.mit.edu	37	15	40917230	40917230	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:40917230G>T	ENST00000346991.5	+	11	5236	c.4846G>T	c.(4846-4848)Gga>Tga	p.G1616*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.G1590*			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1616					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.G1616L(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACTTGAATTAGGAAATAAGGC	0.333000													15	63					0.000422831	0.000432441	0.500413	1	0
OR5B3	441608	broad.mit.edu	37	11	58170746	58170746	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:58170746A>T	ENST00000309403.2	-	1	136	c.137T>A	c.(136-138)tTg>tAg	p.L46*		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L46*(2)|p.L46W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGAATATCAATACAATAAT	0.423000													45	96					0	0	0.853193	0	0
MUC6	4588	broad.mit.edu	37	11	1018143	1018143	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:1018143C>T	ENST00000421673.2	-	31	4708	c.4658G>A	c.(4657-4659)cGc>cAc	p.R1553H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1553	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.R1553H(4)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTTCTGGTGCGTGTACTAGT	0.562000													75	265					0	0	0.870114	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051323	38051323	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr4:38051323G>A	ENST00000261439.4	+	11	2069	c.1714G>A	c.(1714-1716)Gac>Aac	p.D572N	TBC1D1_ENST00000508802.1_Missense_Mutation_p.D572N	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	572						nucleus	Rab GTPase activator activity	p.D572N(3)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCTGTCCAGTGACTCGGAGAG	0.592000													50	158					0	0	0.870114	0	0
OR2W3	343171	broad.mit.edu	37	1	248059823	248059823	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:248059823G>T	ENST00000537741.1	+	3	1192	c.935G>T	c.(934-936)gGa>gTa	p.G312V	OR2W3_ENST00000360358.3_Missense_Mutation_p.G312V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G312V(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAGAGCTAGGAAAGGAGTAA	0.537000													40	43					2.19489e-29	2.905e-29	0.819951	1	0
ZNF770	54989	broad.mit.edu	37	15	35274098	35274098	+	Missense_Mutation	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:35274098C>T	ENST00000356321.4	-	3	1882	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R513K(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGCTGACTGTCTAAAAGATTT	0.348000													21	54					0	0	0.592651	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129181	26129181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:26129181C>A	ENST00000381655.2	+	13	1380	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.S373*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	373					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S413*(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCCAGGACATCAAACCTTAAT	0.428000													36	78					1.59361e-14	1.86266e-14	0.827153	1	0
ZNF561	93134	broad.mit.edu	37	19	9727819	9727819	+	Missense_Mutation	SNP	A	A	C	rs138478771		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:9727819A>C	ENST00000302851.3	-	4	506	c.143T>G	c.(142-144)gTg>gGg	p.V48G	ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000326044.5_Missense_Mutation_p.V48G|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTGAAGTCCACAGCCACATC	0.468000													7	29					0	0	0.435327	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435599	104435599	+	RNA	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:104435599G>T	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							CCTGGTGCAGGGACGGCAGCG	0.458000													14	19					1.02788e-11	1.18602e-11	0.520397	1	0
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592000													6	213					0	0	0.335167	0	0
HLX	3142	broad.mit.edu	37	1	221055574	221055574	+	Missense_Mutation	SNP	G	G	T			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:221055574G>T	ENST00000366903.6	+	3	2342	c.841G>T	c.(841-843)Gct>Tct	p.A281S	HLX_ENST00000549319.1_Missense_Mutation_p.A67S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	281					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A281S(2)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ATGGTCGCGCGCTGTGTTCTC	0.577000													35	68					9.17885e-22	1.14736e-21	0.779181	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136291428	136291428	+	Missense_Mutation	SNP	G	G	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:136291428G>C	ENST00000371929.3	+	6	1093	c.649G>C	c.(649-651)Gac>Cac	p.D217H	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.D217H|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.D217H|ADAMTS13_ENST00000371916.1_Missense_Mutation_p.D217H	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	217	Peptidase M12B.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.D217H(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CACTGGCTTCGACCTGGGAGT	0.637000													29	94					0	0	0.729181	0	0
C1orf116	79098	broad.mit.edu	37	1	207200842	207200842	+	Silent	SNP	T	T	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:207200842T>A	ENST00000359470.5	-	2	351	c.102A>T	c.(100-102)ggA>ggT	p.G34G	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	34						cytoplasm|plasma membrane	receptor activity	p.G34G(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TACGTACAGATCCAGAGCGGG	0.637000													39	157					0	0	0.812448	0	0
RAB31	11031	broad.mit.edu	37	18	9814045	9814045	+	Missense_Mutation	SNP	G	G	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr18:9814045G>A	ENST00000578921.1	+	4	471	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R77Q(2)		breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						ATGTACTATCGAGGCTCAGCT	0.378000													5	5					0	0	0.217242	0	0
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													7	664	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs6667693	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:26608843_26608844insGGGACA	ENST00000314675.7	-	11	1228_1229	c.1149_1150insTGTCCC	c.(1147-1152)ccgtcc>ccTGTCCCgtcc	p.382_383insPV	UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	502						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733													2	4	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1098)accfs	p.T366fs	RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673													7	100	---	---	---	---					
MROH7	374977	broad.mit.edu	37	1	55118669	55118670	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:55118669_55118670insG	ENST00000414150.2	+	3	348_349	c.70_71insG	c.(70-72)tggfs	p.W24fs	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Frame_Shift_Ins_p.W24fs|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Frame_Shift_Ins_p.W24fs|MROH7_ENST00000395690.2_Frame_Shift_Ins_p.W24fs|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		TCCCCCCTCCTGTGGGGCCCCG	0.594													8	155	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													21	297	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								12	236	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													24	448	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													18	444	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													9	222	---	---	---	---					
SPAG17	200162	broad.mit.edu	37	1	118584454	118584455	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:118584454_118584455insG	ENST00000336338.5	-	21	3090_3091	c.3025_3026insC	c.(3025-3027)ccafs	p.P1009fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1009						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCTGGTTGGTGGGGGGACTCT	0.371													13	787	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													15	637	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145561840	145561841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:145561840_145561841insG	ENST00000355594.4	+	10	1615_1616	c.1528_1529insG	c.(1528-1530)gggfs	p.G510fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	510								p.R510R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGCTGCCCGGGGGGCTTTG	0.629													12	456	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145578384	145578385	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:145578384_145578385insC	ENST00000393045.2	+	2	437_438	c.347_348insC	c.(346-348)cccfs	p.P116fs	PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Frame_Shift_Ins_p.P107fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	116	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGACATGCACCCCCCTCTGC	0.629													14	621	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													9	734	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													9	404	---	---	---	---					
LCE2D	353141	broad.mit.edu	37	1	152636665	152636666	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:152636665_152636666insC	ENST00000368784.1	+	2	139_140	c.84_85insC	c.(82-87)tgccccfs	p.CP28fs		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	28	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCTAAGTGTCCCCCCAAATG	0.594													8	294	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													7	703	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159900127	159900128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:159900127_159900128insC	ENST00000368094.1	-	15	2112_2113	c.1915_1916insG	c.(1915-1917)actfs	p.T639fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.T623fs|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	639	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGCAGGAGTACCCCCCGGGGT	0.673													7	586	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													7	390	---	---	---	---					
ATP1A2	477	broad.mit.edu	37	1	160093110	160093111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:160093110_160093111insG	ENST00000361216.3	+	4	374_375	c.285_286insG	c.(283-288)ttggggfs	p.LG95fs	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.LG95fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	95					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTCAGCTTTTCGGGGGGTTCTC	0.604													11	886	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160593935	160593936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:160593935_160593936insC	ENST00000302035.6	-	4	1089_1090	c.740_741insG	c.(739-741)ggtfs	p.G247fs	SLAMF1_ENST00000355199.3_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000235739.5_Intron|SLAMF1_ENST00000538290.1_Frame_Shift_Ins_p.G247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	247					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)			TCATGATGACACCCCCTAACAG	0.391													7	2069	---	---	---	---					
B4GALT3	8703	broad.mit.edu	37	1	161145761	161145762	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:161145761_161145762insC	ENST00000319769.5	-	3	311_312	c.89_90insG	c.(88-90)gttfs	p.V30fs	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.V30fs	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	30					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GACTTCGGAAGCCCCCCAGTGA	0.599													10	651	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:167865905_167865906insG	ENST00000367848.1	-	7	887_888	c.390_391insC	c.(388-393)ccatttfs	p.F131fs	ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332													14	639	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													28	861	---	---	---	---					
SEC16B	89866	broad.mit.edu	37	1	177913719	177913720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:177913719_177913720insG	ENST00000308284.6	-	15	1946_1947	c.1857_1858insC	c.(1855-1860)ccaatcfs	p.I620fs	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	620					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATGAAGGATTTGGGGCGGCCCA	0.485													9	669	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182845332	182845333	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:182845332_182845333insT	ENST00000367549.3	+	17	2073_2074	c.1963_1964insT	c.(1963-1965)tttfs	p.F655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGCTGTGTTGGTTTTTTTGCCT	0.381													7	515	---	---	---	---					
FAM129A	116496	broad.mit.edu	37	1	184764537	184764538	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:184764537_184764538insC	ENST00000367511.3	-	14	2553_2554	c.2360_2361insG	c.(2359-2361)gttfs	p.V787fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	787	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTCTGGAAATCCCCCCAACTC	0.668													7	707	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													9	519	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													7	876	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													14	500	---	---	---	---					
MSH6	2956	broad.mit.edu	37	2	48030796	48030797	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:48030796_48030797insG	ENST00000234420.4	+	5	3562_3563	c.3410_3411insG	c.(3409-3411)aggfs	p.R1137fs	MSH6_ENST00000538136.1_Frame_Shift_Ins_p.R835fs|MSH6_ENST00000540021.1_Frame_Shift_Ins_p.R1007fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1137					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGACCAAATATGGGGGGCAAGT	0.376			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				12	682	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													7	430	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													7	365	---	---	---	---					
AC112229.4	0	broad.mit.edu	37	2	111144507	111144508	+	RNA	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:111144507_111144508insG	ENST00000606848.1	-	0	1232_1233																											CATCCTGTGCTGGGGGAGCGGG	0.614													2	4	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					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						AGGACATAACTGGGGGGGATGT	0.421													8	314	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													9	301	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													15	235	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													25	980	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													9	127	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													7	134	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													12	326	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								13	214	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				15	54	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(985-990)ctccccfs	p.LP329fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													8	563	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													11	404	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													9	433	---	---	---	---					
PLCXD2	257068	broad.mit.edu	37	3	111394208	111394209	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr3:111394208_111394209insC	ENST00000393934.3	+	1	686_687	c.116_117insC	c.(115-117)cccfs	p.P39fs	PLCXD2_ENST00000477665.1_Frame_Shift_Ins_p.P39fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	39					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATGGCCTCGCTCCCCCCTCACC	0.545													7	312	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													10	492	---	---	---	---					
ANK2	287	broad.mit.edu	37	4	114280134	114280135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:114280134_114280135insG	ENST00000357077.4	+	38	10413_10414	c.10360_10361insG	c.(10360-10362)gggfs	p.G3454fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3421					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T3457fs*8(1)		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)		ATCTTCCTGCAGGGGGGGCACG	0.455													8	151	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2076)aggfs	p.R692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs					teneurin transmembrane protein 3																		GGCGTTTGCATGGGGGGGACGT	0.589													27	482	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													10	199	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799540	31799541	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:31799540_31799541insC	ENST00000438447.1	+	2	573_574	c.185_186insC	c.(184-186)accfs	p.T62fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.T62fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.E65fs*34(1)|p.E65fs*21(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCTGATCACAGCCCCCCCGAAA	0.589													12	366	---	---	---	---					
C5orf42	65250	broad.mit.edu	37	5	37108532	37108533	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:37108532_37108533insT	ENST00000274258.7	-	51	9560_9561	c.5973_5974insA	c.(5971-5976)aaatggfs	p.W1992fs	C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.W3094fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.W3094fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3094										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCACTTCCATGTTTTTTTGTAT	0.431													9	556	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													9	119	---	---	---	---					
FYB	2533	broad.mit.edu	37	5	39202090	39202091	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:39202090_39202091insC	ENST00000351578.6	-	2	1162_1163	c.972_973insG	c.(970-975)ggcatgfs	p.M325fs	FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	325					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	p.P325A(3)|p.P335A(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGGCCCCATGGCCCCCCCACTG	0.540													15	241	---	---	---	---					
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:52402939_52402940insG	ENST00000361377.4	-	3	293_294	c.252_253insC	c.(250-255)ccttagfs	p.*85fs	MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	85					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426													10	281	---	---	---	---					
ENC1	8507	broad.mit.edu	37	5	73931269	73931270	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:73931269_73931270insC	ENST00000302351.4	-	2	2171_2172	c.1041_1042insG	c.(1039-1044)ggggggfs	p.GG347fs	ENC1_ENST00000537006.1_Frame_Shift_Ins_p.GG347fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.GG274fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	347					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCAGACCCCCGCCCCCCAGTAA	0.530													9	195	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													13	450	---	---	---	---					
ZNF474	133923	broad.mit.edu	37	5	121487933	121487934	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:121487933_121487934insC	ENST00000296600.4	+	2	631_632	c.248_249insC	c.(247-249)accfs	p.T83fs	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	83						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AGCCAGCTTAGCCCCCCTGTGA	0.485													8	251	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			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)		TTACAGGTAAACCCCCCCAGGG	0.421													15	515	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				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	p.P1623P(2)		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)		TGCTATTGACAGGGGGGCATGT	0.505													11	2000	---	---	---	---					
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)ggccacfs	p.H834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584													7	279	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													14	718	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:141242814_141242815insG	ENST00000287008.3	-	3	3228_3229	c.3081_3082insC	c.(3079-3084)ccaatafs	p.I1028fs	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	1028					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)		CTGGGGTATTTGGGGGGGTTGG	0.634													9	269	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													8	326	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145523013	145523014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:145523013_145523014insC	ENST00000394434.2	-	19	2004_2005	c.1838_1839insG	c.(1837-1839)gaafs	p.E613fs	LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs|LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CATGCAAGTTACCCCCCTGCAA	0.450													9	1266	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													7	293	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156915296	156915297	+	Frame_Shift_Ins	INS	-	-	G	rs11466804	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr5:156915296_156915297insG	ENST00000257527.4	-	21	2604_2605	c.2526_2527insC	c.(2524-2529)cccaccfs	p.T843fs	ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.T843fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.T845fs|ADAM19_ENST00000430702.2_Frame_Shift_Ins_p.T576fs	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	843					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAATTTGGTGCGGGGGGAATTG	0.564													7	464	---	---	---	---					
EXOC2	55770	broad.mit.edu	37	6	637793	637794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:637793_637794insG	ENST00000230449.4	-	2	160_161	c.25_26insC	c.(25-27)tgtfs	p.C9fs	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	9	IPT/TIG.				exocytosis|protein transport			p.Q6fs*28(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GCCGGTCACAAGGGGGGGTTGT	0.485													14	518	---	---	---	---					
WRNIP1	56897	broad.mit.edu	37	6	2785351	2785352	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:2785351_2785352insC	ENST00000380769.4	+	7	1404_1405	c.1173_1174insC	c.(1171-1176)ctccccfs	p.LP391fs	WRNIP1_ENST00000380773.4_Frame_Shift_Ins_p.LP611fs|WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.LP586fs|WRNIP1_ENST00000380764.1_Frame_Shift_Ins_p.LP227fs			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	611					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGGGGCCACTGCCCCCCGTGCC	0.584													7	192	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													10	319	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													21	505	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													31	2808	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26428210	26428210	+	RNA	DEL	A	A	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:26428210delA	ENST00000466808.2	+	0	1179																											CTCCAAAAGGAAAAAAAAGAT	0.413													8	301	---	---	---	---					
ATAT1	79969	broad.mit.edu	37	6	30610713	30610714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:30610713_30610714insC	ENST00000376483.4	+	10	903_904	c.893_894insC	c.(892-894)tccfs	p.S298fs	ATAT1_ENST00000329992.8_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.S298fs|ATAT1_ENST00000319027.5_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000318999.7_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000468713.1_Intron|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.S275fs|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.S286fs			Q5SQI0	ATAT_HUMAN	alpha tubulin acetyltransferase 1	298							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TTGCGCCTCTGCCCCCCACACC	0.658													10	516	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000452441.1_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000376570.4_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					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)	TGTACATTTTTGGGGGGAGAGA	0.441													9	475	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608162	31608163	+	Splice_Site	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:31608162_31608163insG	ENST00000404765.2	-	23	3426_3427	c.3138_splice	c.e23+1	p.R1046_splice	BAG6_ENST00000375964.6_Splice_Site_p.R1016_splice|BAG6_ENST00000211379.5_Splice_Site_p.R1010_splice|BAG6_ENST00000375976.4_Splice_Site_p.R1010_splice|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000362049.6_Splice_Site_p.R1010_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	1016					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGACACTTACTGGGGGGACTGC	0.554													8	690	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608570	31608571	+	Splice_Site	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:31608570_31608571insG	ENST00000404765.2	-	21	3221_3222	c.2934_splice	c.e21+1	p.A978_splice	BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	948					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTCCCTTACCTGGGGGGGATCA	0.535													12	309	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													14	494	---	---	---	---					
PPT2	9374	broad.mit.edu	37	6	32130626	32130627	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32130626_32130627insG	ENST00000324816.6	+	9	1376_1377	c.808_809insG	c.(808-810)gggfs	p.G270fs	PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000375137.2_Frame_Shift_Ins_p.G270fs|PPT2_ENST00000375143.2_Frame_Shift_Ins_p.G270fs|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000361568.2_Frame_Shift_Ins_p.G276fs|PPT2_ENST00000395523.1_Frame_Shift_Ins_p.G270fs|PPT2_ENST00000445576.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	270					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R276Q(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TCTATTGGCCCGGGGGGCCATA	0.540													11	320	---	---	---	---					
GPSM3	63940	broad.mit.edu	37	6	32159157	32159158	+	Frame_Shift_Ins	INS	-	-	G	rs149772913	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32159157_32159158insG	ENST00000375040.3	-	4	860_861	c.468_469insC	c.(466-471)cccacafs	p.T157fs	GPSM3_ENST00000375043.3_Frame_Shift_Ins_p.T157fs|GPSM3_ENST00000487761.1_Frame_Shift_Ins_p.T154fs	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	157					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CAGGTGTGTGTGGGGGGCCGGG	0.634													8	568	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	Translation_Start_Site	INS	-	-	AT	rs17204758		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.540										Multiple Myeloma(14;0.17)			14	30	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													7	338	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000450514.1_RNA|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|HCG25_ENST00000427196.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													14	246	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	225	---	---	---	---					
SPACA1	81833	broad.mit.edu	37	6	88775919	88775920	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:88775919_88775920insG	ENST00000237201.1	+	7	868_869	c.751_752insG	c.(751-753)gggfs	p.G251fs	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	251						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CAAGGCTTTCTGGGGGGCAAAA	0.396													8	125	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													22	388	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													7	699	---	---	---	---					
TNS3	64759	broad.mit.edu	37	7	47385877	47385878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:47385877_47385878insC	ENST00000398879.1	-	18	2724_2725	c.2358_2359insG	c.(2356-2361)ggagctfs	p.A787fs	TNS3_ENST00000311160.9_Frame_Shift_Ins_p.A787fs|TNS3_ENST00000355730.3_Frame_Shift_Ins_p.A547fs			Q68CZ2	TENS3_HUMAN	tensin 3	787						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AAGGGCAGCTGCCCCCCAGCAT	0.604													7	216	---	---	---	---					
COBL	23242	broad.mit.edu	37	7	51287561	51287562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:51287561_51287562insG	ENST00000395542.2	-	2	305_306	c.121_122insC	c.(121-123)cgafs	p.R41fs	COBL_ENST00000265136.7_Frame_Shift_Ins_p.R41fs|COBL_ENST00000395540.2_Frame_Shift_Ins_p.R41fs|COBL_ENST00000441453.1_Frame_Shift_Ins_p.R41fs			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	41										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCCCATCGTGGGGGGGCTTC	0.604													7	93	---	---	---	---					
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337													4	5	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													10	745	---	---	---	---					
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3835-3840)atggggfs	p.MG1279fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1279					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446													7	392	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													17	240	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:14848680_14848681insG	ENST00000380881.4	-	8	2061_2062	c.1246_1247insC	c.(1246-1248)tgtfs	p.C416fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426													10	296	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564													16	200	---	---	---	---					
MTAP	4507	broad.mit.edu	37	9	21854744	21854745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:21854744_21854745insG	ENST00000380172.4	+	6	771_772	c.565_566insG	c.(565-567)gggfs	p.G189fs	MTAP_ENST00000460874.2_Frame_Shift_Ins_p.G206fs|MTAP_ENST00000580900.1_Frame_Shift_Ins_p.G189fs|RP11-145E5.5_ENST00000404796.2_Intron	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	189					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	GTTCCGCACCTGGGGGGCGGAT	0.525													8	234	---	---	---	---					
APBA1	320	broad.mit.edu	37	9	72047492	72047493	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:72047492_72047493insG	ENST00000265381.4	-	12	2623_2624	c.2401_2402insC	c.(2401-2403)cgafs	p.R801fs		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	801	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GATCTTCTCGTGGGGGGTGGCC	0.624													7	266	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													8	403	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													14	291	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													7	765	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135785963	135785964	+	Frame_Shift_Ins	INS	-	-	G	rs118203506		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr9:135785963_135785964insG	ENST00000298552.3	-	12	1478_1479	c.1257_1258insC	c.(1255-1260)ccggaafs	p.E420fs	TSC1_ENST00000440111.2_Frame_Shift_Ins_p.E420fs|TSC1_ENST00000545250.1_Frame_Shift_Ins_p.E369fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	420					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CGCACCTTCCTGGGGGGTGTGA	0.559			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	246	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								14	499	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30315843	30315844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:30315843_30315844insG	ENST00000375377.1	-	3	3334_3335	c.3233_3234insC	c.(3232-3234)cggfs	p.R1078fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1078										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGACTCACCTGGGGGGATTTC	0.619													7	534	---	---	---	---					
C10orf71	118461	broad.mit.edu	37	10	50530937	50530938	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:50530937_50530938insC	ENST00000374144.3	+	3	635_636	c.347_348insC	c.(346-348)accfs	p.T116fs	C10orf71_ENST00000323868.4_Frame_Shift_Ins_p.T116fs			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	116										endometrium(1)	1						CCCAAAACCAGCCCCCCACCAA	0.545													8	512	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													26	467	---	---	---	---					
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:75560463_75560464insC	ENST00000604729.1	+	24	5365_5366	c.5068_5069insC	c.(5068-5070)cccfs	p.P1690fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs					zinc finger, SWIM-type containing 8																		CTTCTCCCGCTCCCCCCCCTAC	0.604													16	131	---	---	---	---					
MYOF	26509	broad.mit.edu	37	10	95169434	95169435	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:95169434_95169435insC	ENST00000371501.4	-	6	617_618	c.495_496insG	c.(493-498)ggccaafs	p.Q166fs	MYOF_ENST00000359263.4_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000358334.5_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.Q166fs|MYOF_ENST00000371489.1_Frame_Shift_Ins_p.Q166fs			Q9NZM1	MYOF_HUMAN	myoferlin	166					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCCCTTGGGCCCAGGGCCCC	0.535													32	1010	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	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)		AACTCCTCTTCGGGGGGAAACT	0.470													9	789	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													8	264	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													18	1342	---	---	---	---					
DENND5A	23258	broad.mit.edu	37	11	9167316	9167317	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:9167316_9167317insC	ENST00000328194.3	-	17	3223_3224	c.2903_2904insG	c.(2902-2904)gtcfs	p.V968fs	DENND5A_ENST00000530044.1_Frame_Shift_Ins_p.V968fs|DENND5A_ENST00000527700.1_Frame_Shift_Ins_p.V311fs	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	968	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAACATGGAGCCCCCCAGCTT	0.480													10	993	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	788	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406													9	159	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													9	954	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													7	195	---	---	---	---					
BSCL2	26580	broad.mit.edu	37	11	62458782	62458783	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:62458782_62458783insC	ENST00000433053.1	-	8	1530_1531	c.974_975insG	c.(973-975)gatfs	p.D325fs	BSCL2_ENST00000403550.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000360796.5_Frame_Shift_Ins_p.D325fs|BSCL2_ENST00000407022.3_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000421906.1_Frame_Shift_Ins_p.D261fs|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000405837.1_Frame_Shift_Ins_p.D325fs|RP11-831H9.16_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	261					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GGGGCCAGATGCCCCCCCACAC	0.559													7	82	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													17	1319	---	---	---	---					
NCAPD3	23310	broad.mit.edu	37	11	134048585	134048586	+	Frame_Shift_Ins	INS	-	-	G	rs138442478		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:134048585_134048586insG	ENST00000534548.2	-	22	2789_2790	c.2725_2726insC	c.(2725-2727)ggtfs	p.G909fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACCTCTGACCTGGGGGGGTGGC	0.525													11	229	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7177938	7177939	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:7177938_7177939insC	ENST00000406697.1	+	15	2678_2679	c.2050_2051insC	c.(2050-2052)cccfs	p.P684fs	C1S_ENST00000360817.5_Frame_Shift_Ins_p.P684fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.P684fs|C1S_ENST00000402681.3_Frame_Shift_Ins_p.P517fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	684					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGAAAATAGCACCCCCCGTGAG	0.490													11	705	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			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)		TGTCATTGGTGCCCCCCGCATA	0.554													14	1037	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					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)	ATGCCAATGCTGGGGGGGCTCT	0.589													7	177	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:53856277_53856278insC	ENST00000603815.1	+	8	867_868	c.517_518insC	c.(517-519)cccfs	p.P173fs	PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.500													9	147	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													12	2699	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000545204.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								7	243	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			7	235	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													7	177	---	---	---	---					
USP30	84749	broad.mit.edu	37	12	109495864	109495865	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:109495864_109495865insC	ENST00000257548.5	+	3	420_421	c.327_328insC	c.(325-330)gaccccfs	p.DP109fs	USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	109					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCAGAAGGAGCCCCCCTCACA	0.485													9	1725	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN							response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CGCCAGCGCCTGGGGGGAGGAG	0.644													14	441	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													55	1349	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													13	382	---	---	---	---					
CPB2	1361	broad.mit.edu	37	13	46658415	46658416	+	Frame_Shift_Ins	INS	-	-	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:46658415_46658416insA	ENST00000181383.4	-	3	229_230	c.213_214insT	c.(211-216)tttaaafs	p.K72fs	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Frame_Shift_Ins_p.K72fs	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	72					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATGCATTTACAAAAAAATGGA	0.361													7	387	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													9	761	---	---	---	---					
COL4A1	1282	broad.mit.edu	37	13	110864791	110864792	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr13:110864791_110864792insG	ENST00000375820.4	-	6	480_481	c.359_360insC	c.(358-360)cggfs	p.R120fs	COL4A1_ENST00000543140.1_Frame_Shift_Ins_p.R120fs	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	120					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P120Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGGAATACCTGGGGGGCCTGG	0.455													7	261	---	---	---	---					
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:20612063_20612064insC	ENST00000333629.1	+	1	169_170	c.169_170insC	c.(169-171)cccfs	p.P57fs		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TGGGCTCACAGCCCCCCTCTAT	0.460													7	971	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													9	662	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													12	141	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													11	1620	---	---	---	---					
NID2	22795	broad.mit.edu	37	14	52481918	52481919	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:52481918_52481919insG	ENST00000216286.5	-	15	3102_3103	c.3103_3104insC	c.(3103-3105)ggafs	p.G1035fs	NID2_ENST00000541773.1_Frame_Shift_Ins_p.G934fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1035	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGGTCATCCCGGGGGGTGCCA	0.624													8	197	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72165808	72165809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:72165808_72165809insG	ENST00000555818.1	+	11	3833_3834	c.3485_3486insG	c.(3484-3486)gggfs	p.G1162fs	SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1162					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGTTCTGTGGGGGGCACTT	0.495													8	383	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)gggfs	p.G326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644													11	156	---	---	---	---					
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)ccaggtfs	p.G387fs	SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATAG	0.490													7	146	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63044512	63044512	+	Frame_Shift_Del	DEL	T	T	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:63044512delT	ENST00000561311.1	+	34	4448	c.4218delT	c.(4216-4218)ggfs	p.G1406fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.G1406fs			Q9Y4G6	TLN2_HUMAN	talin 2	1406					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						AGGTTCTGGGTGAATCGATGG	0.512													129	311	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64967993	64967994	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:64967993_64967994insC	ENST00000326648.3	+	4	3068_3069	c.2940_2941insC	c.(2938-2943)gtccccfs	p.VP980fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	980						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGCCTATGTACCCCCCTATGG	0.550													12	1346	---	---	---	---					
GOLGA6C	653641	broad.mit.edu	37	15	75562488	75562489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:75562488_75562489insC	ENST00000300576.5	+	18	2030_2031	c.2030_2031insC	c.(2029-2031)accfs	p.T677fs		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	677										ovary(1)	1						CCCCATGACAACCCCCCGGTAC	0.604													8	372	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													3	5	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					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						GCAACGTCCTGCCCCCCGGCAC	0.505													9	217	---	---	---	---					
RRN3P1	730092	broad.mit.edu	37	16	21814059	21814060	+	RNA	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:21814059_21814060insG	ENST00000546471.1	-	0	1607																											CCTATAACAAAGGGGGGGGAAA	0.381													10	85	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24802365	24802366	+	Frame_Shift_Ins	INS	-	-	G	rs139212478	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:24802365_24802366insG	ENST00000395799.3	+	6	2531_2532	c.2402_2403insG	c.(2401-2403)cggfs	p.R801fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.R801fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	801	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCAAACTGCCAGGGGGGGTGGG	0.510													10	104	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24804808	24804809	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:24804808_24804809insG	ENST00000395799.3	+	7	3319_3320	c.3190_3191insG	c.(3190-3192)gggfs	p.G1064fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1064fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1064	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGTGAGCCCTGGGGGGAGCCT	0.520													8	198	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													9	633	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5623-5628)caccccfs	p.HP1875fs	SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													12	187	---	---	---	---					
C16orf87	388272	broad.mit.edu	37	16	46843530	46843531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:46843530_46843531insT	ENST00000285697.4	-	3	591_592	c.330_331insA	c.(328-333)aaatgafs	p.*111fs	C16orf87_ENST00000394806.2_Intron|C16orf87_ENST00000564250.1_5'UTR	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	111										large_intestine(4)|urinary_tract(1)	5						TCTTCCTCATGTTTTTTGGCAG	0.351													9	828	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													14	609	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													7	145	---	---	---	---					
GLOD4	51031	broad.mit.edu	37	17	673668	673669	+	Frame_Shift_Ins	INS	-	-	G	rs148496651		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:673668_673669insG	ENST00000301329.6	-	6	707_708	c.622_623insC	c.(622-624)gaafs	p.E208fs	GLOD4_ENST00000536578.1_Frame_Shift_Ins_p.E199fs|GLOD4_ENST00000301328.5_Frame_Shift_Ins_p.E223fs	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	223						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TACCTCTTTCTGGGGGCAAGAG	0.480													8	2228	---	---	---	---					
RPA1	6117	broad.mit.edu	37	17	1782982	1782983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:1782982_1782983insG	ENST00000254719.5	+	11	1191_1192	c.1081_1082insG	c.(1081-1083)gggfs	p.G361fs		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	361					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGCTACACTGTGGGGGGAAGAT	0.530								Nucleotide excision repair (NER)					8	960	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													8	804	---	---	---	---					
CCT6B	10693	broad.mit.edu	37	17	33255997	33255998	+	Frame_Shift_Ins	INS	-	-	T			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:33255997_33255998insT	ENST00000314144.5	-	13	1621_1622	c.1506_1507insA	c.(1504-1509)aaaactfs	p.T503fs	CCT6B_ENST00000436961.3_Frame_Shift_Ins_p.T458fs|CCT6B_ENST00000421975.3_Frame_Shift_Ins_p.T466fs	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	503					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGAAGAAGTTGTTTTTTTACAC	0.292													7	374	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													9	828	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37687471	37687472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:37687471_37687472insG	ENST00000447079.4	+	14	4408_4409	c.4375_4376insG	c.(4375-4377)gggfs	p.G1459fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGGCCTTCACTGGGGGGGCCCA	0.559			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	100	---	---	---	---					
DHX8	1659	broad.mit.edu	37	17	41582094	41582095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:41582094_41582095insG	ENST00000262415.3	+	12	1701_1702	c.1629_1630insG	c.(1627-1632)ttggggfs	p.LG543fs	DHX8_ENST00000540306.1_Frame_Shift_Ins_p.LG543fs	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	543						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCATGCCTTTGGGGGCAACAA	0.505													8	728	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													18	1309	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													11	253	---	---	---	---					
ELAC1	55520	broad.mit.edu	37	18	48513152	48513152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr18:48513152delA	ENST00000269466.3	+	4	896	c.789delA	c.(787-789)gtfs	p.V263fs	SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000588256.1_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	263					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)		ATGGAGGAGTAAAACTGTGCT	0.478													28	43	---	---	---	---					
STAP2	55620	broad.mit.edu	37	19	4324196	4324197	+	Splice_Site	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:4324196_4324197insG	ENST00000600324.1	-	13	1353		c.e13-2		STAP2_ENST00000594605.1_Splice_Site	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2							cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCAGCCCTGGGGGTTCAGG	0.644													2	4	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	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						GGAAGGGGAGAGGGGGGGATAT	0.530													11	356	---	---	---	---					
OR7G3	390883	broad.mit.edu	37	19	9237452	9237453	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:9237452_9237453insG	ENST00000305444.2	-	1	173_174	c.174_175insC	c.(172-177)cctgtafs	p.V59fs		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGGAAGTACATGGGGGTGTGGA	0.550													7	597	---	---	---	---					
CYP4F2	8529	broad.mit.edu	37	19	16006366	16006367	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:16006366_16006367insG	ENST00000221700.5	-	3	387_388	c.292_293insC	c.(292-294)cctfs	p.P98fs	CYP4F2_ENST00000592328.1_Intron|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	98					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAAACTGAGGAGGGGGGAGATG	0.594													8	669	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)gtafs	p.V546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGATAGCCCCCCCAGCT	0.559													9	172	---	---	---	---					
FBL	2091	broad.mit.edu	37	19	40325192	40325193	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:40325192_40325193insG	ENST00000221801.3	-	9	1064_1065	c.951_952insC	c.(949-954)ccaggtfs	p.G318fs	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	318					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TTCTTCACCTTGGGGGGTGGCC	0.505													7	335	---	---	---	---					
HIPK4	147746	broad.mit.edu	37	19	40886757	40886758	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:40886757_40886758insG	ENST00000291823.2	-	3	1424_1425	c.1140_1141insC	c.(1138-1143)cccgccfs	p.A381fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	381			T -> M (in dbSNP:rs55760165).			cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			ACGACGGGCGTGGGGGGCTTCC	0.658													8	445	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													13	871	---	---	---	---					
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:46663998_46663999insC	ENST00000434646.2	+	4	525_526	c.234_235insC	c.(232-237)ggccccfs	p.GP78fs	IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs|IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	67						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)		GCCAATGTGGTCCCCCCTGCAC	0.554													10	1024	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													8	278	---	---	---	---					
TRPM4	54795	broad.mit.edu	37	19	49684698	49684699	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:49684698_49684699insG	ENST00000252826.5	+	10	1369_1370	c.1243_1244insG	c.(1243-1245)gggfs	p.G415fs	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000601347.1_Intron|TRPM4_ENST00000427978.2_Frame_Shift_Ins_p.G415fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	415					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	p.R415W(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGAACTCTTTCGGGGGGACATC	0.584													7	227	---	---	---	---					
SLC6A16	28968	broad.mit.edu	37	19	49813085	49813086	+	Splice_Site	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:49813085_49813086insG	ENST00000454748.3	-	5	902		c.e5-2		SLC6A16_ENST00000335875.4_Splice_Site			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16							integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		ATTCAGGATCTGGGGGGACCTG	0.535													7	358	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													12	319	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					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)		GTTAAACCAGACCCCCCCAAGA	0.530													7	84	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					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)	GTCTCACCAGTCCCCCCCAGGG	0.653													10	266	---	---	---	---					
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)ttcfs	p.F459fs	ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.450													7	694	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													14	426	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													29	405	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													7	239	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													14	323	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													7	484	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													17	811	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													8	92	---	---	---	---					
SH3BGR	6450	broad.mit.edu	37	21	40823994	40823995	+	Frame_Shift_Ins	INS	-	-	G	rs35950439		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr21:40823994_40823995insG	ENST00000333634.4	+	1	239_240	c.161_162insG	c.(160-162)tggfs	p.W54fs	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	54					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AGGGGTGTGTTGGGGGGAGTCC	0.554													7	531	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													11	947	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AACAGGAAGCCGGGGGGGCGTC	0.525													14	337	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													9	493	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													20	579	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47034469	47034470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:47034469_47034470insA	ENST00000377604.3	+	6	1296_1297	c.554_555insA	c.(553-555)acgfs	p.T185fs	RBM10_ENST00000345781.6_Frame_Shift_Ins_p.T108fs|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Frame_Shift_Ins_p.T108fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	185	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGGACGCTACACGATGGATGG	0.525													31	22	---	---	---	---					
ZCCHC12	170261	broad.mit.edu	37	X	117960135	117960136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:117960135_117960136insC	ENST00000310164.2	+	4	1435_1436	c.928_929insC	c.(928-930)cccfs	p.P310fs		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GGTCATTGATTCCCCCCACAAT	0.564													8	266	---	---	---	---					
RP1-209A6.1	0	broad.mit.edu	37	6	22831550	22831550	+	RNA	DEL	T	T	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr6:22831550delT	ENST00000420572.2	-	0	197																											catccttccctccctccttcc	0.433													2	4	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268293	65268296	+	RNA	DEL	TTTA	TTTA	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:65268293_65268296delTTTA	ENST00000534336.1	+	0	3061_3064					NR_002819.2																						ATGGTAACCTTTTATTTATTTTCT	0.426													11	71	---	---	---	---					
GSTP1	2950	broad.mit.edu	37	11	67353976	67353977	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr11:67353976_67353977insCC	ENST00000398606.3	+	7	810_811	c.561_562insCC	c.(559-564)cgccaafs	p.Q188fs	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Frame_Shift_Ins_p.Q152fs	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	188	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	p.R187R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TCAGTGCCCGGCCCAAGCTCAA	0.629													22	63	---	---	---	---					
LOC100507377	100507377	broad.mit.edu	37	12	74669120	74669120	+	RNA	DEL	T	T	-	rs35644413		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr12:74669120delT	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_RNA																							TTTTTTGGGGTTTTTTTTTTT	0.308													2	4	---	---	---	---					
IGHG1	3500	broad.mit.edu	37	14	106208852	106208853	+	RNA	INS	-	-	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr14:106208852_106208853insA	ENST00000390548.2	-	0	295																											TGGCTCTTGGCAGGTCTGAGCC	0.624													11	24	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63044512	63044512	+	Frame_Shift_Del	DEL	T	T	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr15:63044512delT	ENST00000561311.1	+	34	4448	c.4218delT	c.(4216-4218)ggfs	p.G1406fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.G1406fs			Q9Y4G6	TLN2_HUMAN	talin 2	1406					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						AGGTTCTGGGTGAATCGATGG	0.512													32	183	---	---	---	---					
ELAC1	55520	broad.mit.edu	37	18	48513152	48513152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chr18:48513152delA	ENST00000269466.3	+	4	896	c.789delA	c.(787-789)gtfs	p.V263fs	RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	263					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)		ATGGAGGAGTAAAACTGTGCT	0.478													21	57	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47034469	47034470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01D-1489-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	326f84e7-ec3d-48b0-a470-d07502cd7fef	g.chrX:47034469_47034470insA	ENST00000377604.3	+	6	1296_1297	c.554_555insA	c.(553-555)acgfs	p.T185fs	RBM10_ENST00000329236.7_Frame_Shift_Ins_p.T108fs|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.T108fs|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	185	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGGACGCTACACGATGGATGG	0.525													41	24	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs6667693	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:26608843_26608844insGGGACA	ENST00000314675.7	-	11	1228_1229	c.1149_1150insTGTCCC	c.(1147-1152)ccgtcc>ccTGTCCCgtcc	p.382_383insPV	UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	502						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733													2	4	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1795-1800)ccggggfs	p.PG599fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	599					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGTGGCCCCTGGGGGGGCCTT	0.663													7	178	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150477198	150477199	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:150477198_150477199insG	ENST00000369064.3	+	15	1843_1844	c.1809_1810insG	c.(1807-1812)tgggggfs	p.WG603fs	TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs|TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	603					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.C603C(2)|p.G604W(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAAGCTGCGGGGGGAAATG	0.569													9	734	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160593935	160593936	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:160593935_160593936insC	ENST00000302035.6	-	4	1089_1090	c.740_741insG	c.(739-741)ggtfs	p.G247fs	SLAMF1_ENST00000355199.3_Frame_Shift_Ins_p.G247fs|SLAMF1_ENST00000235739.5_Intron|SLAMF1_ENST00000538290.1_Frame_Shift_Ins_p.G247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	247					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)			TCATGATGACACCCCCTAACAG	0.391													7	2069	---	---	---	---					
AC112229.4	0	broad.mit.edu	37	2	111144507	111144508	+	RNA	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr2:111144507_111144508insG	ENST00000606848.1	-	0	1232_1233																											CATCCTGTGCTGGGGGAGCGGG	0.614													2	4	---	---	---	---					
CTC-498M16.4	0	broad.mit.edu	37	5	87758754	87758755	+	RNA	INS	-	-	GA	rs138566195	by1000genomes	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:87758754_87758755insGA	ENST00000504034.2	-	0	25																											gatgactataggaaaggagcat	0.426													4	2	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755744	149755745	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:149755744_149755745insC	ENST00000451292.1	+	13	2101_2102	c.1993_1994insC	c.(1993-1995)cccfs	p.P665fs	TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.P588fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.P665fs|TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.P665fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	665			A -> P (in dbSNP:rs2071240).		skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCACCCAAGCCCCCCGGAAA	0.584													7	293	---	---	---	---					
BTN2A3P	54718	broad.mit.edu	37	6	26428210	26428210	+	RNA	DEL	A	A	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr6:26428210delA	ENST00000466808.2	+	0	1179																											CTCCAAAAGGAAAAAAAAGAT	0.413													8	301	---	---	---	---					
DDR1	780	broad.mit.edu	37	6	30867830	30867831	+	Frame_Shift_Ins	INS	-	-	G	rs146246499	byFrequency	TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr6:30867830_30867831insG	ENST00000361741.4	+	12	1492_1493	c.1297_1298insG	c.(1297-1299)gggfs	p.G433fs	DDR1_ENST00000376568.3_3'UTR|DDR1_ENST00000324771.8_3'UTR|DDR1_ENST00000376575.3_3'UTR|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376567.2_3'UTR|DDR1_ENST00000376570.4_3'UTR|DDR1_ENST00000376569.3_3'UTR|DDR1_ENST00000454612.2_3'UTR|DDR1_ENST00000452441.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					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)	TGTACATTTTTGGGGGGAGAGA	0.441													9	475	---	---	---	---					
DDX39B	7919	broad.mit.edu	37	6	31503220	31503221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr6:31503220_31503221insG	ENST00000417556.2	-	7	1333_1334	c.703_704insC	c.(703-705)cgafs	p.R235fs	DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.R220fs|DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.R220fs|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.R220fs|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.R142fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.R173fs			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	220	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTGCTTCTCGTGGGGGGTCATG	0.436													8	798	---	---	---	---					
MTAP	4507	broad.mit.edu	37	9	21854744	21854745	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:21854744_21854745insG	ENST00000380172.4	+	6	771_772	c.565_566insG	c.(565-567)gggfs	p.G189fs	RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Frame_Shift_Ins_p.G206fs|MTAP_ENST00000580900.1_Frame_Shift_Ins_p.G189fs	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	189					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	GTTCCGCACCTGGGGGGCGGAT	0.525													8	234	---	---	---	---					
TSC1	7248	broad.mit.edu	37	9	135785963	135785964	+	Frame_Shift_Ins	INS	-	-	G	rs118203506		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr9:135785963_135785964insG	ENST00000298552.3	-	12	1478_1479	c.1257_1258insC	c.(1255-1260)ccggaafs	p.E420fs	TSC1_ENST00000440111.2_Frame_Shift_Ins_p.E420fs|TSC1_ENST00000545250.1_Frame_Shift_Ins_p.E369fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	420					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CGCACCTTCCTGGGGGGTGTGA	0.559			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				7	246	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30315843	30315844	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr10:30315843_30315844insG	ENST00000375377.1	-	3	3334_3335	c.3233_3234insC	c.(3232-3234)cggfs	p.R1078fs		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1078										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGACTCACCTGGGGGGATTTC	0.619													7	534	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63044512	63044512	+	Frame_Shift_Del	DEL	T	T	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:63044512delT	ENST00000561311.1	+	34	4448	c.4218delT	c.(4216-4218)ggfs	p.G1406fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.G1406fs			Q9Y4G6	TLN2_HUMAN	talin 2	1406					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						AGGTTCTGGGTGAATCGATGG	0.512													129	311	---	---	---	---					
IQCH-AS1	100506686	broad.mit.edu	37	15	67797209	67797210	+	RNA	DEL	AC	AC	-	rs112079823		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:67797209_67797210delAC	ENST00000559298.1	-	0	91					NR_040051.1																						gcacacacatacacacacacac	0.337													2	4	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					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						GCAACGTCCTGCCCCCCGGCAC	0.505													9	217	---	---	---	---					
RP11-527L4.5	0	broad.mit.edu	37	17	41996740	41996740	+	RNA	DEL	C	C	-	rs10707241		TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:41996740delC	ENST00000585329.1	-	0	288																											ggcgtgcaggcctctggtgat	0.552													4	6	---	---	---	---					
ELAC1	55520	broad.mit.edu	37	18	48513152	48513152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr18:48513152delA	ENST00000269466.3	+	4	896	c.789delA	c.(787-789)gtfs	p.V263fs	RP11-729L2.2_ENST00000588256.1_Intron|SMAD4_ENST00000452201.2_Intron|ELAC1_ENST00000588577.1_3'UTR|RP11-729L2.2_ENST00000590722.2_Intron	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	263					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)		ATGGAGGAGTAAAACTGTGCT	0.478													28	43	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					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)		GTTAAACCAGACCCCCCCAAGA	0.530													7	84	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47034469	47034470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-35-3615-01A-01W-0928-08	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22dd2a4e-2a44-4fe8-a706-dff4c9b56043	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrX:47034469_47034470insA	ENST00000377604.3	+	6	1296_1297	c.554_555insA	c.(553-555)acgfs	p.T185fs	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Frame_Shift_Ins_p.T108fs|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.T108fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	185	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGGACGCTACACGATGGATGG	0.525													31	22	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccg>cc	p.PQ1326del	ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1326					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	160	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000331860.3	+	3	313_336	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)del	p.EPGCTKVP95del	SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													29	132	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000331860.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)del	p.PGYTKVPE104del	SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													20	187	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)del	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				13	209	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)gccfs	p.A135fs	FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683													12	268	---	---	---	---					
MALAT1	378938	broad.mit.edu	37	11	65268293	65268296	+	RNA	DEL	TTTA	TTTA	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:65268293_65268296delTTTA	ENST00000534336.1	+	0	3061_3064					NR_002819.2																						ATGGTAACCTTTTATTTATTTTCT	0.426													11	71	---	---	---	---					
GSTP1	2950	broad.mit.edu	37	11	67353976	67353977	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr11:67353976_67353977insCC	ENST00000398606.3	+	7	810_811	c.561_562insCC	c.(559-564)cgccaafs	p.Q188fs	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Frame_Shift_Ins_p.Q152fs	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	188	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	p.R187R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TCAGTGCCCGGCCCAAGCTCAA	0.629													22	63	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													11	26	---	---	---	---					
RP11-394A14.2	0	broad.mit.edu	37	13	64407210	64407211	+	RNA	INS	-	-	TACTGTCAG			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366													8	147	---	---	---	---					
IGHG1	3500	broad.mit.edu	37	14	106208852	106208853	+	RNA	INS	-	-	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr14:106208852_106208853insA	ENST00000390548.2	-	0	295																											TGGCTCTTGGCAGGTCTGAGCC	0.624													11	24	---	---	---	---					
TLN2	83660	broad.mit.edu	37	15	63044512	63044512	+	Frame_Shift_Del	DEL	T	T	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr15:63044512delT	ENST00000561311.1	+	34	4448	c.4218delT	c.(4216-4218)ggfs	p.G1406fs	TLN2_ENST00000306829.6_Frame_Shift_Del_p.G1406fs			Q9Y4G6	TLN2_HUMAN	talin 2	1406					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						AGGTTCTGGGTGAATCGATGG	0.512													32	183	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													14	380	---	---	---	---					
MAZ	4150	broad.mit.edu	37	16	29821421	29821435	+	In_Frame_Del	DEL	GCGGCGGCAGCGGCA	GCGGCGGCAGCGGCA	-	rs75194070		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr16:29821421_29821435delGCGGCGGCAGCGGCA	ENST00000322945.6	+	5	1468_1482	c.1303_1317delGCGGCGGCAGCGGCA	c.(1303-1317)del	p.AAAAA440del	MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000545521.1_In_Frame_Del_p.AAAAA417del|MAZ_ENST00000566906.2_Splice_Site|MAZ_ENST00000563402.1_Splice_Site_p.G96_splice|MAZ_ENST00000562337.1_In_Frame_Del_p.AAAAA135del|MAZ_ENST00000219782.6_3'UTR|AC009133.14_ENST00000569981.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568544.1_In_Frame_Del_p.AAAAA41del	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	440	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTGTCCAATggcggcggcagcggcagcggcggcag	0.665													13	63	---	---	---	---					
TOP3A	7156	broad.mit.edu	37	17	18181544	18181545	+	Frame_Shift_Ins	INS	-	-	G			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:18181544_18181545insG	ENST00000321105.5	-	18	2485_2486	c.2271_2272insC	c.(2269-2274)ccgggcfs	p.PG757fs	TOP3A_ENST00000542570.1_Frame_Shift_Ins_p.PG662fs|TOP3A_ENST00000540524.1_Frame_Shift_Ins_p.PG287fs	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	757					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TGGCTAGCCCTGGGGGGGCCCC	0.639													7	159	---	---	---	---					
KAT2A	2648	broad.mit.edu	37	17	40272817	40272818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:40272817_40272818insC	ENST00000225916.5	-	2	422_423	c.369_370insG	c.(367-372)tgaaaafs	p.*123fs	CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.*157fs	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	123					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.K124E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGGTTTTTCCAGCCATTAC	0.584													43	107	---	---	---	---					
RP11-527L4.5	0	broad.mit.edu	37	17	41996740	41996740	+	RNA	DEL	C	C	-	rs10707241		TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr17:41996740delC	ENST00000585329.1	-	0	288																											ggcgtgcaggcctctggtgat	0.552													22	21	---	---	---	---					
ELAC1	55520	broad.mit.edu	37	18	48513152	48513152	+	Frame_Shift_Del	DEL	A	A	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr18:48513152delA	ENST00000269466.3	+	4	896	c.789delA	c.(787-789)gtfs	p.V263fs	RP11-729L2.2_ENST00000590722.2_Intron|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|ELAC1_ENST00000588577.1_3'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	263					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)		ATGGAGGAGTAAAACTGTGCT	0.478													21	57	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													9	245	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47034469	47034470	+	Frame_Shift_Ins	INS	-	-	A			TCGA-35-3615-01A-01D-1040-01	TCGA-35-3615-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21ce9500-32a5-42f4-ad44-37e9c4946015	67b0a584-12e3-4ab6-8015-03fde5c75ba4	g.chrX:47034469_47034470insA	ENST00000377604.3	+	6	1296_1297	c.554_555insA	c.(553-555)acgfs	p.T185fs	RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Frame_Shift_Ins_p.T108fs|RBM10_ENST00000329236.7_Frame_Shift_Ins_p.T108fs	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	185	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAGGACGCTACACGATGGATGG	0.525													41	24	---	---	---	---