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
MOAP1	64112	broad.mit.edu	37	14	93650050	93650050	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:93650050C>T	ENST00000556883.1	-	2	1022	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	MOAP1_ENST00000298894.4_Missense_Mutation_p.E180K			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	180					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		cgtccaaattcttcttctcct	0.512000													35	7					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145888726	145888726	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:145888726G>A	ENST00000296702.5	+	21	3051	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	TCERG1_ENST00000394421.2_Missense_Mutation_p.E984K	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1005	FF 5.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAGAATTTGAAGAATATAT	0.274000													21	32					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31854445	31854445	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:31854445G>A	ENST00000395728.3	-	17	2426	c.2427C>T	c.(2425-2427)tcC>tcT	p.S809S	EHMT2_ENST00000375530.4_Silent_p.S718S|EHMT2_ENST00000375537.4_Silent_p.S752S|EHMT2_ENST00000375528.4_Silent_p.S775S|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	752					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGAGGCAGGTGGAACCGTCCT	0.657000													25	27					0	0	1	0	0
TTC9B	148014	broad.mit.edu	37	19	40723191	40723191	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:40723191G>A	ENST00000311308.6	-	2	530	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	171							binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGGTGGCCTTGAAGTTGCCCT	0.657000													12	31					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819990	70819990	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:70819990G>A	ENST00000370944.4	-	1	415	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ANKRD13C_ENST00000262346.6_Silent_p.L34L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	34					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGGTACCGCCGAGGGCAGCCG	0.607000													20	36					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	153001576	153001576	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:153001576C>T	ENST00000218104.3	+	3	1491	c.1092C>T	c.(1090-1092)gcC>gcT	p.A364A	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	364	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCAGAGGCCGTGAAGAAGG	0.617000													17	3					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454047	114454047	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:114454047C>T	ENST00000394779.3	-	23	4145	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	C9orf84_ENST00000318737.4_Missense_Mutation_p.E1340K|C9orf84_ENST00000394777.4_Missense_Mutation_p.E1266K|C9orf84_ENST00000374287.3_Missense_Mutation_p.E1340K	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1340										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTTCAGACTCATCTGATAGA	0.388000													12	31					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43922565	43922565	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:43922565T>C	ENST00000537548.1	-	10	1914	c.1670A>G	c.(1669-1671)gAg>gGg	p.E557G	MATN4_ENST00000353917.5_Missense_Mutation_p.E475G|MATN4_ENST00000360607.6_Missense_Mutation_p.E516G|MATN4_ENST00000372756.1_Missense_Mutation_p.E557G|MATN4_ENST00000372754.1_Missense_Mutation_p.E598G|MATN4_ENST00000342716.4_Missense_Mutation_p.E557G|MATN4_ENST00000372751.4_Missense_Mutation_p.E408G			O95460	MATN4_HUMAN	matrilin 4	598	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGTCAGGCTCTCGAGCGCCCC	0.652000													62	11					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48548151	48548151	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:48548151T>A	ENST00000537810.1	-	42	5816	c.5212A>T	c.(5212-5214)Aat>Tat	p.N1738Y	FRYL_ENST00000358350.4_Missense_Mutation_p.N1738Y|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.N1738Y			O94915	FRYL_HUMAN	FRY-like	1738					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCAACCTCATTGAGGATAGTG	0.458000													24	20					0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14973934	14973934	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:14973934G>A	ENST00000287667.7	+	24	2991	c.2820G>A	c.(2818-2820)caG>caA	p.Q940Q		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	940						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CATCCTCACAGATGATCGAGG	0.547000													49	75					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123813348	123813348	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:123813348G>A	ENST00000420886.2	-	9	1228	c.1229C>T	c.(1228-1230)tCt>tTt	p.S410F	SBNO1_ENST00000602750.1_Missense_Mutation_p.S409F|SBNO1_ENST00000267176.4_Missense_Mutation_p.S409F|SBNO1_ENST00000602398.1_Missense_Mutation_p.S410F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	410							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTTGCCGCCAGACTGGCTTTC	0.348000													38	48					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591352	87591352	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:87591352A>G	ENST00000320005.5	-	16	1957	c.1910T>C	c.(1909-1911)aTc>aCc	p.I637T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	637					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTTCATGAGGATCCTTTCAGA	0.413000													61	221					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886715	45886715	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:45886715C>T	ENST00000007414.3	-	19	2201	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	OSBPL7_ENST00000392507.3_Silent_p.K670K	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	670					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						AGAAGGTGATCTTGCAGTGGC	0.597000													22	19					0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5687331	5687331	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:5687331G>A	ENST00000581521.1	+	8	922	c.447G>A	c.(445-447)gcG>gcA	p.A149A	HSD11B1L_ENST00000581893.1_Silent_p.A15A|HSD11B1L_ENST00000411793.2_Silent_p.A15A|HSD11B1L_ENST00000583928.1_Silent_p.A15A|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000342970.2_Silent_p.A62A|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000339423.2_Silent_p.A149A|HSD11B1L_ENST00000581773.1_Silent_p.A149A|HSD11B1L_ENST00000423665.2_Silent_p.A149A|HSD11B1L_ENST00000577917.1_Silent_p.A68A|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000301382.4_Silent_p.A68A			Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	149						extracellular region	binding|oxidoreductase activity										CGTCGCGGGCGCTGCCCAGCC	0.711000													14	24					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46568822	46568822	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:46568822C>T	ENST00000458649.2	-	4	637	c.219G>A	c.(217-219)gtG>gtA	p.V73V	AMBRA1_ENST00000426438.1_Silent_p.V73V|AMBRA1_ENST00000528950.1_Silent_p.V73V|AMBRA1_ENST00000533727.1_Silent_p.V73V|AMBRA1_ENST00000534300.1_Silent_p.V73V|AMBRA1_ENST00000298834.3_Silent_p.V73V|AMBRA1_ENST00000314845.3_Silent_p.V73V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	73					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TATTATGGTTCACATGGGTGG	0.438000													31	42					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30638684	30638684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:30638684C>T	ENST00000376442.3	-	3	687	c.492G>A	c.(490-492)tgG>tgA	p.W164*		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	164					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						CTGTCCGTTCCCACTCATCTT	0.572000													34	50					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112608424	112608424	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:112608424G>A	ENST00000341068.3	-	14	2351	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	527					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTACTGGGCCGAGGCATTGTG	0.433000													29	60					0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14066749	14066749	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:14066749A>G	ENST00000254337.6	+	4	413	c.392A>G	c.(391-393)gAc>gGc	p.D131G		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	131										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CTATTCCAGGACGAGGAGATC	0.632000													33	55					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	877138	877138	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:877138C>T	ENST00000312090.6	-	9	1546	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	MED16_ENST00000269814.4_Missense_Mutation_p.E466K|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.E466K|MED16_ENST00000589119.1_Missense_Mutation_p.E466K|MED16_ENST00000325464.1_Missense_Mutation_p.E466K			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	466					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCACCTCCAGCGGGTGG	0.672000													4	12					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26507021	26507021	+	Nonsense_Mutation	SNP	G	G	T	rs146587747	byFrequency	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:26507021G>T	ENST00000244513.6	+	4	886	c.820G>T	c.(820-822)Gaa>Taa	p.E274*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	274						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ACTATACAACGAAAGACCCAG	0.493000													63	190					1.48873e-21	1.57036e-21	1	1	0
IL17RC	84818	broad.mit.edu	37	3	9974368	9974368	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:9974368C>T	ENST00000295981.3	+	17	1895	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	IL17RC_ENST00000416074.2_Silent_p.L327L|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Silent_p.L488L|IL17RC_ENST00000403601.3_Silent_p.L488L|IL17RC_ENST00000383812.4_Silent_p.L473L|IL17RC_ENST00000455057.1_Silent_p.L456L	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	559						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCTCCTTCTCAAAAAGGATC	0.622000											OREG0015383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	22					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000801	11000801	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:11000801C>T	ENST00000324288.8	+	11	1585	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	484	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ATGAGGTTTTCAGCCACATCT	0.617000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								28	49					0	0	1	0	0
SNRPE	6635	broad.mit.edu	37	1	203834186	203834186	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:203834186G>A	ENST00000414487.2	+	4	207	c.162G>A	c.(160-162)atG>atA	p.M54I	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_Missense_Mutation_p.M14I	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	54					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGAGTATATGAACCTTGTAT	0.294000													62	64					0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58395312	58395312	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:58395312G>C	ENST00000463280.1	+	13	1354	c.1263G>C	c.(1261-1263)gaG>gaC	p.E421D	PXK_ENST00000479241.1_Missense_Mutation_p.E437D|PXK_ENST00000302779.5_Missense_Mutation_p.E437D|PXK_ENST00000356151.2_Missense_Mutation_p.E454D|PXK_ENST00000383715.4_Missense_Mutation_p.E437D|PXK_ENST00000536660.1_Missense_Mutation_p.E317D|PXK_ENST00000383716.3_Missense_Mutation_p.E421D|PXK_ENST00000484288.1_Missense_Mutation_p.E454D			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	454	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GATCTGAGGAGGAAAGAAAAA	0.423000													12	18					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95829982	95829982	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:95829982A>T	ENST00000376887.4	-	13	1820	c.1706T>A	c.(1705-1707)gTt>gAt	p.V569D	ABCC4_ENST00000536256.1_Missense_Mutation_p.V494D|ABCC4_ENST00000412704.1_Missense_Mutation_p.V569D|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.V569D	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	569	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTGTCTGCTAACTTCCGCATC	0.443000													24	24					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148925255	148925255	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:148925255T>C	ENST00000264613.6	-	5	1193	c.931A>G	c.(931-933)Att>Gtt	p.I311V		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	311	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATTGTGTCAATACGGTAGTTC	0.443000													43	42					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120782040	120782040	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:120782040C>G	ENST00000310396.5	+	16	2367	c.1900C>G	c.(1900-1902)Cct>Gct	p.P634A	CPED1_ENST00000423795.1_Missense_Mutation_p.P414A|CPED1_ENST00000450913.2_Missense_Mutation_p.P634A	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TGCCAGCTACCCTCTGGGCTT	0.393000													60	10					0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171773171	171773171	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:171773171C>T	ENST00000311601.5	-	12	1327	c.1157G>A	c.(1156-1158)gGc>gAc	p.G386D	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.G386D	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	386	SH3 3.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGCTGATGCCGTCTGGGAT	0.582000													28	50					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88959424	88959424	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:88959424G>A	ENST00000237596.2	+	4	931	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	289						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTCCTTATTGGATGGGCTGTA	0.488000													52	45					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3026647	3026647	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:3026647C>T	ENST00000397114.3	-	20	2263	c.1887G>A	c.(1885-1887)gtG>gtA	p.V629V	CARS_ENST00000401769.3_Silent_p.V652V|CARS_ENST00000397111.5_Silent_p.V639V|CARS_ENST00000278224.9_Silent_p.V639V|CARS_ENST00000380525.4_Silent_p.V722V|CARS_ENST00000470221.2_5'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	639					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		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)	CTACCAGTTTCACCACTGTGG	0.493000			T	ALK	ALCL								34	67					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37599316	37599316	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:37599316G>C	ENST00000276461.5	+	4	283	c.216G>C	c.(214-216)aaG>aaC	p.K72N	ERLIN2_ENST00000518586.1_Missense_Mutation_p.K72N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.K72N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.K72N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.K72N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.K72N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.K72N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	72					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGAGGTGAAGAATGTACCTT	0.433000													18	13					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140287465	140287465	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:140287465C>T	ENST00000275884.6	-	3	1528	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	DENND2A_ENST00000496613.1_Missense_Mutation_p.E371K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E371K|DENND2A_ENST00000492720.1_Missense_Mutation_p.E371K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	371										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGAATGTCTTCATAGACGTTC	0.542000													5	132					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152555041	152555041	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:152555041C>A	ENST00000367255.5	-	112	21188	c.20587G>T	c.(20587-20589)Gga>Tga	p.G6863*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.G6792*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.G1387*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.G6475*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.G6863*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.G6792*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6863					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTGATTTCCAGTACTCAGA	0.458000										HNSCC(10;0.0054)			16	11					4.14922e-12	4.27735e-12	1	1	0
TNFSF9	8744	broad.mit.edu	37	19	6531167	6531167	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:6531167G>A	ENST00000245817.3	+	1	158	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	40	Poly-Leu.				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						tgctgctgctgctcgctgccg	0.781000													17	15					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87883099	87883099	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:87883099G>A	ENST00000243662.6	-	2	309	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATAGACCCTCGTCATGTTTCC	0.368000													84	137					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661968	40661968	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:40661968C>T	ENST00000454349.2	+	5	1945	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Silent_p.H578H	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	578					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GAAGCAACCACAAAGCAGGAA	0.537000													32	29					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33233412	33233412	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:33233412C>T	ENST00000315596.10	+	6	805	c.619C>T	c.(619-621)Cat>Tat	p.H207Y		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	207					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GGTACCTGCTCATAAGGTGAG	0.368000													38	53					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33089227	33089227	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:33089227G>A	ENST00000306065.4	-	29	3135	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	993					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCAGCAGCATGAGATCCACTC	0.527000													70	94					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130068449	130068449	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:130068449G>A	ENST00000278742.5	+	14	2035	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	539	LDL-receptor class A 3.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTGCCTCTCGAAAAGCCAGC	0.657000													12	21					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044556	119044556	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:119044556G>A	ENST00000409109.1	+	5	1185	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NLRX1_ENST00000409991.1_Missense_Mutation_p.E200K|NLRX1_ENST00000409265.4_Missense_Mutation_p.E200K|NLRX1_ENST00000525863.1_Missense_Mutation_p.E200K|NLRX1_ENST00000292199.2_Missense_Mutation_p.E200K	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	200	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		CTTCTCCTGTGAGGACCTGTC	0.647000													25	26					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33248616	33248616	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:33248616C>T	ENST00000374617.4	-	11	1620	c.1264G>A	c.(1264-1266)Gtt>Att	p.V422I	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	422										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						ATGTTGACAACGTCACCCATT	0.657000													16	34					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19321658	19321658	+	Silent	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:19321658C>G	ENST00000261537.6	+	1	378	c.114C>G	c.(112-114)acC>acG	p.T38T	MIB1_ENST00000578646.1_Intron	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	38	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGTGGGCACCGTCCGGAGCT	0.677000													11	12					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74427039	74427039	+	Silent	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:74427039T>G	ENST00000361742.3	+	4	2713	c.1944T>G	c.(1942-1944)cgT>cgG	p.R648R	ISLR2_ENST00000565159.1_Silent_p.R648R|ISLR2_ENST00000435464.1_Silent_p.R648R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Silent_p.R648R|ISLR2_ENST00000419208.1_Silent_p.R648R|ISLR2_ENST00000445793.1_Silent_p.R648R|ISLR2_ENST00000565540.1_Silent_p.R648R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	648					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TCGACCCGCGTGCTTCGTACC	0.667000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45856356	45856356	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:45856356C>G	ENST00000391945.4	-	19	1893	c.1816G>C	c.(1816-1818)Gag>Cag	p.E606Q	ERCC2_ENST00000391944.3_Missense_Mutation_p.E528Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	606	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TCGATTCCCTCGGACACTTTG	0.642000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	21					0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201380552	201380552	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:201380552G>A	ENST00000361379.4	-	7	481	c.389C>T	c.(388-390)tCc>tTc	p.S130F	TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000367312.1_Missense_Mutation_p.S130F|TNNI1_ENST00000336092.4_Missense_Mutation_p.S130F	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	130					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTTGTGCTTGGAGCCCAGCAG	0.602000													15	34					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68062083	68062083	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:68062083G>A	ENST00000262210.5	+	16	2057	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	711	Poly-Gly.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGAACATATGAAGATAAAAG	0.353000													181	118					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	150997118	150997118	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:150997118G>A	ENST00000271620.3	+	4	523	c.367G>A	c.(367-369)Gag>Aag	p.E123K	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368935.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	123						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCAGTAGCAGAGGTGCTAGA	0.557000											OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	43					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1274062	1274062	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:1274062G>A	ENST00000447027.1	+	33	15136	c.15078G>A	c.(15076-15078)gaG>gaA	p.E5026E	MUC5B_ENST00000529681.1_Silent_p.E5023E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5023					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACCCTGGAGAACTGCACGG	0.632000													5	11					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395611	160395611	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:160395611C>T	ENST00000320767.2	+	1	664	c.477C>T	c.(475-477)ctC>ctT	p.L159L		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	159					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GCTGTGCCCTCACAGGGGAGG	0.512000													7	33					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20602093	20602093	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:20602093A>G	ENST00000399722.2	+	18	2807	c.2456A>G	c.(2455-2457)tAt>tGt	p.Y819C	RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000360790.5_Splice_Site_p.Y824C|RBBP8_ENST00000327155.5_Splice_Site_p.Y819C|RBBP8_ENST00000399725.2_Splice_Site_p.I787V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	819					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TATTATTAGTATTATGCAGAT	0.343000								Homologous recombination					40	79					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831840	40831840	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40831840G>A	ENST00000591765.1	-	2	1539	c.154C>T	c.(154-156)Cta>Tta	p.L52L	CCR10_ENST00000332438.4_Silent_p.L274L			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	274						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCAGCCAGTAGATCGGCAGTA	0.697000													9	5					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70706216	70706216	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:70706216T>C	ENST00000373585.3	+	15	2151	c.2044T>C	c.(2044-2046)Tgg>Cgg	p.W682R	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	682	Arg-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GAGGAGTGGCTGGTCAAGTGG	0.517000													30	29					0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	865893	865893	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:865893C>T	ENST00000381922.3	-	4	765	c.663G>A	c.(661-663)gcG>gcA	p.A221A	ANGPT4_ENST00000546022.1_Silent_p.A221A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	221					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCAGCAGCTTCGCCTTCTTGC	0.682000													12	8					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435876	7435876	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:7435876G>T	ENST00000319098.4	-	1	824	c.731C>A	c.(730-732)cCg>cAg	p.P244Q	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	244	Saposin B-type 2.				sphingolipid metabolic process	extracellular region|lysosome		p.Q245fs*11(1)		lung(4)	4						GAGCTCCTGCGGGGGGAGAAG	0.617000													33	32					3.76114e-14	3.90566e-14	1	1	0
CDC73	79577	broad.mit.edu	37	1	193172949	193172949	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:193172949C>G	ENST00000367435.3	+	11	1181	c.997C>G	c.(997-999)Cag>Gag	p.Q333E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	333					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CCGGAAGACTCAGACTCCTGC	0.343000													35	21					0	0	1	0	0
HOXC6	3223	broad.mit.edu	37	12	54423593	54423593	+	Silent	SNP	C	C	T	rs143618403		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:54423593C>T	ENST00000394331.3	+	3	2019	c.309C>T	c.(307-309)atC>atT	p.I103I	RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA|HOXC6_ENST00000243108.4_Silent_p.I185I	NM_153693.4	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	185					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCGACAGATCAAAATCTGGT	0.582000													47	70					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33320176	33320176	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:33320176G>A	ENST00000315596.10	+	24	2860	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	892					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTGGCACAAGAACCCTGTTA	0.378000													29	48					0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167038350	167038350	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:167038350G>A	ENST00000367868.3	-	3	567	c.224C>T	c.(223-225)tCa>tTa	p.S75L	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	75	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTTTTTGTTTGAAAACGGCCA	0.512000													11	27					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73396107	73396107	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:73396107G>A	ENST00000326291.6	+	6	1131	c.793G>A	c.(793-795)Gat>Aat	p.D265N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	265						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AGAGAACTATGATAAAGTCAA	0.363000													14	25					0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58077488	58077488	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:58077488G>A	ENST00000219271.3	+	9	2312	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	509	Hemopexin-like 3.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTGGCAGGGGATCCCTGCCT	0.602000													7	10					0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138644015	138644015	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:138644015T>A	ENST00000218099.2	+	8	1178	c.1171T>A	c.(1171-1173)Tat>Aat	p.Y391N	F9_ENST00000394090.2_Missense_Mutation_p.Y353N	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	391	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GTTCACCATCTATAACAACAT	0.453000													15	39					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40693107	40693107	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40693107G>C	ENST00000225927.2	+	5	1005	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	302						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GCTGATCAAAGAGTTTGGCAC	0.562000													10	196					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166504	19166504	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:19166504A>G	ENST00000375371.3	-	6	2130	c.2109T>C	c.(2107-2109)agT>agC	p.S703S		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	703					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGTGGTGGGACTGAGGCCCG	0.562000													28	34					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178354445	178354445	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:178354445T>G	ENST00000264595.2	-	8	990	c.863A>C	c.(862-864)aAa>aCa	p.K288T		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	288					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TGAAATCACTTTTTGGCAAGC	0.388000													69	22					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187713777	187713777	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:187713777C>T	ENST00000295131.2	-	1	120	c.81G>A	c.(79-81)ctG>ctA	p.L27L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	27					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGCTGCTACTCAGCGCCTGGT	0.607000													15	14					0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2310414	2310414	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:2310414C>T	ENST00000609667.1	-	3	437	c.358G>A	c.(358-360)Gac>Aac	p.D120N																								AGAGCCCAGTCGAGCTCTGCA	0.562000													6	24					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70071297	70071297	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:70071297C>T	ENST00000282570.3	+	6	978	c.727C>T	c.(727-729)Cac>Tac	p.H243Y		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	243					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TTTGATGACTCACCAGAATGT	0.254000													28	36					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5632865	5632865	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:5632865C>T	ENST00000382361.3	+	1	412	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	FSCN1_ENST00000340250.6_Missense_Mutation_p.R79C	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	100					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGACGACGGTCGCTGGTCGCT	0.716000													12	5					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90013866	90013866	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:90013866G>A	ENST00000428670.3	-	11	2195	c.1739C>T	c.(1738-1740)tCt>tTt	p.S580F	ATP2B1_ENST00000261173.2_Missense_Mutation_p.S580F|ATP2B1_ENST00000359142.3_Missense_Mutation_p.S580F|ATP2B1_ENST00000393164.2_Missense_Mutation_p.S323F|ATP2B1_ENST00000348959.3_Missense_Mutation_p.S580F			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	580					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTTCCTAACAGAATTGAAGGT	0.368000													29	41					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50474421	50474421	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:50474421T>C	ENST00000228468.4	+	9	1731	c.1346T>C	c.(1345-1347)gTg>gCg	p.V449A	ASIC1_ENST00000552438.1_Intron|ASIC1_ENST00000447966.2_Intron	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	433					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GGGCATGGCGTGGCTCCCTAT	0.552000													7	22					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002585	30002585	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:30002585C>T	ENST00000279394.3	+	19	3249	c.2846C>T	c.(2845-2847)tCt>tTt	p.S949F		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	838	Leu-rich.				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			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTTCCCCGTTCTGGGGCACAC	0.711000													13	20					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115607065	115607065	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:115607065A>C	ENST00000361384.2	-	3	3072	c.2155T>G	c.(2155-2157)Tat>Gat	p.Y719D	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Y719D	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	719					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACCACGCCATACTGAAAGGCA	0.378000								Other identified genes with known or suspected DNA repair function					21	24					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	667787	667787	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:667787G>A	ENST00000266383.5	+	18	2734	c.2721G>A	c.(2719-2721)gtG>gtA	p.V907V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	907						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCCATGGTGATGAGGCTGC	0.577000													15	19					0	0	1	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342882	16342882	+	RNA	SNP	T	T	C	rs11540320		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:16342882T>C	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA	NR_027667.1																						GTCTAATGTCTATCTGACCGC	0.448000													71	74					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106974295	106974295	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:106974295T>C	ENST00000369701.3	+	18	2698	c.2471T>C	c.(2470-2472)cTc>cCc	p.L824P	SORCS3_ENST00000369699.4_Missense_Mutation_p.L110P	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	824						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCTCGGGGCCTCCATGTGGTG	0.582000													3	39					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67450396	67450396	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:67450396T>G	ENST00000357692.2	+	15	1660	c.1403T>G	c.(1402-1404)cTt>cGt	p.L468R	MIER1_ENST00000371018.3_Intron|MIER1_ENST00000355356.3_Missense_Mutation_p.L451R|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.L504R|MIER1_ENST00000371016.1_Intron	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	475					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ACAGATAACCTTACCACTGAC	0.378000													40	38					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132172941	132172941	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:132172941C>T	ENST00000260818.6	+	9	1120	c.872C>T	c.(871-873)cCa>cTa	p.P291L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	291							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCAGAAAATCCACAACTTTTT	0.264000													24	56					0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119588231	119588231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:119588231G>A	ENST00000369426.5	-	3	406	c.403C>T	c.(403-405)Cga>Tga	p.R135*	WARS2_ENST00000235521.4_Nonsense_Mutation_p.R135*|WARS2_ENST00000537870.1_Nonsense_Mutation_p.R41*			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	135					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TGTTGTAATCGAGGTAGTCTG	0.383000													23	28					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179047915	179047915	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:179047915T>G	ENST00000356731.5	-	3	1910	c.375A>C	c.(373-375)gaA>gaC	p.E125D	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.E125D|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.E125D|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.E125D|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.E125D			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	125	RRM 2.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						GAACAATTTCTTCCTTGCTAC	0.423000													28	42					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33318774	33318774	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:33318774G>C	ENST00000378526.4	+	6	1259	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	LIG3_ENST00000262327.5_Missense_Mutation_p.E376Q	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	376					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TACCATCCAGGAAGTGGATGA	0.562000								Other BER factors					35	35					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86682259	86682259	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:86682259G>A	ENST00000409556.1	+	6	870	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	KDM3A_ENST00000312912.5_Missense_Mutation_p.E169K|KDM3A_ENST00000409064.1_Missense_Mutation_p.E169K|KDM3A_ENST00000542128.1_Missense_Mutation_p.E117K			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	169					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TGTCAGTAAAGAATTTCAAGC	0.328000													9	16					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106804615	106804615	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:106804615C>T	ENST00000228347.4	+	12	1200	c.978C>T	c.(976-978)ttC>ttT	p.F326F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Silent_p.F268F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	326					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTAAGGAATTCAATTTCCGAG	0.333000													16	27					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27097745	27097745	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:27097745G>A	ENST00000324856.7	+	12	3705	c.3334G>A	c.(3334-3336)Gac>Aac	p.D1112N	ARID1A_ENST00000374152.2_Missense_Mutation_p.D729N|ARID1A_ENST00000457599.2_Missense_Mutation_p.D1112N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1112					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		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)		ACGGGGAGAAGACCCTCCCCC	0.537000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	22					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	52751241	52751241	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:52751241G>A	ENST00000373985.1	+	1	124	c.67G>A	c.(67-69)Gag>Aag	p.E23K	PRKG1_ENST00000401604.2_Missense_Mutation_p.E35K	NM_001098512.2	NP_001091982.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	35	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGAAATTCAGGAGCTGAAGAG	0.592000													7	8					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139090824	139090824	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:139090824G>A	ENST00000371746.3	-	4	669	c.551C>T	c.(550-552)tCg>tTg	p.S184L	LHX3_ENST00000371748.5_Missense_Mutation_p.S179L	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	179					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CGGCTTGGGCGAGGTGTTGTA	0.731000													3	1					0	0	1	0	0
GPR160	26996	broad.mit.edu	37	3	169802272	169802272	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:169802272C>T	ENST00000355897.5	+	4	1120	c.512C>T	c.(511-513)tCt>tTt	p.S171F		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	171						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AATGCTTATTCTCGTCACTGT	0.373000													19	17					0	0	1	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65862542	65862542	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:65862542G>C	ENST00000261875.5	+	8	939		c.e8+1		PTPLAD1_ENST00000566074.1_Splice_Site|PTPLAD1_ENST00000569894.1_Splice_Site|PTPLAD1_ENST00000442729.2_Splice_Site|PTPLAD1_ENST00000565299.1_Splice_Site|PTPLAD1_ENST00000566511.1_Splice_Site|PTPLAD1_ENST00000568793.1_Splice_Site|PTPLAD1_ENST00000562901.1_Splice_Site	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1						activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AAATTTTCAGGTGGGTAGAAA	0.398000													7	17					0	0	1	0	0
ADH5	128	broad.mit.edu	37	4	100009842	100009842	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:100009842C>T	ENST00000296412.8	-	1	60	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	4					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	GGCCCTACCTCGTTCGCCATG	0.716000													28	44					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46805515	46805515	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:46805515A>G	ENST00000290295.7	-	1	1025	c.441T>C	c.(439-441)tcT>tcC	p.S147S		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	147					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						TCTGCACCACAGACACGTCCA	0.612000													64	64					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44691308	44691308	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:44691308G>A	ENST00000290231.6	-	8	1535	c.1371C>T	c.(1369-1371)gcC>gcT	p.A457A		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGGTGTTTCCGGCAGCAACCG	0.547000													92	25					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085239	152085239	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:152085239C>T	ENST00000368804.1	-	2	453	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	152					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTGCTCCTCTCCCTCAGCT	0.587000													84	91					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3257015	3257015	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:3257015A>T	ENST00000520002.1	-	17	2861	c.2306T>A	c.(2305-2307)gTc>gAc	p.V769D	CSMD1_ENST00000537824.1_Missense_Mutation_p.V768D|CSMD1_ENST00000602723.1_Missense_Mutation_p.V769D|CSMD1_ENST00000539096.1_Missense_Mutation_p.V768D|CSMD1_ENST00000400186.3_Missense_Mutation_p.V769D|CSMD1_ENST00000542608.1_Missense_Mutation_p.V768D|CSMD1_ENST00000602557.1_Missense_Mutation_p.V769D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	769	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGCAAAATGACTCCGCTGGA	0.403000													19	6					0	0	1	0	0
OLFML3	56944	broad.mit.edu	37	1	114524083	114524083	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:114524083A>G	ENST00000369551.1	+	4	1141	c.853A>G	c.(853-855)Aca>Gca	p.T285A	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Missense_Mutation_p.T305A|OLFML3_ENST00000393300.2_Missense_Mutation_p.T285A			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	305	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)		AGATCCACAGACACTGGACAC	0.552000													25	35					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144895056	144895056	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:144895056C>G	ENST00000356994.2	-	8	724	c.718G>C	c.(718-720)Ggc>Cgc	p.G240R	SCRIB_ENST00000320476.3_Missense_Mutation_p.G240R|SCRIB_ENST00000377533.3_Missense_Mutation_p.G159R	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	240	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACCAGCCCGCCGAGCTCAGCA	0.687000													5	31					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104370782	104370782	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:104370782A>C	ENST00000392872.3	+	2	344	c.110A>C	c.(109-111)gAa>gCa	p.E37A	TDG_ENST00000266775.9_Missense_Mutation_p.E33A|TDG_ENST00000544861.1_Intron	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	37					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GTTGTGAATGAACAGCAAATG	0.443000								Base excision repair (BER), DNA glycosylases					21	36					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33000425	33000425	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:33000425T>G	ENST00000374864.4	+	5	530	c.317T>G	c.(316-318)tTa>tGa	p.L106*	ITCH_ENST00000262650.6_Nonsense_Mutation_p.L106*|ITCH_ENST00000535650.1_5'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	106					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TATGAAACATTAAAGTCAAAC	0.328000													38	11					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49218156	49218156	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:49218156G>A	ENST00000301050.2	+	4	606	c.407G>A	c.(406-408)aGg>aAg	p.R136K	CACNB3_ENST00000540990.1_Splice_Site_p.R123K|CACNB3_ENST00000547230.1_Splice_Site_p.R95K|CACNB3_ENST00000547392.1_Splice_Site_p.R136K|CACNB3_ENST00000536187.2_Splice_Site_p.R135K|CACNB3_ENST00000550168.1_3'UTR	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	136					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CAGAAGGCCAGGTGAGAGTTG	0.587000													4	3					0	0	1	0	0
PSMC5	5705	broad.mit.edu	37	17	61907257	61907257	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:61907257C>T	ENST00000310144.6	+	4	520	c.212C>T	c.(211-213)tCc>tTc	p.S71F	FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000581882.1_Missense_Mutation_p.S63F|PSMC5_ENST00000375812.4_Missense_Mutation_p.S63F|PSMC5_ENST00000580864.1_Missense_Mutation_p.S63F	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	71					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GAGCAGGGCTCCTATGTGGGG	0.552000													31	36					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91142898	91142898	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:91142898C>T	ENST00000357056.2	-	9	1242	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	TTC7B_ENST00000328459.6_Missense_Mutation_p.G374E			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	374							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GCCTCTTCTTCCAAGAGCAAT	0.557000													22	4					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48278869	48278869	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:48278869G>A	ENST00000225964.5	-	1	124	c.6C>T	c.(4-6)ttC>ttT	p.F2F		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	2					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCACAAAGCTGAACATGTCTA	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	14					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715299	68715299	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:68715299A>G	ENST00000325631.5	+	2	161	c.87A>G	c.(85-87)agA>agG	p.R29R	MARVELD2_ENST00000413223.2_Silent_p.R29R	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	29					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CCACCATAAGAACCCACCCAA	0.532000													19	27					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31938785	31938785	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:31938785C>A	ENST00000375349.3	-	3	907	c.496G>T	c.(496-498)Gag>Tag	p.E166*	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_Nonsense_Mutation_p.E166*|DXO_ENST00000375356.3_Nonsense_Mutation_p.E166*					decapping exoribonuclease	166																	TTCGGTGTCTCCACTTCACTC	0.592000													51	60					2.9001e-28	3.06482e-28	1	1	0
CORO6	84940	broad.mit.edu	37	17	27943797	27943797	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:27943797G>A	ENST00000345068.5	-	8	1140	c.927C>T	c.(925-927)ttC>ttT	p.F309F	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'UTR|CORO6_ENST00000456796.3_Silent_p.F75F|CORO6_ENST00000584969.1_Silent_p.F309F|CORO6_ENST00000388767.3_Silent_p.F309F|CORO6_ENST00000580212.1_Silent_p.F269F|CORO6_ENST00000445145.2_Silent_p.F309F			Q6QEF8	CORO6_HUMAN	coronin 6	309					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CTTTGCTGCTGAACGTGTTCA	0.602000													62	69					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186187	95186187	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:95186187A>T	ENST00000027335.3	-	7	745	c.621T>A	c.(619-621)taT>taA	p.Y207*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.Y207*|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	207	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACCAGATTATAGGAAGGAT	0.443000													32	61					0	0	1	0	0
ZNF784	147808	broad.mit.edu	37	19	56133985	56133985	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:56133985G>A	ENST00000325351.4	-	2	143	c.104C>T	c.(103-105)cCt>cTt	p.P35L	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGGTGTGCCAGGCCGGCAGTC	0.622000													3	7					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27463169	27463169	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:27463169C>T	ENST00000295736.5	-	9	1411	c.1341G>A	c.(1339-1341)gtG>gtA	p.V447V	SLC4A7_ENST00000425128.2_Silent_p.V439V|SLC4A7_ENST00000440156.1_Silent_p.V443V|SLC4A7_ENST00000435667.2_Silent_p.V332V|SLC4A7_ENST00000455077.1_Silent_p.V328V|SLC4A7_ENST00000446700.1_Silent_p.V439V|SLC4A7_ENST00000454389.1_Silent_p.V456V|SLC4A7_ENST00000445684.1_Silent_p.V443V|SLC4A7_ENST00000428386.1_Silent_p.V323V|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000437179.1_Silent_p.V328V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	447						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAGCCAGTCTCACAAATGCAA	0.438000													17	38					0	0	1	0	0
INO80B	83444	broad.mit.edu	37	2	74682275	74682275	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:74682275C>T	ENST00000233331.7	+	1	126	c.32C>T	c.(31-33)tCt>tTt	p.S11F	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_Missense_Mutation_p.S11F	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	11					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GGGAGCACCTCTGGGGCTATG	0.582000													29	51					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54912346	54912346	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:54912346G>A	ENST00000284061.3	+	2	370	c.190G>A	c.(190-192)Gac>Aac	p.D64N	DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000572810.1_Missense_Mutation_p.D64N	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	64					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CGGGTGGCGCGACACGGACCT	0.677000													46	42					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243419530	243419530	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:243419530C>T	ENST00000366541.3	+	1	173	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.R19W|SDCCAG8_ENST00000343783.6_5'UTR|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R19W	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	19					establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCAGTATCAACGGAGTCTCCG	0.617000													21	20					0	0	1	0	0
ABCD4	5826	broad.mit.edu	37	14	74759322	74759322	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:74759322G>A	ENST00000356924.4	-	10	1103	c.960C>T	c.(958-960)ctC>ctT	p.L320L	AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000298816.7_Silent_p.L216L	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	320	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		AGCAGCTGATGAGGTAGATGC	0.597000													11	3					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44144948	44144948	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:44144948C>T	ENST00000262419.6	-	5	2089	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	KANSL1_ENST00000572904.1_Missense_Mutation_p.G540E|KANSL1_ENST00000574590.1_Missense_Mutation_p.G540E|KANSL1_ENST00000575318.1_Missense_Mutation_p.G540E|KANSL1_ENST00000432791.1_Missense_Mutation_p.G540E|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	540						MLL1 complex	protein binding										TCTGAGTGCTCCACATGATTT	0.393000													42	36					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45927174	45927174	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:45927174G>A	ENST00000348697.2	+	5	661	c.514G>A	c.(514-516)Gag>Aag	p.E172K	FBLN1_ENST00000402984.3_Missense_Mutation_p.E210K|FBLN1_ENST00000327858.6_Missense_Mutation_p.E172K|FBLN1_ENST00000340923.5_Missense_Mutation_p.E172K|FBLN1_ENST00000262722.7_Missense_Mutation_p.E172K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E172K			P23142	FBLN1_HUMAN	fibulin 1	172					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGAGGAACAAGAGGACCCATA	0.478000													12	47					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77991794	77991794	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:77991794T>G	ENST00000361507.4	-	2	314	c.229A>C	c.(229-231)Aag>Cag	p.K77Q	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.K39Q	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	77	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCTCCTTCTTGTTAAAGGTC	0.468000													40	55					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144892446	144892446	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:144892446C>T	ENST00000369351.3	-	22	3067	c.2959G>A	c.(2959-2961)Gag>Aag	p.E987K	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TATCAGACCTCAGAAGGGCTG	0.493000			T	PDGFRB	MPD								10	37					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96051172	96051172	+	Nonsense_Mutation	SNP	C	C	T	rs142696562		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:96051172C>T	ENST00000515059.1	+	9	1028	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	BMPR1B_ENST00000394931.1_Nonsense_Mutation_p.Q249*|BMPR1B_ENST00000264568.4_Nonsense_Mutation_p.Q249*|BMPR1B_ENST00000440890.2_Nonsense_Mutation_p.Q279*	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	249	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGAAATATATCAGACAGTGTT	0.443000													16	34					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33923031	33923031	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:33923031C>T	ENST00000379238.1	-	27	3122	c.3005G>A	c.(3004-3006)gGa>gAa	p.G1002E	UBAP2_ENST00000539807.1_Splice_Site_p.G757E|UBAP2_ENST00000379239.4_Splice_Site_p.G735E|UBAP2_ENST00000449054.1_Splice_Site_p.G1002E|UBAP2_ENST00000360802.1_Splice_Site_p.G1002E|UBAP2_ENST00000379235.1_Splice_Site_p.G241E			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	1002										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CACTGATACTCCTAGGAGGAA	0.532000													20	21					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25176035	25176035	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:25176035C>G	ENST00000409280.1	-	10	1637	c.1329G>C	c.(1327-1329)tgG>tgC	p.W443C	C7orf31_ENST00000283905.3_Missense_Mutation_p.W443C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	443										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ACTGCTGTCTCCAGTATAAAT	0.368000													42	199					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221635	118221635	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:118221635T>C	ENST00000402510.2	-	11	3557	c.3558A>G	c.(3556-3558)tcA>tcG	p.S1186S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1186										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGGAATCGGTGATTTGTTAG	0.473000													18	2					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50709818	50709818	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:50709818G>A	ENST00000300590.3	-	3	317	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	SNX20_ENST00000423026.2_Silent_p.L49L|SNX20_ENST00000330943.4_Silent_p.L49L	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	49					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TTGGAGCTCAGGCCACTGTGT	0.562000													24	33					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57080766	57080766	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:57080766C>T	ENST00000316981.3	-	4	542	c.63G>A	c.(61-63)ggG>ggA	p.G21G	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Silent_p.G21G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	21	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GCTTACGTTTCCCTGAAGGGA	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								37	28					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310276	56310276	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:56310276G>A	ENST00000528616.2	-	1	481	c.458C>T	c.(457-459)tCa>tTa	p.S153L		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						GAGTCCATCTGAGAAGCCATA	0.517000													13	12					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38857473	38857473	+	Silent	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:38857473C>G	ENST00000264651.2	-	3	830	c.774G>C	c.(772-774)ctG>ctC	p.L258L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	258	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGGTCATAGTCAGGTCATCCA	0.542000													29	39					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133806027	133806027	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:133806027G>C	ENST00000321016.8	-	6	972	c.742C>G	c.(742-744)Ctc>Gtc	p.L248V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L248V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	248	Ig-like 3.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGGCAGGTGAGCAGAGCATCC	0.592000													11	12					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19961389	19961389	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:19961389C>G	ENST00000295824.9	-	3	1093	c.932G>C	c.(931-933)aGa>aCa	p.R311T	EFHB_ENST00000344838.4_Missense_Mutation_p.R181T|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	311					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATCATTTGCTCTTCCGTAAAA	0.343000													25	32					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007337	8007337	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:8007337G>C	ENST00000344293.5	+	3	2070	c.1864G>C	c.(1864-1866)Gat>Cat	p.D622H		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	622	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						taagaagaaagatagagagaa	0.363000													25	31					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42462407	42462407	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:42462407C>T	ENST00000262407.5	-	7	739	c.708G>A	c.(706-708)tcG>tcA	p.S236S	ITGA2B_ENST00000377068.3_Intron|ITGA2B_ENST00000353281.4_Silent_p.S236S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	236					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGCGGTAACTCGAGAAAATAT	0.612000													37	78					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595242	55595242	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:55595242C>T	ENST00000378397.1	+	1	548	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GATCTACCCCCTCTCCTAAGT	0.458000										HNSCC(27;0.073)			44	97					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19259528	19259528	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:19259528G>A	ENST00000527884.1	-	3	399	c.167C>T	c.(166-168)cCg>cTg	p.P56L	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.P56L	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	56					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGTGTCCACGGCTCTCCCTG	0.512000													43	59					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42643844	42643844	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:42643844G>A	ENST00000372901.1	+	39	4560	c.4302G>A	c.(4300-4302)ggG>ggA	p.G1434G	UBR2_ENST00000372883.3_Intron|UBR2_ENST00000372899.1_Silent_p.G1434G			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1434					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATTTTTCAGGGATCAGCCTTG	0.473000													90	84					0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76171500	76171500	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:76171500G>A	ENST00000267938.4	+	8	1178	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.E266K|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.E231K|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.E250K	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	266					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AGAAGGCATAGAATATATTTT	0.333000													32	35					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2639919	2639919	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:2639919G>A	ENST00000382100.3	+	3	619	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	VLDLR_ENST00000382099.2_Missense_Mutation_p.R88Q|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		LDL-receptor class A 2.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTTCCCAGCCGATGGAAGTGT	0.453000													4	93					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284213	223284213	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:223284213C>A	ENST00000540964.1	-	4	2622	c.2161G>T	c.(2161-2163)Gac>Tac	p.D721Y	TLR5_ENST00000342210.6_Missense_Mutation_p.D721Y			O60602	TLR5_HUMAN	toll-like receptor 5	721	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTGTTTTGGTCACTGTATTGA	0.428000													5	53					0.184627	0.184627	1	1	0
NPAT	4863	broad.mit.edu	37	11	108032376	108032376	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:108032376G>A	ENST00000278612.8	-	17	3542	c.3437C>T	c.(3436-3438)tCa>tTa	p.S1146L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1146					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTTCTTTTCTGATTGAGTTTC	0.373000													34	71					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55663041	55663041	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:55663041C>T	ENST00000373965.2	-	27	3878	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	PCDH15_ENST00000361849.3_Missense_Mutation_p.E1155K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1155K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1162K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1160K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1084K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1118K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1155K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1155K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E766K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1133K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1155	Cadherin 11.				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.E1160K(2)|p.E1155K(1)		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)				CTTGCATCTTCAGATACACCT	0.368000										HNSCC(58;0.16)			38	37					0	0	1	0	0
FKBP1A	2280	broad.mit.edu	37	20	1352810	1352810	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:1352810G>A	ENST00000400137.4	-	4	436	c.273C>T	c.(271-273)atC>atT	p.I91I	FKBP1A_ENST00000381724.3_Silent_p.I86I|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000381719.3_Silent_p.I91I|SDCBP2-AS1_ENST00000609285.1_RNA|FKBP1A_ENST00000381715.1_Silent_p.I86I|FKBP1A_ENST00000439640.2_Silent_p.I75I|SDCBP2-AS1_ENST00000446423.1_RNA	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa	91	PPIase FKBP-type.			I -> V (in Ref. 6; CAG28541).	'de novo' protein folding|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|SMAD protein complex assembly|T cell activation|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	activin binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|SMAD binding|type I transforming growth factor beta receptor binding			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	GTGGTGGGATGATGCCTGGGT	0.498000													34	26					0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18084833	18084833	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:18084833G>T	ENST00000222249.9	+	3	455	c.136G>T	c.(136-138)Gtg>Ttg	p.V46L		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CCAGGTGGTAGTGGCCAAGAG	0.746000													6	14					0.00116845	0.00117466	1	1	0
C2orf47	79568	broad.mit.edu	37	2	200820839	200820839	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:200820839G>A	ENST00000295079.2	+	2	640	c.318G>A	c.(316-318)caG>caA	p.Q106Q	C2orf47_ENST00000392290.1_Silent_p.Q106Q	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	106						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						agcagcaccagaaaaccaagA	0.572000													19	16					0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185067233	185067233	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:185067233A>G	ENST00000367510.3	+	5	782	c.494A>G	c.(493-495)gAa>gGa	p.E165G	RNF2_ENST00000367509.4_Missense_Mutation_p.E93G	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	165	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CAACAGATTGAAAATGGTAGT	0.418000													8	65					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19413194	19413194	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:19413194G>A	ENST00000247001.5	-	7	1114	c.767C>T	c.(766-768)tCa>tTa	p.S256L	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	256					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CTCTGGGGGTGAAACTTTAAG	0.527000													44	61					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39875830	39875830	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:39875830A>G	ENST00000260356.5	+	4	805	c.640A>G	c.(640-642)Aat>Gat	p.N214D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	214	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGTGCTGCAGAATGTGAGGTT	0.522000											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	52					0	0	1	0	0
RHPN1	114822	broad.mit.edu	37	8	144461997	144461997	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:144461997A>G	ENST00000289013.6	+	9	1046		c.e9-1			NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1						signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ATCCACCGGCAGGTGGCAGCC	0.672000													11	8					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36129146	36129146	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:36129146C>T	ENST00000540320.1	+	44	7363	c.6829C>T	c.(6829-6831)Cga>Tga	p.R2277*	NBEA_ENST00000537702.1_Nonsense_Mutation_p.R70*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2274*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.R2277*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2277*			Q8NFP9	NBEA_HUMAN	neurobeachin	2277	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGCCACTCCTCGACAGCTTTA	0.323000													12	11					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35733232	35733232	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:35733232G>A	ENST00000353704.2	+	3	736	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	124					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTGTAGAAAAGAGGGGACCCA	0.507000													11	35					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100079005	100079005	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:100079005G>A	ENST00000258428.3	-	3	362	c.134C>T	c.(133-135)tCa>tTa	p.S45L	REV1_ENST00000393445.3_Missense_Mutation_p.S45L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	45	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.S45*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTGTAGATGAAGTCCCATC	0.378000								Direct reversal of damage					37	76					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44152433	44152433	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:44152433G>A	ENST00000223357.3	+	18	2799	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R	AEBP1_ENST00000450684.2_Missense_Mutation_p.G407R	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	832	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCCTACCGCGGAGGCTGCCA	0.677000													44	11					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83379827	83379827	+	Splice_Site	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:83379827T>G	ENST00000549919.1	+	9	3857		c.e9+2		TMTC2_ENST00000321196.3_Splice_Site			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2							endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GCTCTAACAGTGAGTAACCGC	0.458000													24	32					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627000													124	55					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6749716	6749716	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:6749716C>T	ENST00000230859.6	+	9	1012	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	295					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GATTGACTACCGGAGGTGGAT	0.488000													44	125					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205767886	205767886	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:205767886T>G	ENST00000367137.3	-	6	1769	c.755A>C	c.(754-756)aAc>aCc	p.N252T	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	252						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGTGGCCACGTTGTCTGGGTT	0.577000													40	26					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8618073	8618073	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:8618073C>T	ENST00000338257.8	-	6	721	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	152	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCGAAGGCCTCGAGCAGCGGG	0.587000													36	102					0	0	1	0	0
CARD18	59082	broad.mit.edu	37	11	105009571	105009571	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:105009571G>C	ENST00000530950.1	-	2	241	c.242C>G	c.(241-243)cCt>cGt	p.P81R	CARD18_ENST00000526823.1_Missense_Mutation_p.P42R|CARD18_ENST00000532895.1_Missense_Mutation_p.P42R	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	81	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						GGCAAGTTGAGGGTCTTCTTC	0.413000													48	87					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98989518	98989518	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:98989518A>G	ENST00000188376.5	+	2	525	c.171A>G	c.(169-171)gaA>gaG	p.E57E	SLC25A3_ENST00000549338.1_Silent_p.E57E|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000552981.1_Silent_p.E57E|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000401722.3_Silent_p.E57E|SLC25A3_ENST00000547534.1_Silent_p.E57E|SLC25A3_ENST00000548847.1_Silent_p.E57E	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	58					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		ACAGTTGTGAATTTGGCTCCG	0.433000													43	63					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7976326	7976326	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:7976326G>A	ENST00000545011.1	+	9	1133	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	MAP2K7_ENST00000397979.3_Silent_p.E314E|MAP2K7_ENST00000397983.3_Silent_p.E330E|MAP2K7_ENST00000397981.3_Silent_p.E321E			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	314	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCCAGGTGGAGCTGGCAACAG	0.607000													13	36					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763694	110763694	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:110763694T>C	ENST00000451085.1	+	4	1912	c.866T>C	c.(865-867)tTg>tCg	p.L289S	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L289S|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L289S|IMMP2L_ENST00000415362.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	289						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTAAAAGAGTTGGGGATAAAT	0.328000													22	48					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84212731	84212731	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:84212731G>A	ENST00000567759.1	-	14	2608	c.2426C>T	c.(2425-2427)tCa>tTa	p.S809L	TAF1C_ENST00000378541.4_Missense_Mutation_p.S809L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S715L|TAF1C_ENST00000566732.1_Missense_Mutation_p.S783L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S477L|TAF1C_ENST00000541676.1_Missense_Mutation_p.S716L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	809					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCGCTGCTCTGATGGGACGCC	0.677000													11	9					0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11893792	11893792	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:11893792G>A	ENST00000322748.3	-	6	1257	c.653C>T	c.(652-654)cCa>cTa	p.P218L	ZNF18_ENST00000454073.3_Missense_Mutation_p.P218L|ZNF18_ENST00000580306.2_Missense_Mutation_p.P218L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	218	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGGTGCTGCTGGGAGCAGTGA	0.527000													3	9					0	0	1	0	0
PRUNE	58497	broad.mit.edu	37	1	151006326	151006326	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:151006326G>A	ENST00000271620.3	+	8	1134	c.978G>A	c.(976-978)ctG>ctA	p.L326L	PRUNE_ENST00000368937.1_Silent_p.L91L|PRUNE_ENST00000271619.8_Silent_p.L114L|PRUNE_ENST00000368936.1_Silent_p.L144L|PRUNE_ENST00000368934.1_Silent_p.L91L|PRUNE_ENST00000368935.1_Silent_p.L41L	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	326						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTGAAGCTGACCCCTGCCT	0.522000													34	58					0	0	1	0	0
C6orf136	221545	broad.mit.edu	37	6	30620653	30620653	+	Silent	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:30620653A>C	ENST00000293604.6	+	6	1645	c.1452A>C	c.(1450-1452)tcA>tcC	p.S484S	C6orf136_ENST00000376471.4_Silent_p.S169S|C6orf136_ENST00000376473.5_Silent_p.S303S|C6orf136_ENST00000528347.2_Silent_p.S160S	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	303										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGGGGCTGTCAGAGCCAGAAC	0.567000													39	49					0	0	1	0	0
DNAJC17	55192	broad.mit.edu	37	15	41071499	41071499	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:41071499C>T	ENST00000220496.4	-	4	247	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	73	J.				protein folding		heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTGACCTTGTCATATGCAGCC	0.547000													25	41					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209192962	209192962	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:209192962C>T	ENST00000264380.4	+	21	3835	c.3677C>T	c.(3676-3678)tCt>tTt	p.S1226F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1226					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.S1226C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGCAGCTCTTCTGCCCAGTCC	0.453000													32	20					0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99926306	99926306	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:99926306G>A	ENST00000301981.3	+	10	1343	c.1103G>A	c.(1102-1104)tGa>tAa	p.*368*	LRRC28_ENST00000331450.5_Silent_p.*94*|LRRC28_ENST00000447360.2_3'UTR|LRRC28_ENST00000422500.2_Silent_p.*299*|LRRC28_ENST00000558879.1_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	0										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CTGCTGAGTTGATAAACACTC	0.532000													127	106					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991332	72991332	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:72991332C>T	ENST00000268489.5	-	2	3385	c.2713G>A	c.(2713-2715)Gct>Act	p.A905T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	905					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCACCTAGAGCAGGCGTCATG	0.547000													24	29					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440655	99440655	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:99440655G>A	ENST00000287042.4	+	2	798	c.448G>A	c.(448-450)Gag>Aag	p.E150K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E150K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	150						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TTCCTTCGATGAGATCCTTGC	0.612000													18	57					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113051918	113051918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:113051918C>T	ENST00000369684.4	+	1	519	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	WNT2B_ENST00000256640.5_Intron|WNT2B_ENST00000369686.5_Intron	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	12					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAGCTGCGCAGCTCCCGCT	0.746000													5	2					0	0	1	0	0
CHST3	9469	broad.mit.edu	37	10	73766945	73766945	+	Silent	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:73766945G>C	ENST00000373115.4	+	3	593	c.156G>C	c.(154-156)ctG>ctC	p.L52L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	52					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CAGACAAGCTGAAGCAGATTC	0.562000													14	17					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135347	46135347	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:46135347A>C	ENST00000371383.2	-	3	913	c.653T>G	c.(652-654)cTc>cGc	p.L218R	ENPP5_ENST00000230565.3_Missense_Mutation_p.L218R			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	218						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CATTTGTATGAGATATCCTAA	0.443000													29	155					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027780	87027780	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:87027780G>A	ENST00000398399.2	-	2	662	c.299C>T	c.(298-300)tCa>tTa	p.S100L	VGLL3_ENST00000383698.3_Missense_Mutation_p.S100L	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	100					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)		ATCCACTACTGACCCAATGTC	0.512000													34	31					0	0	1	0	0
UBE2N	7334	broad.mit.edu	37	12	93805024	93805024	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:93805024C>T	ENST00000318066.2	-	2	459	c.82G>A	c.(82-84)Gat>Aat	p.D28N	UBE2N_ENST00000549833.1_5'UTR|UBE2N_ENST00000550657.1_Missense_Mutation_p.D28N|UBE2N_ENST00000552442.1_Missense_Mutation_p.D28N	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	28					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						TTGCTCTCATCTGGTTCGGCT	0.453000								Direct reversal of damage;Rad6 pathway					45	63					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34263154	34263154	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:34263154C>G	ENST00000379166.2	-	9	1579	c.1460G>C	c.(1459-1461)cGa>cCa	p.R487P	KIF24_ENST00000345050.2_Missense_Mutation_p.R353P|KIF24_ENST00000402558.2_Missense_Mutation_p.R487P|KIF24_ENST00000379174.3_Missense_Mutation_p.R353P	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	487					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATCCAGTGCTCGGATACATTC	0.458000													4	12					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101146441	101146441	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:101146441A>G	ENST00000428847.2	-	4	2142	c.1826T>C	c.(1825-1827)cTa>cCa	p.L609P		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	609					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGAGCTTGCTAGAGGTGTCAA	0.388000													45	136					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24544626	24544626	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:24544626T>C	ENST00000336812.4	-	7	1428	c.1272A>G	c.(1270-1272)gcA>gcG	p.A424A		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	424	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AAGACGTCTCTGCTATGTTAG	0.323000													56	33					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612527	7612527	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:7612527T>C	ENST00000340080.4	+	4	842	c.421T>C	c.(421-423)Tca>Cca	p.S141P	MIOS_ENST00000405785.1_Missense_Mutation_p.S141P	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	141										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTGACTTTTCAGTGCTAAT	0.398000													109	33					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172359485	172359485	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:172359485T>G	ENST00000393784.3	+	8	727	c.588T>G	c.(586-588)taT>taG	p.Y196*		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	196					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACGGTTTATGAGGACAAGA	0.642000											OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	33					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901439	51901439	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:51901439G>C	ENST00000268919.4	+	1	1201	c.1045G>C	c.(1045-1047)Gac>Cac	p.D349H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	349	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGAGAAGCTGGACCTCAAAGT	0.448000													52	46					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754932	54754932	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:54754932C>T	ENST00000450632.1	-	13	1780	c.1703G>A	c.(1702-1704)gGg>gAg	p.G568E	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	369					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGGAATTCCCCAGACAGTGG	0.592000													4	15					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30825445	30825445	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:30825445C>T	ENST00000265299.6	+	4	577	c.500C>T	c.(499-501)aCg>aTg	p.T167M	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	167										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATGCAGACGGTCCCGGGT	0.458000													9	53					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120528239	120528239	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:120528239C>T	ENST00000354960.3	-	2	685	c.366G>A	c.(364-366)gtG>gtA	p.V122V	PDE5A_ENST00000394439.1_Silent_p.V70V|PDE5A_ENST00000264805.5_Silent_p.V80V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	122					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AGAGGAAGCTCACAGTTCCCT	0.483000													32	26					0	0	1	0	0
UBE2Q2	92912	broad.mit.edu	37	15	76175762	76175762	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:76175762G>A	ENST00000267938.4	+	9	1263	c.881G>A	c.(880-882)gGa>gAa	p.G294E	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.G294E|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.G259E|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.G278E	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	294					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						GTTCTCTCAGGAGGGTAAGTT	0.323000													23	37					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519118	73519118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:73519118G>A	ENST00000545030.1	-	2	1311	c.1237C>T	c.(1237-1239)Cag>Tag	p.Q413*	EGR4_ENST00000436467.2_Nonsense_Mutation_p.Q310*	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	309						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGAAAGCTGAGGCTGCGTA	0.697000													4	7					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020456	167020456	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:167020456C>G	ENST00000061240.2	+	20	3331	c.2684C>G	c.(2683-2685)tCa>tGa	p.S895*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.S918*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	895	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAAGCAGAATCAAAACCAAGA	0.428000													49	50					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59534955	59534955	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:59534955G>C	ENST00000393853.4	+	3	407	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	TBX4_ENST00000240335.1_Missense_Mutation_p.E82Q			P57082	TBX4_HUMAN	T-box 4	82					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAAGTTCCACGAGGCGGGCAC	0.612000													17	32					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155732380	155732380	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:155732380G>A	ENST00000159060.2	-	11	1525	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	475							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AGAAATATATGATAACTCAGA	0.413000													19	6					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	393					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48985612	48985612	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:48985612G>A	ENST00000378434.4	-	7	2572	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LPAR6_ENST00000345941.2_Silent_p.F316F|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	316						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GAACTTCAGAGAATCTGAAGT	0.338000													38	41					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101709073	101709073	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:101709073C>T	ENST00000506729.1	-	13	2314	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E653K|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E715K|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E462K|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E462K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	715						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCAGTTTCTTCTTTTTTCTTA	0.274000													48	75					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178866853	178866853	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:178866853T>C	ENST00000367635.3	+	17	1824	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	RALGPS2_ENST00000367634.2_Missense_Mutation_p.Y470H	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	496	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCTTTTTTACTATGCTGCCAA	0.388000													33	55					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381312	102381312	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:102381312G>A	ENST00000419462.1	+	0	724					NR_002182.1																						AGCTGAAATTGATGAAGAACC	0.473000													78	36					0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15496728	15496728	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:15496728G>A	ENST00000395906.3	-	11	1928	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	CDRT1_ENST00000354433.3_Silent_p.F143F|CDRT1_ENST00000583965.1_Intron|RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	643			F -> L (in dbSNP:rs8078150).							endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		AGTTCCCATTGAAGAAATTGT	0.512000													85	156					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216960901	216960901	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:216960901G>A	ENST00000454545.1	+	3	541	c.215G>A	c.(214-216)gGa>gAa	p.G72E	TMEM169_ENST00000437356.2_Missense_Mutation_p.G72E|TMEM169_ENST00000406027.2_Missense_Mutation_p.G72E|TMEM169_ENST00000295658.4_Missense_Mutation_p.G72E	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	72						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGAAGGTGGAGATCAGCCT	0.473000													13	5					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217126	51217126	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:51217126C>T	ENST00000293441.1	-	5	739	c.721G>A	c.(721-723)Gac>Aac	p.D241N	SHANK1_ENST00000391814.1_Missense_Mutation_p.D241N|SHANK1_ENST00000359082.3_Missense_Mutation_p.D241N	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	241					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCCGGAAGTCAATGTGGGCC	0.667000													34	31					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884845	117884845	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:117884845G>C	ENST00000439649.3	-	5	1009	c.642C>G	c.(640-642)atC>atG	p.I214M	GFRA1_ENST00000355422.6_Missense_Mutation_p.I219M|GFRA1_ENST00000369236.1_Missense_Mutation_p.I214M|GFRA1_ENST00000544592.1_Missense_Mutation_p.I98M	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	219					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CTGTGCAGGCGATGTCCCGGC	0.587000													11	51					0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104353768	104353768	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:104353768G>A	ENST00000369902.3	+	6	868	c.702G>A	c.(700-702)ctG>ctA	p.L234L	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L234L|SUFU_ENST00000423559.2_Silent_p.L234L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	234					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GCCCCTGGCTGATAACTGACA	0.557000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				25	33					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51791785	51791785	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:51791785A>G	ENST00000251076.5	-	18	3923	c.3636T>C	c.(3634-3636)gcT>gcC	p.A1212A	DMXL2_ENST00000543779.2_Silent_p.A1212A|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1212						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGTGATGACAGCTACTCCAT	0.433000													12	38					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133473511	133473511	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:133473511G>A	ENST00000402696.3	+	4	983	c.498G>A	c.(496-498)gaG>gaA	p.E166E	TF_ENST00000264998.3_Silent_p.E39E	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	166	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AACCTCTTGAGAAAGGTAAGC	0.567000													48	57					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61007460	61007460	+	Missense_Mutation	SNP	C	C	T	rs150716676	byFrequency	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:61007460C>T	ENST00000373867.3	-	15	1885	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	FAM13C_ENST00000468840.2_Missense_Mutation_p.E475K|FAM13C_ENST00000442566.3_Missense_Mutation_p.E579K|FAM13C_ENST00000373868.2_Missense_Mutation_p.E558K|PHYHIPL_ENST00000373878.3_3'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.E460K|PHYHIPL_ENST00000373880.4_3'UTR|FAM13C_ENST00000277705.6_Missense_Mutation_p.E578K	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	558										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATAATACTCATCTGCCATT	0.338000													31	42					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91851266	91851266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:91851266G>A	ENST00000394507.1	-	15	2296	c.1513C>T	c.(1513-1515)Cag>Tag	p.Q505*	KRIT1_ENST00000412043.2_Nonsense_Mutation_p.Q505*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.Q505*|KRIT1_ENST00000340022.2_Nonsense_Mutation_p.Q505*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.Q457*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	505	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAAAAGCTGAGGTGTTTCC	0.378000													57	13					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115114191	115114191	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:115114191T>C	ENST00000349155.2	-	5	1929	c.966A>G	c.(964-966)gaA>gaG	p.E322E	TBX3_ENST00000257566.3_Silent_p.E342E	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	342					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		AAGCTGCTTGTTCACTGGAGG	0.507000													9	44					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7802344	7802344	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:7802344G>A	ENST00000380358.4	+	14	2345	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	CHD3_ENST00000358181.4_Missense_Mutation_p.E723K|CHD3_ENST00000330494.7_Missense_Mutation_p.E723K	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	723	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGTGAAATATGAGACTCAGCC	0.532000													34	80					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683200	27683200	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:27683200C>T	ENST00000374040.3	-	24	3641	c.3381G>A	c.(3379-3381)ctG>ctA	p.L1127L	MAP3K6_ENST00000493901.1_Silent_p.L1135L|MAP3K6_ENST00000357582.2_Silent_p.L1135L			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1135					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCATTACTCAGCTCCTCTG	0.652000													4	10					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533876	69533876	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:69533876C>T	ENST00000338206.5	-	2	764	c.755G>A	c.(754-756)gGg>gAg	p.G252E		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	252					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTCAGCTTTCCCCATTGTCTC	0.368000													43	82					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3110266	3110266	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:3110266G>A	ENST00000078429.4	+	2	498	c.256G>A	c.(256-258)Gcc>Acc	p.A86T		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	86					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CATCTTCACCGCCATGCAGGC	0.622000			Mis		uveal melanoma								19	12					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53775937	53775937	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:53775937G>A	ENST00000426431.2	+	3	245	c.185G>A	c.(184-186)aGc>aAc	p.S62N	SP1_ENST00000327443.4_Missense_Mutation_p.S69N	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	69	Repressor domain.|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCAACTTGCAGCAGAATTGAG	0.562000											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	19					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41633921	41633921	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:41633921G>A	ENST00000331105.2	+	10	1482	c.1410G>A	c.(1408-1410)ctG>ctA	p.L470L		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	470					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACATCGACCTGACCCCACTCA	0.647000													21	14					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109392268	109392268	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:109392268T>C	ENST00000283195.6	+	24	8499	c.8373T>C	c.(8371-8373)tgT>tgC	p.C2791C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2791					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTCTTTCTGTAAATCTGAAG	0.378000													19	37					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11194509	11194509	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:11194509C>T	ENST00000361445.4	-	37	5221	c.5145G>A	c.(5143-5145)caG>caA	p.Q1715Q	MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1715	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCTGCATGTGCTGGAAGGCAT	0.547000													50	79					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769517	111769517	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:111769517G>A	ENST00000452346.2	+	9	1093		c.e9-1		TMPRSS7_ENST00000419127.1_Splice_Site			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCTTTTCCAGAGTGTGAAAA	0.393000													39	124					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961912	209961912	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:209961912G>A	ENST00000367021.3	-	9	1429	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	IRF6_ENST00000542854.1_Silent_p.V324V	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	419					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCTGCAGGCGGACACTGCCAC	0.517000										HNSCC(57;0.16)			20	54					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203748982	203748982	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:203748982A>G	ENST00000261015.4	-	10	1676	c.927T>C	c.(925-927)tgT>tgC	p.C309C		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12		Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						CTAAACGTTTACAAAGTGGAG	0.373000													23	41					0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119617367	119617367	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:119617367G>A	ENST00000281938.2	+	1	921	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	84					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	p.E84K(2)|p.E84*(2)|p.E84Q(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGCCTGCCGAGGGCAGGAC	0.657000													8	22					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170190227	170190227	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:170190227T>G	ENST00000284637.9	-	2	478	c.137A>C	c.(136-138)gAa>gCa	p.E46A	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	46						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ACATCTGAGTTCATTTCGAGA	0.532000													9	33					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21044155	21044155	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:21044155C>T	ENST00000247986.2	-	1	355	c.45G>A	c.(43-45)atG>atA	p.M15I	KIF17_ENST00000400463.3_Missense_Mutation_p.M15I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	15	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCCGCTGGTTCATGGGACGGC	0.741000													7	7					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754934	54754934	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:54754934A>G	ENST00000450632.1	-	13	1778	c.1701T>C	c.(1699-1701)tcT>tcC	p.S567S	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	368					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAATTCCCCAGACAGTGGGG	0.592000													5	14					0	0	1	0	0
FOS	2353	broad.mit.edu	37	14	75747935	75747935	+	Silent	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:75747935C>A	ENST00000303562.4	+	4	1160	c.951C>A	c.(949-951)gcC>gcA	p.A317A	FOS_ENST00000555347.1_Silent_p.A169A|FOS_ENST00000555686.1_Silent_p.A203A|FOS_ENST00000535987.1_Silent_p.A281A	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	317					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		GGCCCATGGCCACAGAGCTGG	0.622000													26	10					1.42536e-11	1.46273e-11	1	1	0
CALCB	797	broad.mit.edu	37	11	15096700	15096700	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:15096700G>A	ENST00000523376.1	+	8	1475	c.213G>A	c.(211-213)atG>atA	p.M71I	CALCB_ENST00000324229.6_Missense_Mutation_p.M60I|CALCB_ENST00000533448.1_Missense_Mutation_p.M60I			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	60					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						ATGTGCAGATGAAGGCCAGTG	0.632000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	43					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917597	144917597	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:144917597C>T	ENST00000529945.1	-	8	2435	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E503K|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E290K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E503K|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E666K|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E640K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E503K|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E640K|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E503K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E569K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	503					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGTTCTTTTTCTTTCTCTTCT	0.443000			T	PDGFRB	MPD								54	249					0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78782993	78782993	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:78782993A>C	ENST00000258886.8	+	18	2363	c.2214A>C	c.(2212-2214)gaA>gaC	p.E738D		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	738							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AGGCTATTGAAAATGCCCATG	0.373000													65	62					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:178936095A>C	ENST00000263967.3	+	10	1794	c.1637A>C	c.(1636-1638)cAg>cCg	p.Q546P		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			33	15					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057812	221057812	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:221057812C>T	ENST00000366903.6	+	4	2734	c.1233C>T	c.(1231-1233)gtC>gtT	p.V411V	HLX_ENST00000549319.1_Silent_p.V197V	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	411	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		AGGCCCCGGTCACTGGCGCCC	0.627000													23	20					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44942728	44942728	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:44942728T>C	ENST00000377967.4	+	23	3349	c.3308T>C	c.(3307-3309)cTg>cCg	p.L1103P	KDM6A_ENST00000536777.1_Missense_Mutation_p.L1058P|KDM6A_ENST00000382899.4_Missense_Mutation_p.L1110P|KDM6A_ENST00000543216.1_Missense_Mutation_p.L1024P	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1103	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTACATGAGCTGACTAAACTT	0.398000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								23	2					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34833888	34833888	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:34833888G>A	ENST00000420428.2	-	12	1742	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	CELF4_ENST00000591282.1_Silent_p.F449F|CELF4_ENST00000334919.5_Silent_p.F411F|CELF4_ENST00000603232.1_Silent_p.F448F|CELF4_ENST00000412753.1_Silent_p.F448F|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000361795.5_Silent_p.F447F|CELF4_ENST00000601019.1_Silent_p.F447F|CELF4_ENST00000591287.1_Silent_p.F447F	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	449	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCGGGTTGTCGAAGCTCACGA	0.706000													20	18					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871067	170871067	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:170871067G>A	ENST00000392092.2	+	3	522	c.243G>A	c.(241-243)caG>caA	p.Q81Q	TBP_ENST00000540980.1_Silent_p.Q61Q|TBP_ENST00000230354.6_Silent_p.Q81Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	81	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q81Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587000													3	11					0	0	1	0	0
SURF4	6836	broad.mit.edu	37	9	136233520	136233520	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:136233520G>A	ENST00000371989.3	-	3	396	c.267C>T	c.(265-267)ttC>ttT	p.F89F	SURF4_ENST00000467910.1_Intron|SURF4_ENST00000545297.1_Silent_p.F89F|SURF4_ENST00000371991.3_Silent_p.F89F|SURF4_ENST00000485435.2_Silent_p.F89F	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	89						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGTACTGCACGAAGTTCCTGC	0.612000													5	17					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96799787	96799787	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:96799787C>T	ENST00000342380.2	-	4	253	c.254G>A	c.(253-255)cGa>cAa	p.R85Q		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	85					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGACAGCAGTCGGAAGGGACT	0.612000													11	9					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145274903	145274903	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:145274903G>A	ENST00000558170.2	-	2	1199	c.15C>T	c.(13-15)atC>atT	p.I5I	ZEB2_ENST00000539609.3_Silent_p.I5I|ZEB2_ENST00000409487.3_Silent_p.I5I|ZEB2_ENST00000470879.1_Silent_p.I5I|ZEB2_ENST00000462355.1_Silent_p.I5I|ZEB2_ENST00000465070.1_Silent_p.I5I|ZEB2_ENST00000303660.4_Silent_p.I5I|ZEB2_ENST00000493689.1_5'UTR	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	5						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CATCCGCCATGATCGGCTGCT	0.582000													43	51					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35274341	35274341	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:35274341T>C	ENST00000356321.4	-	3	1639	c.1295A>G	c.(1294-1296)gAt>gGt	p.D432G		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CACTGAATTATCAATGCTTAA	0.348000													34	30					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65320965	65320965	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:65320965C>T	ENST00000301873.5	-	4	1169	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.E301K	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	301	TB 1.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAGCAGTCTTCCTGCTTGGTG	0.667000													10	17					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45870881	45870881	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:45870881C>T	ENST00000185206.6	-	6	1329	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N	CLIC5_ENST00000339561.6_Missense_Mutation_p.D234N	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	393	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ATCTCACTGTCAGCTGCACAG	0.562000													13	50					0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27286445	27286445	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:27286445G>A	ENST00000317338.12	-	9	2245	c.1817C>T	c.(1816-1818)tCt>tTt	p.S606F	SEZ6_ENST00000442608.3_Missense_Mutation_p.S606F|SEZ6_ENST00000360295.9_Missense_Mutation_p.S606F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	606	CUB 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCAGTTGGGAGAGAGTACCAC	0.582000													23	24					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12980032	12980032	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:12980032A>T	ENST00000251472.4	+	22	2965	c.2926A>T	c.(2926-2928)Aag>Tag	p.K976*		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	976	PDZ.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTCGGGCAAGAAGTATGGCTT	0.587000													15	19					0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72201265	72201265	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:72201265C>T	ENST00000287139.3	-	1	158	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	53					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						TGTCTGCCCTCGGCAGCGGGT	0.731000													3	4					0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192406	179192406	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:179192406A>T	ENST00000292599.3	+	2	658	c.395A>T	c.(394-396)gAc>gTc	p.D132V	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	132					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTACGGGGACCTCTTTCCT	0.527000													27	30					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	237029082	237029082	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:237029082C>T	ENST00000304032.8	+	17	2941	c.2361C>T	c.(2359-2361)ctC>ctT	p.L787L	AGAP1_ENST00000428334.2_Silent_p.L626L|AGAP1_ENST00000409538.1_Silent_p.L999L|AGAP1_ENST00000336665.5_Silent_p.L734L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGGCGCAGCTCCTGATCTGGG	0.667000													20	11					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37235794	37235794	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:37235794C>G	ENST00000233099.5	-	28	4577	c.4482G>C	c.(4480-4482)ttG>ttC	p.L1494F	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L1494F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1494							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTGGTAAAGTCAAGAGTGCAT	0.383000													17	67					0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2564857	2564857	+	Missense_Mutation	SNP	C	C	G	rs138923876		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:2564857C>G	ENST00000222725.5	+	3	506	c.486C>G	c.(484-486)aaC>aaG	p.N162K	LFNG_ENST00000338732.3_Missense_Mutation_p.N33K|LFNG_ENST00000402506.1_Missense_Mutation_p.N91K|LFNG_ENST00000359574.3_Missense_Mutation_p.N162K|LFNG_ENST00000402045.1_Missense_Mutation_p.N33K	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	162					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCACAGGCAACGTGGTCATCA	0.662000													16	6					0	0	1	0	0
KIAA1984	84960	broad.mit.edu	37	9	139701263	139701263	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:139701263G>A	ENST00000338005.6	+	12	1368	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	445										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGCGTACTGCGAGGGGAAGCT	0.632000													3	16					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	825532	825532	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:825532C>T	ENST00000293892.3	-	5	1228	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	115					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTCGTGACTCTGGACTCGCC	0.697000													6	1					0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7586921	7586921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:7586921C>T	ENST00000299492.4	+	3	590	c.202C>T	c.(202-204)Cag>Tag	p.Q68*		NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	68					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAGCTTCCTCAGGAGAGAGC	0.582000													23	50					0	0	1	0	0
HCG17	414778	broad.mit.edu	37	6	30229456	30229456	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:30229456G>A	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							GGTTGCTGCTGCGATGTGGAG	0.557000													14	54					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381254	102381254	+	RNA	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:102381254A>G	ENST00000419462.1	+	0	666					NR_002182.1																						CAGAGCTTGAAGAACAGGATT	0.507000													53	25					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7836555	7836555	+	Missense_Mutation	SNP	G	G	A	rs149102058		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:7836555G>A	ENST00000380262.3	+	1	1083	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	CNTROB_ENST00000380255.3_Missense_Mutation_p.R53Q|CNTROB_ENST00000563694.1_Missense_Mutation_p.R53Q|CNTROB_ENST00000565740.1_Missense_Mutation_p.R53Q	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	53					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCCACGGCCCGAGCCCAGCTG	0.577000													67	54					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33619689	33619689	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:33619689C>T	ENST00000265371.4	-	3	720	c.195G>A	c.(193-195)caG>caA	p.Q65Q	NRP1_ENST00000374822.4_Silent_p.Q65Q|NRP1_ENST00000374821.5_Silent_p.Q65Q|NRP1_ENST00000374823.5_Silent_p.Q65Q|NRP1_ENST00000432372.2_Silent_p.Q65Q|NRP1_ENST00000395995.1_Silent_p.Q65Q|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.Q65Q|NRP1_ENST00000374816.3_Silent_p.Q65Q			O14786	NRP1_HUMAN	neuropilin 1	65	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCATAATTCTCTGGTATGGGT	0.463000													20	37					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88402622	88402622	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:88402622A>G	ENST00000419482.2	+	7	1019	c.934A>G	c.(934-936)Aca>Gca	p.T312A	SMYD1_ENST00000444564.2_Missense_Mutation_p.T299A|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTCCAAGGATACATTGGAAAA	0.453000													26	48					0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	168044653	168044653	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:168044653G>A	ENST00000367840.3	+	22	2930	c.2836G>A	c.(2836-2838)Gaa>Aaa	p.E946K	DCAF6_ENST00000367843.3_Missense_Mutation_p.E875K|DCAF6_ENST00000432587.2_Missense_Mutation_p.E915K|DCAF6_ENST00000312263.6_Missense_Mutation_p.E855K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	855					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCAAGAGAATGAAAATGAGGA	0.323000													11	20					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100654272	100654272	+	Silent	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:100654272A>T	ENST00000358544.2	+	34	5640	c.5529A>T	c.(5527-5529)gcA>gcT	p.A1843A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.A1818A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1843					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTATTACTGCAAGTAGAATCT	0.373000													71	27					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50093022	50093022	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:50093022G>A	ENST00000281631.5	+	14	1688	c.1530G>A	c.(1528-1530)gtG>gtA	p.V510V	PARP8_ENST00000514342.2_Silent_p.V263V|PARP8_ENST00000505697.2_Silent_p.V510V|PARP8_ENST00000514067.2_Silent_p.V510V|PARP8_ENST00000503750.2_Silent_p.V510V|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Silent_p.V489V	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	510						intracellular	NAD+ ADP-ribosyltransferase activity	p.V510V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AATATTGTGTGGTTTGTGATG	0.338000													20	35					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49674971	49674971	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:49674971G>A	ENST00000252826.5	+	8	1121	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	TRPM4_ENST00000427978.2_Missense_Mutation_p.R332Q|TRPM4_ENST00000355712.5_Missense_Mutation_p.R49Q|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	332					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			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)		GGCGAAGCCCGAGATCGAATC	0.642000													20	23					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007618	8007618	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:8007618G>C	ENST00000344293.5	+	3	2351	c.2145G>C	c.(2143-2145)gaG>gaC	p.E715D		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	715	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aggaaaaagagaaggagaaga	0.393000													9	11					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100965644	100965644	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:100965644A>T	ENST00000375066.5	-	10	2288	c.2197T>A	c.(2197-2199)Ttc>Atc	p.F733I	TBC1D2_ENST00000375063.1_Missense_Mutation_p.F273I|TBC1D2_ENST00000342112.5_Missense_Mutation_p.F515I|TBC1D2_ENST00000375064.1_Missense_Mutation_p.F733I	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	733	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGCACCAGAAGGCGCTCTCC	0.617000													19	56					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52436687	52436687	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:52436687C>T	ENST00000460680.1	-	16	2458	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N	BAP1_ENST00000296288.5_Missense_Mutation_p.D645N	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	663	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTCTGGTCATCAATCTGTAGG	0.527000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							12	44					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75941597	75941597	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:75941597C>T	ENST00000308527.5	+	1	1351	c.154C>T	c.(154-156)Cct>Tct	p.P52S		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	52	SH3.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						AGGGCTCTTTCCTGCCTCTTA	0.587000													25	26					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30496459	30496459	+	Silent	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:30496459G>T	ENST00000222823.4	-	4	604	c.79C>A	c.(79-81)Cgg>Agg	p.R27R	NOD1_ENST00000423334.2_Silent_p.R27R	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	27	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGAAGTTCCCGATTGCTTTTC	0.483000													14	89					0.00400662	0.00402435	1	1	0
AVL9	23080	broad.mit.edu	37	7	32582775	32582775	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:32582775T>C	ENST00000318709.4	+	2	337	c.116T>C	c.(115-117)cTg>cCg	p.L39P	AVL9_ENST00000404479.1_Missense_Mutation_p.L39P|AVL9_ENST00000409301.1_Missense_Mutation_p.L39P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	39						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCCGCCCCTGATTCCAGGA	0.428000													165	45					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49293742	49293742	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:49293742C>T	ENST00000438782.1	+	8	1048	c.812C>T	c.(811-813)tCt>tTt	p.S271F	CCDC36_ENST00000452691.2_Missense_Mutation_p.S271F|CCDC36_ENST00000296449.5_Missense_Mutation_p.S271F			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	271										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		GACAGTGCTTCTCAGACGTCG	0.547000													24	16					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79296937	79296937	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:79296937C>A	ENST00000264895.6	+	26	3636	c.3196C>A	c.(3196-3198)Cac>Aac	p.H1066N	FRAS1_ENST00000325942.6_Missense_Mutation_p.H1066N	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1065					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGACCGTTGTCACCTCTGTGA	0.483000													3	14					0.115264	0.115366	1	1	0
FGFR2	2263	broad.mit.edu	37	10	123279496	123279496	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:123279496G>A	ENST00000358487.5	-	7	1208	c.936C>T	c.(934-936)ctC>ctT	p.L312L	FGFR2_ENST00000360144.3_Silent_p.L223L|FGFR2_ENST00000369056.1_Silent_p.L312L|FGFR2_ENST00000356226.4_Silent_p.L197L|FGFR2_ENST00000357555.5_Silent_p.L223L|FGFR2_ENST00000351936.6_Silent_p.L312L|FGFR2_ENST00000369060.4_Silent_p.L312L|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000457416.2_Silent_p.L312L|FGFR2_ENST00000478859.1_Silent_p.L84L|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Silent_p.L197L|FGFR2_ENST00000346997.2_Silent_p.L312L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	312	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCCTCACCTTGAGAACCTTGA	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				22	30					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234613945	234613945	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:234613945C>T	ENST00000040877.1	-	1	904	c.905G>A	c.(904-906)tGc>tAc	p.C302Y		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	302					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CCCGCAGGTGCAGTCGGCCCC	0.687000													5	10					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86123987	86123987	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:86123987T>C	ENST00000394518.2	+	7	2783	c.2688T>C	c.(2686-2688)agT>agC	p.S896S	AKAP13_ENST00000361243.2_Silent_p.S896S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	896					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCCTGCAAAGTGTGGGTAAGG	0.493000													24	25					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163632	141163632	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:141163632C>T	ENST00000514251.1	+	4	2681	c.2402C>T	c.(2401-2403)tCa>tTa	p.S801L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S801L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S802L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	801					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCTGGAGGATCACTGAGCAAA	0.428000													24	12					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6653031	6653031	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:6653031G>A	ENST00000299441.3	-	7	3902	c.3491C>T	c.(3490-3492)aCc>aTc	p.T1164I	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1164	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGAGTGTGGTCACTTCTCC	0.592000													12	12					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58348465	58348465	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:58348465G>A	ENST00000371015.1	+	6	1350	c.883G>A	c.(883-885)Gag>Aag	p.E295K	PHACTR3_ENST00000395636.2_Missense_Mutation_p.E254K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E184K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.E254K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E254K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E292K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E184K	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	295						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCGCGTCATTGAGGAGCTGCA	0.687000													18	4					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952042	52952042	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:52952042C>T	ENST00000349258.4	-	4	2448	c.1904G>A	c.(1903-1905)tGc>tAc	p.C635Y	THSD1_ENST00000544466.1_Missense_Mutation_p.C309Y|THSD1_ENST00000258613.4_Missense_Mutation_p.C688Y	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	688						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGCCTGCTCGCAGGTCCGCGT	0.597000													23	19					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88589037	88589037	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:88589037G>A	ENST00000266712.6	+	14	2576	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	787						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGAAGAAAAAGACTTATTAAA	0.338000													15	59					0	0	1	0	0
TXLNA	200081	broad.mit.edu	37	1	32647030	32647030	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:32647030G>A	ENST00000373609.1	+	2	638	c.357G>A	c.(355-357)agG>agA	p.R119R	TXLNA_ENST00000373610.3_Silent_p.R119R			P40222	TXLNA_HUMAN	taxilin alpha	119					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGTGGCAAGGAATGGGGAGC	0.592000													8	15					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103092809	103092809	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:103092809G>A	ENST00000375735.2	+	58	9302	c.9158G>A	c.(9157-9159)cGa>cAa	p.R3053Q	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R3053Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3053	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.R486Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTGATGCCCGAAATATTTCA	0.284000													19	30					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942432	11942432	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:11942432A>G	ENST00000304060.5	+	4	605	c.441A>G	c.(439-441)caA>caG	p.Q147Q		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTAAGTGTCAACAACCTAAAA	0.413000													60	133					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101008723	101008723	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:101008723T>C	ENST00000360863.6	-	20	3179	c.2985A>G	c.(2983-2985)ctA>ctG	p.L995L	RGS22_ENST00000523437.1_Silent_p.L983L|RGS22_ENST00000523287.1_Silent_p.L814L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	995				LQK -> DAW (in Ref. 2; CAB55986).	negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAGCCTTCTGTAGTAAGAGCT	0.348000													22	98					0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57920563	57920563	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:57920563G>A	ENST00000355673.3	+	7	1991	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	MBD6_ENST00000431731.2_Silent_p.L545L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	545	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCTCCCTCTGAGTCTGGGGC	0.627000													25	31					0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38813721	38813721	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:38813721G>A	ENST00000310301.4	-	12	1060	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.H311Y	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	336					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTACCTAAATGATAATCTCTA	0.378000													118	25					0	0	1	0	0
FAM69C	125704	broad.mit.edu	37	18	72103899	72103899	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:72103899G>A	ENST00000343998.6	-	4	1105	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	FAM69C_ENST00000400291.2_Missense_Mutation_p.A67V	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	366						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(2)|ovary(2)	5						GAAAGAGACCGCAGAGCTCTT	0.552000													13	12					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	968121	968121	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:968121C>T	ENST00000382276.3	+	5	1253	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	DMRT1_ENST00000569227.1_Silent_p.V210V	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	368					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TCACTCCCGTCATCGAGGAGG	0.517000													7	21					0	0	1	0	0
CHTF8	54921	broad.mit.edu	37	16	69154429	69154429	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:69154429C>T	ENST00000448552.2	-	4	386	c.265G>A	c.(265-267)Gag>Aag	p.E89K	CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000519520.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.E89K|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000306585.6_5'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	89					cell cycle|DNA replication	nucleus	DNA binding										GTGCCAGTCTCGCGGCCAAGC	0.512000													23	27					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18965818	18965818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:18965818C>T	ENST00000262803.5	+	10	1668	c.1396C>T	c.(1396-1398)Cag>Tag	p.Q466*	UPF1_ENST00000599848.1_Nonsense_Mutation_p.Q477*	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	477				I -> T (in Ref. 2; AAC51140).	cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCACGGCGCAGGGCCTCCC	0.677000													11	54					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38039946	38039946	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:38039946G>C	ENST00000373062.3	-	12	1512	c.1414C>G	c.(1414-1416)Cag>Gag	p.Q472E		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	472					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GCTCTTACCTGGGGGGCCACA	0.542000													10	8					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544133	23544133	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:23544133C>T	ENST00000300619.7	-	4	1853	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	ZNF91_ENST00000397082.2_Missense_Mutation_p.E518K|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	550						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTTACATTTG	0.328000													13	26					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322981	31322981	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:31322981A>T	ENST00000269197.5	+	12	3169	c.3169A>T	c.(3169-3171)Atc>Ttc	p.I1057F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1057	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTCGCAGATATCAAGGCCCG	0.597000													7	16					0	0	1	0	0
PGRMC2	10424	broad.mit.edu	37	4	129208561	129208561	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:129208561C>T	ENST00000520121.1	-	1	1423	c.457G>A	c.(457-459)Gac>Aac	p.D153N	PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000296425.5_Missense_Mutation_p.D129N	NM_006320.4	NP_006311.2			progesterone receptor membrane component 2																		TTGGTCACGTCGAAGACTTTC	0.632000													7	8					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144812503	144812503	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:144812503G>A	ENST00000388913.3	-	2	375	c.250C>T	c.(250-252)Ctc>Ttc	p.L84F		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	84					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCACGTCGAGAAGGCTGCCT	0.602000													56	49					0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43604342	43604342	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:43604342T>G	ENST00000451025.2	+	3	577	c.367T>G	c.(367-369)Tat>Gat	p.Y123D	MAD2L1BP_ENST00000508232.1_3'UTR|MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.Y91D	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	91					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCCTCTGCCCTATGAACAGCT	0.507000													34	227					0	0	1	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28121657	28121657	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:28121657C>T	ENST00000330236.6	+	6	1783	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	ZKSCAN8_ENST00000457389.2_Silent_p.L533L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		ACACTGGTCTCATTCAACACC	0.433000													63	53					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114710569	114710569	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:114710569G>A	ENST00000355995.4	+	1	561	c.54G>A	c.(52-54)ctG>ctA	p.L18L	TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000536810.1_Silent_p.L18L|TCF7L2_ENST00000543371.1_Silent_p.L18L|TCF7L2_ENST00000349937.2_Silent_p.L18L|TCF7L2_ENST00000352065.5_Silent_p.L18L|TCF7L2_ENST00000369397.4_Silent_p.L18L|TCF7L2_ENST00000369395.1_Silent_p.L18L|TCF7L2_ENST00000534894.1_Silent_p.L18L|TCF7L2_ENST00000355717.4_Silent_p.L18L|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000538897.1_Silent_p.L18L|TCF7L2_ENST00000545257.1_Silent_p.L18L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	18	CTNNB1-binding (By similarity).				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ACGACGAACTGATTTCCTTCA	0.498000			T	VTI1A	colorectal								5	15					0	0	1	0	0
PHF11	51131	broad.mit.edu	37	13	50092216	50092216	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:50092216G>A	ENST00000357596.3	+	5	546	c.270G>A	c.(268-270)aaG>aaA	p.K90K	PHF11_ENST00000488958.1_Silent_p.K90K|PHF11_ENST00000378319.3_Silent_p.K129K	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		ACTGTAACAAGAATTACCACT	0.343000													18	4					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516434	1516434	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:1516434G>T	ENST00000389470.4	-	37	5655	c.5656C>A	c.(5656-5658)Cag>Aag	p.Q1886K	INTS1_ENST00000404767.3_Missense_Mutation_p.Q1687K			Q8N201	INT1_HUMAN	integrator complex subunit 1	1687					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCCACCTCTGTTCCCGGCTC	0.642000													24	2					3.6726e-16	3.83831e-16	1	1	0
ADAMTS9	56999	broad.mit.edu	37	3	64547276	64547276	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:64547276C>A	ENST00000498707.1	-	30	5018	c.4676G>T	c.(4675-4677)tGg>tTg	p.W1559L	ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W1531L|ADAMTS9-AS1_ENST00000470447.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1559	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCTGCCCTCCAAGTGTAGAG	0.552000													17	61					8.60227e-14	8.91651e-14	1	1	0
SOX5	6660	broad.mit.edu	37	12	23689477	23689477	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:23689477C>T	ENST00000546136.1	-	13	1861	c.1859G>A	c.(1858-1860)tGc>tAc	p.C620Y	SOX5_ENST00000396007.2_Missense_Mutation_p.C247Y|SOX5_ENST00000309359.1_Missense_Mutation_p.C620Y|SOX5_ENST00000381381.2_Missense_Mutation_p.C512Y|SOX5_ENST00000451604.2_Missense_Mutation_p.C633Y|SOX5_ENST00000541536.1_Missense_Mutation_p.C512Y|SOX5_ENST00000537393.1_Missense_Mutation_p.C598Y|SOX5_ENST00000545921.1_Missense_Mutation_p.C623Y			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	633					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATCCACCAGGCAGGTGCGCTT	0.517000													29	37					0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1158658	1158658	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:1158658G>A	ENST00000263741.7	-	4	835	c.543C>T	c.(541-543)atC>atT	p.I181I	SDF4_ENST00000360001.6_Silent_p.I181I|SDF4_ENST00000545427.1_Silent_p.I181I	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	181					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGTTGAGCCTGATGGCGTCGG	0.557000													51	58					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124351687	124351687	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:124351687C>A	ENST00000287394.5	-	20	2826		c.e20-1		ATAD2_ENST00000521903.1_Splice_Site	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTCTTGCACCTTAAAAAAGA	0.289000													15	101					1.02788e-11	1.05579e-11	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99139547	99139547	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:99139547A>G	ENST00000550693.2	-	12	1576	c.1323T>C	c.(1321-1323)atT>atC	p.I441I	ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000546568.1_Silent_p.I417I|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000333732.7_Silent_p.I280I|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547446.1_Silent_p.I385I|ANKS1B_ENST00000332712.7_Silent_p.I441I|ANKS1B_ENST00000549025.2_Silent_p.I348I|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549493.2_Silent_p.I501I	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	0						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACTTGGTATTAATGCCCCTCT	0.547000													14	25					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2297421	2297421	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:2297421G>A	ENST00000222990.3	-	8	975	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	311					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CCACCACGTCGTTCTCTTCCT	0.597000													5	164					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3731998	3731998	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:3731998T>A	ENST00000378230.3	-	22	3070	c.2746A>T	c.(2746-2748)Aag>Tag	p.K916*		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	916						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CTGGAGCTCTTGCTCAGTCCG	0.632000													3	15					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55690682	55690682	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:55690682C>T	ENST00000379906.2	+	1	331	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	SLC6A2_ENST00000561820.1_Missense_Mutation_p.R26W|SLC6A2_ENST00000414754.3_Missense_Mutation_p.R26W|SLC6A2_ENST00000566163.1_Missense_Mutation_p.R26W|SLC6A2_ENST00000568943.1_Missense_Mutation_p.R26W|SLC6A2_ENST00000219833.8_Missense_Mutation_p.R26W	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	26					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCAGCCCCTTCGGGCGCGCAA	0.697000													10	20					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49075218	49075218	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:49075218C>T	ENST00000550347.1	-	1	790	c.747G>A	c.(745-747)acG>acA	p.T249T	KANSL2_ENST00000420613.2_Silent_p.T66T|KANSL2_ENST00000553086.1_Silent_p.T66T|KANSL2_ENST00000357861.3_5'UTR			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	66																	TTCCATTCTTCGTCGATATAT	0.433000													27	28					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456908	27456908	+	Silent	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:27456908T>G	ENST00000264705.4	+	22	3594	c.3432T>G	c.(3430-3432)ggT>ggG	p.G1144G	CAD_ENST00000403525.1_Silent_p.G1081G	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1144	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTCTGATGGTGTGGTGGCAG	0.552000													14	14					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76731869	76731869	+	Silent	SNP	G	G	A	rs143754800	byFrequency	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:76731869G>A	ENST00000369950.3	-	6	819	c.630C>T	c.(628-630)ctC>ctT	p.L210L	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	210					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTGTATTATCGAGAATTTCAT	0.398000													13	23					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132837975	132837975	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:132837975G>C	ENST00000372406.1	+	2	709	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L	GPR107_ENST00000372410.3_Missense_Mutation_p.V68L|GPR107_ENST00000347136.6_Missense_Mutation_p.V68L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	68						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGGGTACATGGTGGTGAATGT	0.393000													4	21					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150479498	150479498	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:150479498G>T	ENST00000369064.3	+	18	2149	c.2115G>T	c.(2113-2115)gaG>gaT	p.E705D	TARS2_ENST00000369054.2_Missense_Mutation_p.E575D|TARS2_ENST00000606933.1_Missense_Mutation_p.E623D	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	705					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			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)	GACTGGTGGAGCTACAGAACA	0.522000													10	17					7.03913e-09	7.18472e-09	1	1	0
GRIP1	23426	broad.mit.edu	37	12	66839160	66839160	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:66839160C>T	ENST00000359742.4	-	12	1723	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E495K|GRIP1_ENST00000398016.3_Missense_Mutation_p.E443K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	495	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAGAGAGTTTCTGTGGCAAAC	0.507000													26	37					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40010379	40010379	+	Silent	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40010379A>T	ENST00000319121.3	-	2	1800	c.1740T>A	c.(1738-1740)atT>atA	p.I580I		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	580						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTTGGCTGGCAATTTTTCTTA	0.398000													51	69					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32157485	32157485	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:32157485C>T	ENST00000375050.4	-	1	478	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	70							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GCCTGGGCCTCGTCCAGGCTC	0.647000													18	19					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248787	141248787	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:141248787G>A	ENST00000287008.3	-	2	397	c.250C>T	c.(250-252)Cca>Tca	p.P84S	PCDH1_ENST00000503492.1_Missense_Mutation_p.P84S|PCDH1_ENST00000456271.1_Missense_Mutation_p.P84S|PCDH1_ENST00000394536.3_Missense_Mutation_p.P84S|PCDH1_ENST00000536585.1_Missense_Mutation_p.P62S	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	84	Cadherin 1.				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)		CCCACATCTGGAAAACCATAG	0.607000													7	11					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484277	45484277	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:45484277C>T	ENST00000359600.5	-	14	3612	c.3407G>A	c.(3406-3408)gGa>gAa	p.G1136E		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1136							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AATGAACTCTCCATAGTGGCG	0.522000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	48					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26890260	26890260	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:26890260G>C	ENST00000407690.1	-	14	2286	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C	TFIP11_ENST00000407148.1_Missense_Mutation_p.S668C|TFIP11_ENST00000405938.1_Missense_Mutation_p.S668C|TFIP11_ENST00000407431.1_Missense_Mutation_p.S668C|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	668					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ACTGAGCCAAGAGCACAGCAC	0.453000													13	167					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688956	26688956	+	Missense_Mutation	SNP	G	G	A	rs147999138		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:26688956G>A	ENST00000529632.2	+	2	875	c.679G>A	c.(679-681)Gac>Aac	p.D227N	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D227N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D227N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D227N|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D227N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	227						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCTGGGCCTGACATGGCCCA	0.647000													186	26					0	0	1	0	0
COMMD7	149951	broad.mit.edu	37	20	31292698	31292698	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:31292698C>T	ENST00000278980.6	-	6	950	c.345G>A	c.(343-345)caG>caA	p.Q115Q	COMMD7_ENST00000446419.2_Silent_p.Q114Q	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	115					negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding			breast(1)|endometrium(1)|lung(3)	5						TGGGAGCATTCTGCTTCCACT	0.433000													52	12					0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208152	67208152	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:67208152C>T	ENST00000432069.2	+	4	652	c.80C>T	c.(79-81)tCg>tTg	p.S27L	NOL3_ENST00000564053.1_Missense_Mutation_p.S89L|NOL3_ENST00000568146.1_Missense_Mutation_p.S27L|NOL3_ENST00000268605.7_Missense_Mutation_p.S27L	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	27	CARD.				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGCGGACTCGGGACTGCTG	0.687000													10	13					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377461	138377461	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:138377461G>A	ENST00000356818.2	+	4	1654	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	PPP1R26_ENST00000401470.3_Missense_Mutation_p.E369K|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.E369K|PPP1R26_ENST00000604351.1_Missense_Mutation_p.E369K|PPP1R26_ENST00000605660.1_Missense_Mutation_p.E369K	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	369						nucleolus	protein binding										CGATGGCATTGAGGAGGCCAT	0.642000													20	21					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44302620	44302620	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:44302620C>T	ENST00000395749.2	-	3	280	c.204G>A	c.(202-204)ctG>ctA	p.L68L	CAMK2B_ENST00000395747.2_Silent_p.L68L|CAMK2B_ENST00000347193.4_Silent_p.L68L|CAMK2B_ENST00000353625.4_Silent_p.L68L|CAMK2B_ENST00000258682.6_Silent_p.L68L|CAMK2B_ENST00000457475.1_Silent_p.L68L|CAMK2B_ENST00000358707.3_Silent_p.L68L|CAMK2B_ENST00000440254.2_Silent_p.L68L|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000350811.3_Silent_p.L68L|CAMK2B_ENST00000346990.4_Silent_p.L68L	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	68	Protein kinase.			L -> V (in Ref. 3; AAD03744/AAD03743).	interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGGAATGCTTCAGAAGGCGGC	0.607000													60	12					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21699338	21699338	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:21699338C>G	ENST00000261195.2	-	12	1743	c.1489G>C	c.(1489-1491)Gtt>Ctt	p.V497L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	497					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAACCTCTAACAAACTCTTCA	0.368000													25	29					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76602843	76602843	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:76602843C>T	ENST00000287239.4	+	3	717	c.228C>T	c.(226-228)aaC>aaT	p.N76N	KAT6B_ENST00000372711.1_Silent_p.N76N|KAT6B_ENST00000372724.1_Silent_p.N76N|KAT6B_ENST00000372725.1_Silent_p.N76N|KAT6B_ENST00000372714.1_Silent_p.N76N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	76					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACCCAGACAACCCTGGGCGCT	0.468000													38	56					0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43832402	43832402	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:43832402G>A	ENST00000402924.1	+	6	506	c.343G>A	c.(343-345)Gag>Aag	p.E115K	BLVRA_ENST00000265523.4_Missense_Mutation_p.E115K	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	115					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGAGCTGGCTGAGCAGAAAGG	0.463000													26	4					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88554612	88554612	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:88554612C>A	ENST00000266712.6	+	6	1001	c.781C>A	c.(781-783)Ctt>Att	p.L261I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	261						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TCAATCCCAACTTCCAGTATT	0.313000													34	55					6.90743e-12	7.11427e-12	1	1	0
SNX16	64089	broad.mit.edu	37	8	82751969	82751969	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:82751969C>T	ENST00000396330.2	-	3	759	c.253G>A	c.(253-255)Gag>Aag	p.E85K	SNX16_ENST00000353788.4_Missense_Mutation_p.E85K|SNX16_ENST00000345957.4_Missense_Mutation_p.E85K	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	85					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GTAGAATACTCAATGGAAGAA	0.383000													94	53					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27337905	27337905	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:27337905C>T	ENST00000376087.4	-	17	1804	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E563K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E104K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	547						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTTTCTTCTTCAACCTTTAAT	0.294000													7	8					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110428081	110428081	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:110428081T>C	ENST00000506538.2	+	1	668	c.95T>C	c.(94-96)cTa>cCa	p.L32P	WDR36_ENST00000513710.2_Missense_Mutation_p.L32P|WDR36_ENST00000505303.1_5'UTR	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	32					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		ACTGTTCCACTAGACACGCTG	0.597000													22	31					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1348953	1348953	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:1348953G>A	ENST00000389851.4	+	7	1543	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	UVSSA_ENST00000511216.1_Missense_Mutation_p.D366N|UVSSA_ENST00000507531.1_Missense_Mutation_p.D366N	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	366																	GCGTGCCATTGACCTGAAGGC	0.632000													10	1					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			36	5					0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137525547	137525547	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:137525547G>A	ENST00000394886.2	-	14	1503	c.1473C>T	c.(1471-1473)atC>atT	p.I491I		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	491					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGATATATTTGATGTAACACT	0.368000													36	52					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75871571	75871571	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:75871571G>A	ENST00000274364.6	+	5	732	c.435G>A	c.(433-435)atG>atA	p.M145I	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	145	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TACCAAGAATGATATATTGCA	0.303000													13	25					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279607	85279607	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:85279607G>A	ENST00000440886.1	-	2	1022	c.984C>T	c.(982-984)ctC>ctT	p.L328L	LPAR3_ENST00000370611.3_Silent_p.L328L|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	328					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CACTCCTGCTGAGGACTGTGG	0.527000													20	10					0	0	1	0	0
METTL23	124512	broad.mit.edu	37	17	74729645	74729645	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:74729645G>A	ENST00000341249.6	+	5	782	c.450G>A	c.(448-450)atG>atA	p.M150I	METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000591571.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586200.1_Missense_Mutation_p.M31I|METTL23_ENST00000586752.1_Missense_Mutation_p.M83I|METTL23_ENST00000590964.1_Missense_Mutation_p.M83I|METTL23_ENST00000588302.1_3'UTR|METTL23_ENST00000588822.1_Missense_Mutation_p.M83I	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	150						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						AATGGGATATGAAATGTGTCC	0.363000													94	95					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35720214	35720214	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:35720214G>A	ENST00000314888.9	-	13	1639	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	TLN1_ENST00000540444.1_Missense_Mutation_p.S429L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	429	Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGACTGTTGACCTGTAGAG	0.562000													11	27					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28842045	28842045	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:28842045C>T	ENST00000336783.4	+	9	1311	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	ATXN2L_ENST00000395547.2_Missense_Mutation_p.R382C|ATXN2L_ENST00000382686.4_Missense_Mutation_p.R382C|ATXN2L_ENST00000340394.8_Missense_Mutation_p.R382C|ATXN2L_ENST00000564304.1_Missense_Mutation_p.R382C|ATXN2L_ENST00000570200.1_Missense_Mutation_p.R382C|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000325215.6_Missense_Mutation_p.R382C	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	382						membrane		p.R382C(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTGCCACCTCGTGGCCCTCA	0.612000													18	22					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3984165	3984165	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:3984165C>T	ENST00000309311.6	-	2	275	c.187G>A	c.(187-189)Gag>Aag	p.E63K	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	63						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCCTGCTCGTCCTTCCGG	0.652000													27	58					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5539379	5539379	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:5539379G>T	ENST00000379019.4	-	18	1831	c.1619C>A	c.(1618-1620)tCt>tAt	p.S540Y	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	540	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GGTTGTCCGAGATCTGAGGTC	0.348000													17	42					1.56452e-12	1.61577e-12	1	1	0
TRIM37	4591	broad.mit.edu	37	17	57157164	57157164	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:57157164C>G	ENST00000376149.3	-	7	1010	c.201G>C	c.(199-201)atG>atC	p.M67I	TRIM37_ENST00000393066.3_Missense_Mutation_p.M189I|TRIM37_ENST00000393065.2_Missense_Mutation_p.M155I|TRIM37_ENST00000262294.7_Missense_Mutation_p.M189I			O94972	TRI37_HUMAN	tripartite motif containing 37	189						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACCGTGCAATCATCATCTCCA	0.403000									Mulibrey Nanism				40	42					0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170492614	170492614	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:170492614C>G	ENST00000260970.3	+	13	1250	c.1030C>G	c.(1030-1032)Cct>Gct	p.P344A	PPIG_ENST00000448752.2_Missense_Mutation_p.P344A|PPIG_ENST00000409714.3_Missense_Mutation_p.P329A|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	344					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TTATCGAACTCCTTCCAGATC	0.458000													26	50					0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116590650	116590650	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:116590650C>T	ENST00000369248.4	+	2	420	c.85C>T	c.(85-87)Cac>Tac	p.H29Y	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H29Y|FAM160B1_ENST00000369246.1_Missense_Mutation_p.H29Y	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	29										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTTTGTTTATCACTGGAAGGC	0.318000													18	48					0	0	1	0	0
POLR3F	10621	broad.mit.edu	37	20	18461116	18461116	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:18461116A>C	ENST00000377603.4	+	7	1024	c.644A>C	c.(643-645)gAa>gCa	p.E215A	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	215					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding			breast(2)	2						TCATCACATGAAGTGTGGAAA	0.323000													15	12					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40309840	40309840	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:40309840C>T	ENST00000316891.5	-	10	1181	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	TRIT1_ENST00000441669.2_Silent_p.E307E|TRIT1_ENST00000545233.1_Silent_p.E143E|TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_Silent_p.E7E|TRIT1_ENST00000372818.1_Silent_p.E363E|TRIT1_ENST00000537440.1_Silent_p.E85E|TRIT1_ENST00000537223.1_Silent_p.E85E	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	389					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTCTTGTTCTCAGCTTCAT	0.453000													26	31					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25773322	25773322	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:25773322C>T	ENST00000374343.4	+	2	329	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Silent_p.F50F	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	50						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGGAGTTCAGATTTGAAT	0.383000													31	34					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85108094	85108094	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:85108094C>T	ENST00000335459.5	-	1	275	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	TRABD2A_ENST00000409133.1_Missense_Mutation_p.G24R|TRABD2A_ENST00000409520.2_Missense_Mutation_p.G24R	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CCGGGCGCCCCGCGCCGCGAA	0.701000													5	8					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2807010	2807010	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:2807010G>A	ENST00000307741.6	+	7	1049	c.846G>A	c.(844-846)atG>atA	p.M282I	THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.M161I	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	282					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGGAGATGAACATGGCCA	0.627000													13	11					0	0	1	0	0
NT5C2	22978	broad.mit.edu	37	10	104865528	104865528	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:104865528A>G	ENST00000343289.5	-	5	411	c.324T>C	c.(322-324)aaT>aaC	p.N108N	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Silent_p.N79N|NT5C2_ENST00000404739.3_Silent_p.N108N	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	108					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	CTTTCAAAAGATTTCCATACA	0.353000													33	52					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68539451	68539451	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:68539451G>A	ENST00000322244.5	-	7	569	c.510C>T	c.(508-510)atC>atT	p.I170I	UBA6_ENST00000420827.2_Silent_p.I170I	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAAAGTCATTGATCTTCTTCT	0.313000													68	83					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12946024	12946024	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:12946024G>A	ENST00000276297.4	-	16	4673	c.4264C>T	c.(4264-4266)Cat>Tat	p.H1422Y	DLC1_ENST00000520226.1_Missense_Mutation_p.H911Y|DLC1_ENST00000358919.2_Missense_Mutation_p.H985Y|DLC1_ENST00000512044.2_Missense_Mutation_p.H1019Y|DLC1_ENST00000510318.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1422	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGAGCAGGATGAGGTGCCATA	0.428000													40	14					0	0	1	0	0
BTG1	694	broad.mit.edu	37	12	92537910	92537910	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:92537910G>A	ENST00000256015.3	-	2	823	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	154					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TTCTGCCCAAGAGAAGTTCCT	0.443000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	48					0	0	1	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102935066	102935066	+	Missense_Mutation	SNP	T	T	C	rs138589410		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:102935066T>C	ENST00000260247.5	-	7	938	c.596A>G	c.(595-597)aAt>aGt	p.N199S	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.N114S	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	199	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TTCTAATACATTGTACCATTG	0.274000													54	70					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096843	53096843	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:53096843C>T	ENST00000341809.3	-	1	404	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	126	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGACCAAAGCCCCCAAGCCCA	0.577000													19	46					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46099287	46099287	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:46099287G>A	ENST00000355105.3	-	10	2278	c.918C>T	c.(916-918)atC>atT	p.I306I	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Silent_p.I306I	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	306				I -> V (in Ref. 1; BAB15047).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GAGAGGAGCTGATCTCAATTG	0.517000													11	29					0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116574152	116574152	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:116574152C>T	ENST00000369503.4	+	6	1024	c.894C>T	c.(892-894)ctC>ctT	p.L298L	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	298					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCTGGATCTCTTTCGTTACC	0.478000													26	52					0	0	1	0	0
SCARB2	950	broad.mit.edu	37	4	77097609	77097609	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:77097609C>T	ENST00000264896.2	-	5	1034	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	229					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TTCCATTCCACAATTTTTGTA	0.284000													20	38					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41142373	41142373	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:41142373G>A	ENST00000361677.1	+	4	908	c.896G>A	c.(895-897)tGt>tAt	p.C299Y		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	299										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GGTGGACACTGTGAGTGCAAG	0.488000													48	58					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37948944	37948944	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:37948944G>A	ENST00000346872.3	-	4	467	c.406C>T	c.(406-408)Cat>Tat	p.H136Y	IKZF3_ENST00000350532.3_Missense_Mutation_p.H136Y|IKZF3_ENST00000351680.3_Missense_Mutation_p.H136Y|IKZF3_ENST00000377945.3_Missense_Mutation_p.H136Y|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000467757.1_Missense_Mutation_p.H136Y|IKZF3_ENST00000535189.1_Missense_Mutation_p.H102Y|IKZF3_ENST00000377958.2_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.H136Y|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Missense_Mutation_p.H102Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.H136Y	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	136					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTCGCTTATGAACCATTAAG	0.418000													48	46					0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94033346	94033346	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:94033346G>A	ENST00000370244.1	-	12	2325	c.2037C>T	c.(2035-2037)ctC>ctT	p.L679L	BCAR3_ENST00000370243.1_Silent_p.L679L|BCAR3_ENST00000260502.6_Silent_p.L679L|BCAR3_ENST00000539242.1_Silent_p.L355L|BCAR3_ENST00000370247.3_Silent_p.L588L	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	679	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GTTTCTCATAGAGAATGGCAG	0.517000													26	17					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5940235	5940235	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:5940235G>A	ENST00000378156.4	-	19	2815	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	850					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CATCGTTTGAGATGACCCGAG	0.537000													11	11					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18705942	18705942	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:18705942C>T	ENST00000406451.4	+	12	1715	c.1565C>T	c.(1564-1566)tCt>tTt	p.S522F	HDAC9_ENST00000417496.2_Missense_Mutation_p.S520F|HDAC9_ENST00000406072.1_Missense_Mutation_p.S509F|HDAC9_ENST00000524023.1_Missense_Mutation_p.S445F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S525F|HDAC9_ENST00000405010.3_Missense_Mutation_p.S522F|HDAC9_ENST00000428307.2_Missense_Mutation_p.S478F|HDAC9_ENST00000432645.2_Missense_Mutation_p.S522F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S481F|HDAC9_ENST00000456174.2_Missense_Mutation_p.S494F	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGAGCGCCCTCTAGTGGCAAC	0.542000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	11					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104404828	104404828	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:104404828C>T	ENST00000302424.7	+	1	576	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAACGCCTACCGCCTCTACCA	0.701000													7	7					0	0	1	0	0
UNG	7374	broad.mit.edu	37	12	109537036	109537036	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:109537036T>C	ENST00000336865.2	+	2	564	c.355T>C	c.(355-357)Tat>Cat	p.Y119H	UNG_ENST00000242576.2_Missense_Mutation_p.Y128H	NM_003362.3	NP_003353.1	P13051	UNG_HUMAN	uracil-DNA glycosylase	128					base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTACACTGTTTATCCACCCCC	0.358000								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM				26	44					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150814771	150814771	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:150814771G>A	ENST00000397238.2	+	5	613	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	AGAP3_ENST00000479901.1_Missense_Mutation_p.E205K|AGAP3_ENST00000335367.3_Missense_Mutation_p.E385K|AGAP3_ENST00000476375.1_3'UTR|AGAP3_ENST00000473312.1_Missense_Mutation_p.E205K|AGAP3_ENST00000463381.1_5'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	169	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCTGGAGGATGAAATCAGTTT	0.562000													109	28					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731170	140731170	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:140731170T>G	ENST00000523390.1	+	1	1343	c.1343T>G	c.(1342-1344)tTc>tGc	p.F448C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCTGTTTTCCATCAGGCC	0.562000													21	37					0	0	1	0	0
CLCN3P1	100419056	broad.mit.edu	37	9	14997288	14997288	+	RNA	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:14997288T>G	ENST00000609203.1	-	0	1130																											CTTCTGGAAGTTCTGTGAAGA	0.368000													6	12					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1586967	1586967	+	Silent	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:1586967G>T	ENST00000397374.3	-	2	217	c.90C>A	c.(88-90)atC>atA	p.I30I	DUSP8_ENST00000331588.4_Silent_p.I30I	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	30	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCGGCTGTCGATGACCAGCG	0.662000													33	60					5.04308e-16	5.26577e-16	1	1	0
ODF2	4957	broad.mit.edu	37	9	131256911	131256911	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:131256911C>T	ENST00000434106.3	+	17	2238	c.1875C>T	c.(1873-1875)atC>atT	p.I625I	ODF2_ENST00000351030.3_Silent_p.I620I|ODF2_ENST00000448249.3_Silent_p.I544I|ODF2_ENST00000372791.3_Silent_p.I606I|ODF2_ENST00000372807.5_Silent_p.I620I|ODF2_ENST00000393527.3_Silent_p.I601I|ODF2_ENST00000393533.2_Silent_p.I625I|ODF2_ENST00000546203.1_Silent_p.I606I|ODF2_ENST00000372814.3_Silent_p.I669I|ODF2_ENST00000444119.2_Silent_p.I601I|ODF2_ENST00000604420.1_Silent_p.I625I	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAAGAACATCGACCTCACAG	0.597000													6	21					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172725288	172725288	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:172725288C>G	ENST00000422440.2	-	3	149	c.112G>C	c.(112-114)Gac>Cac	p.D38H	SLC25A12_ENST00000392592.4_5'UTR|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	38					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGAACAAAGTCTTCTGGGGTC	0.368000													26	47					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007112	56007112	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:56007112C>T	ENST00000429591.2	+	4	744	c.706C>T	c.(706-708)Ctt>Ttt	p.L236F	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCAACATATTCTTCTTACTGA	0.398000													3	45					0	0	1	0	0
FAM43B	163933	broad.mit.edu	37	1	20879526	20879526	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:20879526G>A	ENST00000332947.4	+	1	595	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	20										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		AGTGCAAGGCGAAGAGCCTGA	0.692000													4	9					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16202704	16202704	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:16202704G>A	ENST00000375759.3	+	3	616	c.412G>A	c.(412-414)Gat>Aat	p.D138N	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	138	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGGGCTTCAGATAACAGGGA	0.428000													18	35					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12588624	12588624	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:12588624G>T	ENST00000314565.4	+	3	596	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	LOH12CR1_ENST00000298571.6_Missense_Mutation_p.V41L|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.V70L	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	89										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CTCTCAGCAGGTGTTGCAGCT	0.428000													36	51					3.61848e-18	3.80628e-18	1	1	0
COG7	91949	broad.mit.edu	37	16	23453822	23453822	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:23453822C>T	ENST00000307149.5	-	4	765	c.580G>A	c.(580-582)Gcg>Acg	p.A194T		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	194					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTGAATGCCGCTACAATCTGT	0.458000													49	58					0	0	1	0	0
LOC728715	728715	broad.mit.edu	37	12	9711796	9711796	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:9711796G>A	ENST00000520314.1	+	0	377																											TTGCCTTGCAGAATCTGGTTG	0.408000													3	1					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46026348	46026348	+	Splice_Site	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:46026348C>G	ENST00000296137.2	-	2	260	c.55G>C	c.(55-57)Gat>Cat	p.D19H	FYCO1_ENST00000535325.1_Splice_Site_p.D19H	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	19					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTACCATACCTTGCAAGTCT	0.498000													13	27					0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367276	184367276	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:184367276G>A	ENST00000504169.1	+	3	646	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	147					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACGAGTTATAGAAGGAAAAAA	0.408000													28	7					0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232653303	232653303	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:232653303C>T	ENST00000373608.3	+	2	130	c.23C>T	c.(22-24)tCa>tTa	p.S8L	COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410017.1_Missense_Mutation_p.S8L|COPS7B_ENST00000410024.1_Missense_Mutation_p.S8L|COPS7B_ENST00000350033.3_Missense_Mutation_p.S8L	NM_001282950.1	NP_001269879.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	8					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGAAACCCTCAAGTAATCTC	0.468000													23	10					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32949224	32949224	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:32949224T>A	ENST00000340811.4	-	11	2284	c.2176A>T	c.(2176-2178)Act>Tct	p.T726S	PKP2_ENST00000070846.6_Missense_Mutation_p.T770S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	770					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGGGAGAGTTTCTTTGGCT	0.353000													15	20					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48096193	48096193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:48096193G>A	ENST00000264316.4	-	8	695	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	204	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTTTTTATCTGATAATGTTTT	0.388000													24	29					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909987	23909987	+	Silent	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:23909987T>A	ENST00000382298.3	-	10	8616	c.8028A>T	c.(8026-8028)acA>acT	p.T2676T	SACS_ENST00000382292.3_Silent_p.T2676T|SACS_ENST00000402364.1_Silent_p.T1926T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2676					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAGAACTGTGTCCTAAAAT	0.418000													24	24					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60088059	60088059	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:60088059C>T	ENST00000397786.2	-	9	1895	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	607					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCATCTTCTTCCAAGTTTACT	0.388000													28	69					0	0	1	0	0
CSRP1	1465	broad.mit.edu	37	1	201459425	201459425	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:201459425C>T	ENST00000367306.1	-	4	523	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CSRP1_ENST00000526723.1_Intron|CSRP1_ENST00000340006.2_Missense_Mutation_p.E54K|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000531916.1_Missense_Mutation_p.E54K|CSRP1_ENST00000533432.1_Missense_Mutation_p.E54K|CSRP1_ENST00000532460.1_Missense_Mutation_p.E54K			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	54	LIM zinc-binding 1.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						TAAATCTCCTCACCATGCACG	0.582000													18	56					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86544609	86544609	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:86544609G>A	ENST00000262426.4	+	1	477	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	145					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGCGGCTTCCGAAGGAAATGC	0.682000													36	54					0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12650384	12650384	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:12650384G>A	ENST00000251849.4	-	5	901	c.462C>T	c.(460-462)atC>atT	p.I154I	RAF1_ENST00000534997.1_5'UTR|RAF1_ENST00000542177.1_Silent_p.I73I|RAF1_ENST00000442415.2_Silent_p.I154I	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	154					activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATTTCTGACAGATGTCACAGA	0.413000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				6	22					0	0	1	0	0
HEPN1	641654	broad.mit.edu	37	11	124789836	124789836	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:124789836G>A	ENST00000408930.5	+	1	691	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	64						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		CCACTCCTATGAACTGTTCAA	0.488000													24	42					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24881981	24881981	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:24881981T>C	ENST00000313367.2	-	13	1769	c.1318A>G	c.(1318-1320)Agt>Ggt	p.S440G	OSBPL3_ENST00000431825.2_Missense_Mutation_p.S373G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S409G|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S404G|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S373G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S404G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S409G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	440					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GAGAGTCTACTTTCATTAGAA	0.363000													144	32					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105804634	105804634	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:105804634G>C	ENST00000393127.2	+	14	2679	c.2233G>C	c.(2233-2235)Gtg>Ctg	p.V745L	GRIA4_ENST00000282499.5_Missense_Mutation_p.V745L|GRIA4_ENST00000530497.1_Missense_Mutation_p.V745L|GRIA4_ENST00000525187.1_Missense_Mutation_p.V745L	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	745					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CACGATGAAAGTGGGAGGAAA	0.443000													9	42					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119102031	119102031	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:119102031C>T	ENST00000264245.4	+	6	1172	c.640C>T	c.(640-642)Caa>Taa	p.Q214*		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	214	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCATGTAGATCAAATCTTTAA	0.463000													31	26					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220161827	220161827	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:220161827G>A	ENST00000295718.2	-	15	2356	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	PTPRN_ENST00000423636.2_Missense_Mutation_p.R616W|PTPRN_ENST00000409251.3_Missense_Mutation_p.R677W	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	706					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGCGGTCCCGGTTCCGCAGG	0.632000													10	6					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1455391	1455391	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:1455391G>A	ENST00000535453.1	+	5	2244	c.531G>A	c.(529-531)tcG>tcA	p.S177S	APC2_ENST00000233607.2_Silent_p.S177S|APC2_ENST00000238483.4_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	177					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGTTCTCGATGCAGATGG	0.701000													8	6					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891636	45891636	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:45891636C>T	ENST00000443527.2	+	8	1312	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	CRY2_ENST00000417225.2_Silent_p.F348F	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	409	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						ATGCAGATTTCAGCGTGAACG	0.557000													42	53					0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16687442	16687442	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:16687442C>G	ENST00000263390.3	-	3	1461	c.1199G>C	c.(1198-1200)cGa>cCa	p.R400P	CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	400					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CGTATAGTCTCGAGGTCGGTA	0.587000													10	23					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121458561	121458561	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:121458561T>C	ENST00000257570.5	-	6	1618	c.1348A>G	c.(1348-1350)Atc>Gtc	p.I450V	OASL_ENST00000339275.5_3'UTR	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	450	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGGGGTTGATGGCATAGGCG	0.537000													22	31					0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600549	116600549	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:116600549C>T	ENST00000368608.3	-	1	517	c.445G>A	c.(445-447)Gag>Aag	p.E149K	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	149					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GCCTCAGCCTCCGCCCCCGCC	0.657000													36	14					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209964078	209964078	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:209964078G>A	ENST00000367021.3	-	7	994	c.822C>T	c.(820-822)gtC>gtT	p.V274V	IRF6_ENST00000542854.1_Silent_p.V179V	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	274			V -> I (common polymorphism; 3% in European-descended and 22% in Asian populations; responsible for 12% of the genetic contribution to cleft lip or palate; tripled the risk of recurrence in families that already had 1 affected child; dbSNP:rs2235371).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTGGGAATTTGACCTGCTCCA	0.572000										HNSCC(57;0.16)			35	57					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27462229	27462229	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:27462229C>A	ENST00000295736.5	-	10	1517	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	SLC4A7_ENST00000425128.2_Nonsense_Mutation_p.E475*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.E479*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.E368*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.E364*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.E475*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.E492*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.E479*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.E359*|SLC4A7_ENST00000388777.4_Nonsense_Mutation_p.E33*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.E364*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	483						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CGTCCAATTTCATGGTACTGT	0.358000													13	23					6.31663e-08	6.4357e-08	1	1	0
NAV2	89797	broad.mit.edu	37	11	19914086	19914086	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:19914086G>A	ENST00000396085.1	+	6	1238	c.877G>A	c.(877-879)Gat>Aat	p.D293N	NAV2_ENST00000396087.3_Missense_Mutation_p.D316N|NAV2_ENST00000540292.1_Missense_Mutation_p.D247N|NAV2_ENST00000349880.4_Missense_Mutation_p.D293N|NAV2_ENST00000527559.2_Missense_Mutation_p.D245N|NAV2_ENST00000360655.4_Missense_Mutation_p.D229N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	316						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAACAACTATGATAAATCCAA	0.547000													11	28					0	0	1	0	0
PLSCR1	5359	broad.mit.edu	37	3	146234843	146234843	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:146234843C>T	ENST00000342435.4	-	8	1260	c.850G>A	c.(850-852)Gac>Aac	p.D284N	PLSCR1_ENST00000484560.1_5'UTR|PLSCR1_ENST00000448787.2_Missense_Mutation_p.D203N|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000487389.1_Missense_Mutation_p.D277N	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	284					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACATCAAGGTCTAAAGGGAAC	0.378000													23	38					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2824754	2824754	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:2824754C>T	ENST00000397885.2	-	11	1303	c.1097G>A	c.(1096-1098)aGa>aAa	p.R366K		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	366	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CATGGCCACTCTGGCGCCATC	0.542000													3	14					0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89956069	89956069	+	Silent	SNP	G	G	C	rs138204033		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:89956069G>C	ENST00000320585.6	-	1	463	c.54C>G	c.(52-54)acC>acG	p.T18T	CHORDC1_ENST00000457199.2_Silent_p.T18T|CHORDC1_ENST00000530765.1_Silent_p.T18T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	18	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CGTCGGAATTGGTCTCAGGAT	0.642000													6	9					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27512587	27512587	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:27512587C>T	ENST00000356183.4	-	12	2001	c.1986G>A	c.(1984-1986)ttG>ttA	p.L662L	GTF3C1_ENST00000561623.1_Silent_p.L662L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	662						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTTCCGCACCAAGCGGACAA	0.522000													38	52					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52129560	52129560	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:52129560G>A	ENST00000596288.1	-	17	2415	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L	MCM3_ENST00000229854.7_Silent_p.L751L|MCM3_ENST00000419835.2_Silent_p.L705L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	751					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACACATCCAAGAGGGCCACCT	0.507000													35	62					0	0	1	0	0
SDCBP2	27111	broad.mit.edu	37	20	1293283	1293283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:1293283G>A	ENST00000360779.3	-	6	681	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	SDCBP2_ENST00000381808.3_Nonsense_Mutation_p.Q85*|SDCBP2_ENST00000339987.3_Nonsense_Mutation_p.Q170*|SDCBP2_ENST00000381812.1_Nonsense_Mutation_p.Q170*	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	170	PDZ 1.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TTCACCACCTGATGGGCTTTG	0.627000													18	20					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454572	48454572	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:48454572C>T	ENST00000358536.4	-	24	4811	c.4542G>A	c.(4540-4542)aaG>aaA	p.K1514K	PLXNB1_ENST00000296440.6_Silent_p.K1514K|PLXNB1_ENST00000448774.2_Silent_p.K125K|PLXNB1_ENST00000456774.1_Silent_p.K1331K|PLXNB1_ENST00000358459.4_Silent_p.K1331K	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1514					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTGCTTGCTCTTCCTCCTGC	0.602000													19	48					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40323517	40323517	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:40323517C>G	ENST00000326695.5	-	5	766	c.595G>C	c.(595-597)Gac>Cac	p.D199H	RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	199					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACAGGCTGTCTTTTCTCTTC	0.393000													47	54					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49705286	49705286	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:49705286A>G	ENST00000492622.2	+	5	571	c.266A>G	c.(265-267)aAt>aGt	p.N89S	FNDC3A_ENST00000398316.3_Missense_Mutation_p.N33S|FNDC3A_ENST00000541916.1_Missense_Mutation_p.N89S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	89	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATTGAAGACAATGGTGTTCGA	0.418000													21	44					0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43561765	43561765	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:43561765C>T	ENST00000372824.1	+	1	1563	c.45C>T	c.(43-45)atC>atT	p.I15I	PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217075.2_Silent_p.I15I|PABPC1L_ENST00000217073.2_Silent_p.I461I|PABPC1L_ENST00000255136.3_Silent_p.I461I|PABPC1L_ENST00000372819.1_Silent_p.I15I|PABPC1L_ENST00000490798.1_Intron			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	461	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CGGCCCACATCAGCAGTGTCA	0.642000													7	0					0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2934416	2934416	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:2934416C>T	ENST00000261596.4	-	8	1439	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	401					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TAAATATCATCAGGTCCCTGG	0.378000													54	78					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4722461	4722461	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:4722461C>A	ENST00000328914.4	+	1	522	c.522C>A	c.(520-522)ttC>ttA	p.F174L	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	174	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACGGGGCCTTCCAGAGACGCG	0.716000													5	0					0.000602214	0.000606489	1	1	0
MAP7D1	55700	broad.mit.edu	37	1	36636778	36636778	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:36636778G>C	ENST00000316156.4	+	2	706	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	MAP7D1_ENST00000373150.4_Missense_Mutation_p.E85Q|MAP7D1_ENST00000373151.2_Missense_Mutation_p.E85Q			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	85	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCCGCAGGAAGAGTCCCCTTC	0.642000													9	28					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9987919	9987919	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:9987919C>T	ENST00000412055.1	-	4	3067	c.2938G>A	c.(2938-2940)Gag>Aag	p.E980K		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	980						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTTCAAAGCTCGATGGTATCA	0.642000													14	12					0	0	1	0	0
SCARNA2	677766	broad.mit.edu	37	1	109642826	109642826	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:109642826G>A	ENST00000458748.1	+	0	12					NR_003023.1																						TTTTAGGGAGGGAGAGCGGCC	0.652000													6	14					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65494368	65494368	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:65494368C>T	ENST00000261883.4	-	8	1195		c.e8-1			NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase						negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATTATGATACCTGCAAGGGAT	0.527000													4	12					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101299924	101299924	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:101299924C>T	ENST00000519449.1	-	3	795	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	RNF19A_ENST00000341084.2_Missense_Mutation_p.R160Q	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	160					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TAAATATTGTCGTAAGCAATC	0.378000													116	49					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537230	5537230	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:5537230G>A	ENST00000380184.1	-	1	705	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	148										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGTGGGCCAGTTCCACTGGA	0.527000													45	31					0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699343	117699343	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:117699343G>C	ENST00000369458.3	-	3	376	c.298C>G	c.(298-300)Cgg>Ggg	p.R100G	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Missense_Mutation_p.R5G|VTCN1_ENST00000359008.4_Missense_Mutation_p.R103G|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	100	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		ACTGCTGTCCGGCCTCTGAAC	0.458000													8	48					0	0	1	0	0
KLC2	64837	broad.mit.edu	37	11	66031186	66031186	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:66031186C>T	ENST00000394065.2	+	4	1409	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	KLC2_ENST00000394078.1_Intron|KLC2_ENST00000417856.1_Missense_Mutation_p.R270W|KLC2_ENST00000421552.1_Missense_Mutation_p.R193W|KLC2_ENST00000394067.2_Missense_Mutation_p.R270W|KLC2_ENST00000394066.2_Missense_Mutation_p.R193W|KLC2_ENST00000316924.5_Missense_Mutation_p.R270W			Q9H0B6	KLC2_HUMAN	kinesin light chain 2	270					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TCTGGCCATCCGGGAGAAAAC	0.627000													13	18					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43408918	43408918	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:43408918T>C	ENST00000426263.3	-	2	271	c.93A>G	c.(91-93)ggA>ggG	p.G31G	SLC2A1_ENST00000415851.2_Silent_p.G31G|SLC2A1_ENST00000372500.3_Silent_p.G31G	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	31					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CATTGATGACTCCAGTGTTGT	0.567000													3	4					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	56					0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130549879	130549879	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:130549879G>A	ENST00000373265.2	+	3	608	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	CDK9_ENST00000373264.4_Missense_Mutation_p.R86Q|CDK9_ENST00000480353.1_3'UTR			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	86	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						GAGATTTGTCGAACCAAAGGT	0.433000													20	48					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10256234	10256234	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:10256234C>G	ENST00000280326.4	+	4	919	c.499C>G	c.(499-501)Cag>Gag	p.Q167E	CCT5_ENST00000506600.1_Missense_Mutation_p.Q74E|CCT5_ENST00000515390.1_Missense_Mutation_p.Q112E|CCT5_ENST00000515676.1_Missense_Mutation_p.Q129E|CCT5_ENST00000503026.1_Missense_Mutation_p.Q146E	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	167					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACCCCTGATTCAGACAGCAAA	0.473000													16	10					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742632	42742632	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:42742632C>G	ENST00000263805.4	-	2	2095	c.1769G>C	c.(1768-1770)aGt>aCt	p.S590T	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		CTCTCCATCACTTTCATCTTC	0.398000													4	112					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768307	88768307	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:88768307G>A	ENST00000444431.1	+	0	2907				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GAAAGGGAGTGACCCAGACAA	0.547000													87	138					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713576	138713576	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:138713576C>A	ENST00000389532.4	-	11	2995	c.2931G>T	c.(2929-2931)gaG>gaT	p.E977D	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E988D|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E699D|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	977						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGGCCAGGCTCTCTTTGTCCA	0.552000													9	41					9.05144e-12	9.3056e-12	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54305999	54305999	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:54305999G>T	ENST00000545554.1	+	1	899	c.899G>T	c.(898-900)aGg>aTg	p.R300M	UNC13C_ENST00000260323.11_Missense_Mutation_p.R300M|UNC13C_ENST00000537900.1_Missense_Mutation_p.R300M			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	300					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGTCTCGGAGGGAAACTAGA	0.428000													36	44					1.69901e-12	1.75307e-12	1	1	0
ZMIZ1	57178	broad.mit.edu	37	10	81065869	81065869	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:81065869A>G	ENST00000334512.5	+	22	3008	c.2436A>G	c.(2434-2436)gaA>gaG	p.E812E		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	812					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCGAGTTTGAAGAGGTCACCA	0.617000													16	25					0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563822	84563822	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:84563822G>A	ENST00000369689.1	+	3	332	c.181G>A	c.(181-183)Gat>Aat	p.D61N	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.D3N	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	61					somite rostral/caudal axis specification	nucleus		p.D61N(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						CCAGATGCCCGATGGCCCTGG	0.577000													25	12					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74411338	74411338	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:74411338C>T	ENST00000286544.3	-	3	1012	c.814G>A	c.(814-816)Gag>Aag	p.E272K	FAM161B_ENST00000534936.1_Missense_Mutation_p.E209K	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CACTCGGCCTCTTCCTCACCC	0.667000													21	7					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127797157	127797157	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:127797157G>A	ENST00000556132.1	-	6	2878	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C	SOGA3_ENST00000525778.1_Missense_Mutation_p.R672C|SOGA3_ENST00000481848.2_Missense_Mutation_p.R672C|SOGA3_ENST00000465909.2_Missense_Mutation_p.R672C|SOGA3_ENST00000368268.2_Missense_Mutation_p.R672C	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	672						integral to membrane											GCCGTGATGCGCTTGTTCTGC	0.652000													23	12					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40021101	40021101	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40021101C>T	ENST00000319121.3	-	1	583	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	175						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCCAGCACCTCGTGCACGCTG	0.706000													12	21					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967452	21967452	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:21967452C>T	ENST00000298717.4	-	9	1667	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	506					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GCACATACCTCAGCTACGATC	0.433000													17	5					0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131865326	131865326	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:131865326C>T	ENST00000318080.2	-	4	724	c.430G>A	c.(430-432)Gag>Aag	p.E144K	CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	144					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AACACACCCTCAATGAGTTTG	0.562000													38	32					0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41633826	41633826	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:41633826G>A	ENST00000331105.2	+	10	1387	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	439					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GTGCCTGGGAGAGTCGCTGGC	0.637000													7	10					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220825334	220825334	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:220825334G>A	ENST00000402574.1	+	15	2175	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	MARK1_ENST00000366917.4_Silent_p.T526T|MARK1_ENST00000366918.4_Silent_p.T504T	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	526					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAAGCCTTACGGAGATGTCTG	0.428000													68	52					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69672699	69672699	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:69672699A>C	ENST00000212015.6	+	8	1879	c.1826A>C	c.(1825-1827)gAg>gCg	p.E609A	SIRT1_ENST00000406900.1_Missense_Mutation_p.E306A|SIRT1_ENST00000432464.1_Missense_Mutation_p.E314A|SIRT1_ENST00000403579.1_Missense_Mutation_p.E306A	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	609					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AGTACTGGGGAGAAAAATGAA	0.418000													22	38					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370473	240370473	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:240370473G>A	ENST00000319653.9	+	5	2591	c.2361G>A	c.(2359-2361)ttG>ttA	p.L787L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	787	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGATTTCTTTGATTGTGTCTC	0.567000													17	33					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150668014	150668014	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:150668014A>T	ENST00000335230.3	-	5	833	c.422T>A	c.(421-423)tTa>tAa	p.L141*	SLC36A3_ENST00000377713.3_Nonsense_Mutation_p.L182*	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	141						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGACTAATAAGAAGCTGAC	0.408000													28	34					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7840338	7840338	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:7840338C>T	ENST00000420658.1	-	6	911	c.639G>A	c.(637-639)aaG>aaA	p.K213K	AFAP1_ENST00000360265.4_Silent_p.K213K|AFAP1_ENST00000358461.2_Silent_p.K213K|AFAP1_ENST00000382543.3_Silent_p.K213K	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	213	PH 1.					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						GCTCGTGCTTCTTCTTTTTGC	0.527000													108	90					0	0	1	0	0
C20orf166	128826	broad.mit.edu	37	20	61167812	61167812	+	Silent	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:61167812G>C	ENST00000370527.3	+	4	1061	c.282G>C	c.(280-282)ctG>ctC	p.L94L	C20orf166_ENST00000370523.1_Silent_p.L76L|C20orf166_ENST00000370524.2_Silent_p.L76L	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	94										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			CATCTGTGCTGACCAGGGCTG	0.602000													8	46					0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27222559	27222559	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:27222559A>C	ENST00000006015.3	-	2	869	c.798T>G	c.(796-798)atT>atG	p.I266M		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	266					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCTCTTTGTTAATGTAGACGC	0.493000			T	NUP98	CML								88	17					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000396	11000396	+	Silent	SNP	T	T	C	rs144735718		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:11000396T>C	ENST00000324288.8	+	11	1180	c.1047T>C	c.(1045-1047)taT>taC	p.Y349Y	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	349					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGGACACGTATGGTGCCGAGC	0.667000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								6	20					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11806177	11806177	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:11806177C>T	ENST00000262442.4	+	60	11616	c.11548C>T	c.(11548-11550)Cgc>Tgc	p.R3850C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3850C|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.R162C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCCCTGCAGCGCCTCTGCAT	0.567000													10	50					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62624779	62624779	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:62624779G>A	ENST00000535781.1	+	4	490	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	127					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GGAGAAAGAAGAAATAGAGAA	0.423000													28	2					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4150341	4150341	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:4150341A>G	ENST00000404826.2	+	23	3510	c.3371A>G	c.(3370-3372)gAg>gGg	p.E1124G	SDK1_ENST00000389531.3_Missense_Mutation_p.E1124G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1124	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCTATGAAGAGGAGAATGAG	0.552000													20	3					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129839166	129839166	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:129839166C>T	ENST00000254667.3	+	3	300	c.21C>T	c.(19-21)ctC>ctT	p.L7L	PTPRE_ENST00000419012.2_Silent_p.L7L|PTPRE_ENST00000471218.1_Silent_p.L7L|PTPRE_ENST00000430713.2_Silent_p.L7L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	7					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGTCCACTCCTGCTGGTGG	0.627000													6	18					0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24538738	24538738	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:24538738C>T	ENST00000336812.4	-	11	2001	c.1845G>A	c.(1843-1845)atG>atA	p.M615I	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	615					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GGGCAAATCTCATCTTGGCCT	0.463000													25	45					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79327530	79327530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:79327530G>A	ENST00000419573.3	-	6	1175	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.Q301*|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	301	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TAAAAGATCTGATGTAAAAAC	0.582000													10	7					0	0	1	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987613	50987613	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:50987613G>A	ENST00000395676.2	+	1	1152	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	340										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGTGCCCGAGGAGGCCCC	0.692000													49	11					0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112653878	112653878	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:112653878C>T	ENST00000393104.2	+	10	1347	c.987C>T	c.(985-987)ctC>ctT	p.L329L	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Silent_p.L340L	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	340	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AATATTTACTCTCTGGAGACA	0.353000													30	51					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628736	71628736	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:71628736G>C	ENST00000377276.2	-	1	303	c.273C>G	c.(271-273)aaC>aaG	p.N91K		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	91	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCGCTTCTCGTTCAGTATGT	0.547000													37	33					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106729476	106729476	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:106729476C>G	ENST00000299045.3	+	7	1006	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	278										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ATTATTTTCTCTTTCTGAGAG	0.393000													21	44					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43306424	43306424	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:43306424C>T	ENST00000361428.2	-	10	5389	c.5312G>A	c.(5311-5313)aGa>aAa	p.R1771K	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1771					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCACTTTCTCTACAATCCTC	0.433000													26	77					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155014	151155014	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:151155014G>A	ENST00000282466.3	-	6	7334	c.7335C>T	c.(7333-7335)atC>atT	p.I2445I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2445	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCTCCACTGATGCCTTTTA	0.403000													57	62					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231947677	231947677	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:231947677A>T	ENST00000308696.6	+	13	1656	c.1494A>T	c.(1492-1494)aaA>aaT	p.K498N	PSMD1_ENST00000409643.1_Missense_Mutation_p.K498N|PSMD1_ENST00000373635.4_Missense_Mutation_p.K498N	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	498					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ATTTGCTAAAAACAAACCTTT	0.358000													15	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411916	179411916	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:179411916C>T	ENST00000589042.1	-	340	94560	c.94336G>A	c.(94336-94338)Gag>Aag	p.E31446K	TTN_ENST00000342992.6_Missense_Mutation_p.E28878K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22506K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22381K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22573K|TTN_ENST00000591111.1_Missense_Mutation_p.E29805K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29805	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTCTCAACCCAGTAG	0.428000													66	116					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023653	6023653	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:6023653G>A	ENST00000330728.4	-	1	771	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCACAAGAGAGTTTGGACA	0.433000													11	28					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74685422	74685422	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:74685422T>C	ENST00000380494.5	-	13	1956	c.1663A>G	c.(1663-1665)Atg>Gtg	p.M555V	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.M401V|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.M427V	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	427	START.				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATTACCTTCATTTCTCCTTCT	0.403000													18	26					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120660367	120660367	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:120660367G>A	ENST00000536957.1	-	5	1149	c.674C>T	c.(673-675)tCc>tTc	p.S225F	PXN_ENST00000424649.2_Missense_Mutation_p.S227F|PXN_ENST00000458477.2_Missense_Mutation_p.S94F|PXN_ENST00000267257.7_Missense_Mutation_p.S227F|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.S227F			P49023	PAXI_HUMAN	paxillin	227					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGGCACGGAGCTCTCCAG	0.677000													3	7					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52790074	52790074	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:52790074C>T	ENST00000216862.3	-	1	438	c.45G>A	c.(43-45)ctG>ctA	p.L15L	CYP24A1_ENST00000395955.3_Silent_p.L15L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	15					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCAGCTGCTGCAGGAAGGCGG	0.692000													6	0					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123380553	123380553	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:123380553G>A	ENST00000267202.2	-	1	438	c.57C>T	c.(55-57)aaC>aaT	p.N19N		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	19					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716000													22	38					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628734	71628734	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:71628734T>C	ENST00000377276.2	-	1	305	c.275A>G	c.(274-276)gAg>gGg	p.E92G		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	92	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GATGCGCTTCTCGTTCAGTAT	0.552000													37	33					0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723250	48723250	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:48723250G>A	ENST00000335017.1	+	1	488	c.176G>A	c.(175-177)aGa>aAa	p.R59K		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	59					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TCCGTGCTCAGAGTGTCCCAG	0.622000													13	7					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149522477	149522477	+	RNA	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:149522477C>G	ENST00000378016.2	+	0	14107							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCTGCCGCCCAGGTAGCCA	0.652000													4	58					0	0	1	0	0
BLOC1S4	55330	broad.mit.edu	37	4	6718464	6718464	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:6718464G>A	ENST00000320776.3	+	1	623	c.528G>A	c.(526-528)acG>acA	p.T176T		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino																		TCCTGCACACGATGAACGTGC	0.642000													9	51					0	0	1	0	0
TAF13	6884	broad.mit.edu	37	1	109608820	109608820	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:109608820C>T	ENST00000338366.5	-	3	195	c.141G>A	c.(139-141)caG>caA	p.Q47Q		NM_005645.3	NP_005636.1	Q15543	TAF13_HUMAN	TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa	47					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		TATAAGGATTCTGGTCATCCC	0.318000													42	66					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54666777	54666777	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:54666777T>C	ENST00000376591.4	-	9	1542	c.1411A>G	c.(1411-1413)Aaa>Gaa	p.K471E	TMC4_ENST00000416963.1_Missense_Mutation_p.K53E|TMC4_ENST00000301187.4_Missense_Mutation_p.K465E	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	471						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAAGTTGTTTGTAATTGTAG	0.572000													21	37					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41366603	41366603	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:41366603C>T	ENST00000361937.3	-	10	1716	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	INO80_ENST00000401393.3_Missense_Mutation_p.G431E			Q9ULG1	INO80_HUMAN	INO80 complex subunit	431	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACCACTCCTCCACCTATATC	0.413000													38	47					0	0	1	0	0
GPN2	54707	broad.mit.edu	37	1	27216180	27216180	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:27216180G>A	ENST00000374135.4	-	1	608	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	136							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GACGCACCCTGAGGTCCCACT	0.642000													19	35					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74833502	74833502	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:74833502C>G	ENST00000412021.2	-	4	493	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	P4HA1_ENST00000394890.2_Missense_Mutation_p.E54Q|P4HA1_ENST00000440381.1_Missense_Mutation_p.E54Q|P4HA1_ENST00000263556.3_Missense_Mutation_p.E54Q|RP11-344N10.2_ENST00000431293.2_RNA|P4HA1_ENST00000307116.2_Missense_Mutation_p.E54Q|P4HA1_ENST00000373008.2_Missense_Mutation_p.E54Q	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	54						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTATTTGTTCTAACTTGTCC	0.338000													29	50					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88197319	88197319	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:88197319T>G	ENST00000298767.5	-	19	4026	c.3554A>C	c.(3553-3555)gAa>gCa	p.E1185A	WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000372075.1_Missense_Mutation_p.E397A|WAPAL_ENST00000263070.7_Missense_Mutation_p.E397A	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1185					cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCCAAATATTCAATCACTCT	0.398000													27	32					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30621093	30621093	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:30621093C>T	ENST00000376442.3	-	20	3247	c.3052G>A	c.(3052-3054)Gcc>Acc	p.A1018T	DHX16_ENST00000376437.5_Missense_Mutation_p.A537T	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	1018					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AGCTCCTTGGCCTTATAATAA	0.448000													31	34					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54561595	54561595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:54561595G>C	ENST00000338372.2	-	3	495	c.320C>G	c.(319-321)tCa>tGa	p.S107*	VSTM1_ENST00000425006.2_Nonsense_Mutation_p.S107*|VSTM1_ENST00000376626.1_Nonsense_Mutation_p.S107*|VSTM1_ENST00000366170.2_Intron	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	107	Ig-like V-type.					integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ACTGCTTTCTGACCACTCATG	0.473000													20	28					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667356	122667356	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:122667356C>G	ENST00000195173.4	-	3	628	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.E109Q|SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E163Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	109	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCTTACCTTCAAAGGCCACG	0.577000													7	17					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1980006	1980006	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:1980006G>A	ENST00000255641.8	+	11	1678	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	395					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGTGGCCGATGAAACCAA	0.706000													5	8					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:53855284G>A	ENST00000458035.1	+	4	1473	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000595091.1_Silent_p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398000													5	122					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60744209	60744209	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:60744209C>T	ENST00000303375.5	+	5	1353	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	317	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACTCGCCCCTCAAGTACCTCA	0.632000													17	14					0	0	1	0	0
ZNF431	170959	broad.mit.edu	37	19	21366286	21366286	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:21366286C>T	ENST00000311048.7	+	5	1324	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TAAAAGAATTCATACTGGAGA	0.353000													19	35					0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26712215	26712215	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:26712215C>T	ENST00000457710.3	+	5	1920	c.1449C>T	c.(1447-1449)cgC>cgT	p.R483R	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	517					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGCTGCACCGCGTGTCTGAGC	0.716000													12	5					0	0	1	0	0
OR8G1	26494	broad.mit.edu	37	11	124120462	124120462	+	RNA	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:124120462C>T	ENST00000341493.2	+	0	40				OR8G1_ENST00000534473.2_RNA	NM_001002905.1	NP_001002905.1	Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		TGAGTTCATTCTGGCTGGGCT	0.493000													14	20					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176752053	176752053	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:176752053A>C	ENST00000430069.1	-	13	1442	c.1183T>G	c.(1183-1185)Tat>Gat	p.Y395D	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Y395D			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	395					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTGATAGTATAAATTTCTTTA	0.308000													7	26					0	0	1	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952366	95952366	+	Silent	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:95952366G>C	ENST00000342697.4	-	3	602	c.195C>G	c.(193-195)gtC>gtG	p.V65V	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Silent_p.V65V|TP53INP1_ENST00000378776.4_Silent_p.V65V	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	65					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AACAGGAAAAGACTGAAGGGT	0.458000													7	46					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459790	9459790	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:9459790G>A	ENST00000379719.3	+	22	2795	c.2653G>A	c.(2653-2655)Gac>Aac	p.D885N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	885	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACATGAGAATGACAGtgatga	0.373000													45	39					0	0	1	0	0
LSM2	57819	broad.mit.edu	37	6	31773865	31773865	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:31773865T>G	ENST00000375661.5	-	2	284	c.58A>C	c.(58-60)Aag>Cag	p.K20Q	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	20					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						AGGTCATTCTTTAGTTCCACG	0.488000													19	14					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215852369	215852369	+	Splice_Site	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:215852369A>C	ENST00000272895.7	-	27	4196		c.e27+1		ABCA12_ENST00000389661.4_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GACTTGTCTTACTGGCAGATG	0.393000													13	8					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109042596	109042596	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:109042596C>T	ENST00000261401.3	-	10	1262	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	CORO1C_ENST00000420959.2_Missense_Mutation_p.D417N|CORO1C_ENST00000541050.1_Missense_Mutation_p.D364N|CORO1C_ENST00000549772.1_Missense_Mutation_p.D370N|CORO1C_ENST00000421578.2_Missense_Mutation_p.D259N|CORO1C_ENST00000549384.1_5'UTR	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	364					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCCGCTGTGTCAGGATACAGG	0.502000													28	30					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459784	9459784	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:9459784G>A	ENST00000379719.3	+	22	2789	c.2647G>A	c.(2647-2649)Gag>Aag	p.E883K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	883					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGCAGAACATGAGAATGACAG	0.368000													48	41					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179494485	179494485	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:179494485T>G	ENST00000367618.3	+	22	2900	c.2513T>G	c.(2512-2514)tTc>tGc	p.F838C		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	838	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTAAAAGAATTCATTGAGCCT	0.318000													4	21					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63709529	63709529	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:63709529G>C	ENST00000421025.1	+	2	303	c.34G>C	c.(34-36)Gaa>Caa	p.E12Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.E12Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGGAAGCCGAGAAATGGTGAG	0.572000													28	4					0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112282361	112282361	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:112282361G>A	ENST00000492406.1	+	2	394	c.111G>A	c.(109-111)gtG>gtA	p.V37V	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	37						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TCTTACTAGTGAAGTATTCTG	0.388000													11	31					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776055	5776055	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:5776055A>G	ENST00000317254.3	+	1	133	c.85A>G	c.(85-87)Att>Gtt	p.I29V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ACAACTCTGGATTTCCTTCCC	0.438000													15	37					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65445215	65445215	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:65445215C>G	ENST00000286574.4	-	10	1428	c.1054G>C	c.(1054-1056)Gca>Cca	p.A352P		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	352					multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGGGCGCCTGCTGGCCTCAGG	0.498000			T	HMGA2	pleomorphic salivary gland adenoma								25	37					0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171077281	171077281	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:171077281C>T	ENST00000367755.4	+	5	657	c.546C>T	c.(544-546)ttC>ttT	p.F182F	FMO3_ENST00000392085.2_Silent_p.F182F|FMO3_ENST00000538429.1_Silent_p.F119F|FMO3_ENST00000542847.1_Silent_p.F162F	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	182					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGGTGTATTCAATGGAAAGC	0.483000													27	44					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959137	25959137	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:25959137G>A	ENST00000356865.6	-	10	2139	c.2028C>T	c.(2026-2028)aaC>aaT	p.N676N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	676					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCGAGGCCCAGTTGTCCGCCT	0.687000													7	15					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196799722	196799722	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:196799722G>A	ENST00000320493.5	+	5	788	c.700G>A	c.(700-702)Gag>Aag	p.E234K	CFHR1_ENST00000367424.4_Missense_Mutation_p.E175K|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	234	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TTCATCAGTTGAGTACCAATG	0.418000													34	101					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38420870	38420870	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:38420870C>T	ENST00000323571.4	+	5	682	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	WIPF2_ENST00000585043.1_Silent_p.L148L|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Silent_p.L148L|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	148						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						ACTCCCAGAACTGCCCCGGAT	0.632000										HNSCC(43;0.11)			13	91					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118517210	118517210	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:118517210T>G	ENST00000359236.5	-	4	1142	c.866A>C	c.(865-867)aAg>aCg	p.K289T		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	289	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGTAACACACTTGAACTTCTT	0.537000													14	38					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110018	57110018	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:57110018C>T	ENST00000454682.1	-	3	5577	c.5296G>A	c.(5296-5298)Gag>Aag	p.E1766K	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCTTAGACTCAGGAGGAGCC	0.542000			T	BCL6	NHL								16	31					0	0	1	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31811809	31811809	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:31811809A>G	ENST00000373714.1	+	5	492	c.231A>G	c.(229-231)aaA>aaG	p.K77K	ZCCHC17_ENST00000344147.5_Silent_p.K77K|ZCCHC17_ENST00000546109.1_Silent_p.K69K|ZCCHC17_ENST00000422613.2_Silent_p.K53K|RP11-266K22.2_ENST00000430143.1_RNA|ZCCHC17_ENST00000479629.1_3'UTR	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	77	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		TTCAGATGAAAAATGATAGAA	0.333000													4	39					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117129888	117129888	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:117129888C>T	ENST00000307564.4	-	6	1824	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	AKNA_ENST00000374075.5_Missense_Mutation_p.E474K|AKNA_ENST00000374088.3_Missense_Mutation_p.E555K|AKNA_ENST00000312033.3_Missense_Mutation_p.E555K|AKNA_ENST00000223791.3_Missense_Mutation_p.E15K	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GACTGGTCCTCAGAGATGTCC	0.622000													10	26					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51824753	51824753	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:51824753T>C	ENST00000371117.3	-	36	6098	c.5823A>G	c.(5821-5823)caA>caG	p.Q1941Q	PKHD1_ENST00000340994.4_Silent_p.Q1941Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1941	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTCGCCATCTTGTGGCAGCC	0.493000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179391763	179391763	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:179391763C>T	ENST00000589042.1	-	363	108176	c.107952G>A	c.(107950-107952)gtG>gtA	p.V35984V	TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Silent_p.V33416V|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Silent_p.V27044V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.V26919V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V27111V|TTN_ENST00000591111.1_Silent_p.V34343V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34343							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGTATATTCACAGTGGCAG	0.413000													11	11					0	0	1	0	0
C8G	733	broad.mit.edu	37	9	139840549	139840549	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:139840549G>A	ENST00000224181.3	+	4	419	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	120					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CGAGACGCCCGAGGGGCTGTG	0.642000													12	16					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834243	101834243	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:101834243C>G	ENST00000263468.8	+	6	2747	c.2477C>G	c.(2476-2478)cCt>cGt	p.P826R	KIAA1377_ENST00000537689.1_Missense_Mutation_p.P627R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	826							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCAGTAACTCCTGAAAATCCT	0.343000													17	29					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8448777	8448777	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:8448777C>G	ENST00000360416.3	-	13	1558	c.1420G>C	c.(1420-1422)Gaa>Caa	p.E474Q	MYH10_ENST00000269243.4_Missense_Mutation_p.E464Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E464Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E480Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	464	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCAAAAATTTCAAATCCAGCA	0.438000													28	48					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112677687	112677687	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:112677687G>A	ENST00000550722.1	-	33	5060	c.4665C>T	c.(4663-4665)acC>acT	p.T1555T	HECTD4_ENST00000430131.2_Silent_p.T1279T|HECTD4_ENST00000377560.5_Silent_p.T1529T	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTACTTACCTGGTGTAAGGTA	0.393000													21	29					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49364094	49364094	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:49364094C>T	ENST00000301061.4	-	3	463	c.115G>A	c.(115-117)Gag>Aag	p.E39K	WNT10B_ENST00000407467.1_Missense_Mutation_p.E39K|WNT10B_ENST00000403957.1_Missense_Mutation_p.E39K	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	39					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGCGGCGGCTCGCCAGGCAAC	0.667000													7	14					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300528	21300528	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:21300528C>T	ENST00000596143.1	+	5	1383	c.1058C>T	c.(1057-1059)tCa>tTa	p.S353L	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AATGTGTCTTCACACCTTACT	0.373000													25	41					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275001	58275001	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:58275001C>A	ENST00000360374.2	-	1	577	c.578G>T	c.(577-579)aGc>aTc	p.S193I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACCAACTTGCTGATGCGTGT	0.463000													5	15					0.014758	0.014784	1	1	0
ADAMTSL5	339366	broad.mit.edu	37	19	1506189	1506189	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:1506189T>C	ENST00000330475.4	-	12	1684	c.1241A>G	c.(1240-1242)cAc>cGc	p.H414R	ADAMTSL5_ENST00000395467.2_3'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.H424R|ADAMTSL5_ENST00000590562.1_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	414	NTR.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGGCAGTGGCCTGGCGC	0.682000													9	18					0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55611487	55611487	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:55611487G>A	ENST00000164305.5	+	1	330	c.39G>A	c.(37-39)ggG>ggA	p.G13G	PIGB_ENST00000569909.1_3'UTR|PIGB_ENST00000539642.1_5'UTR	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	13					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TGGAGCCGGGGGGCGGAGATG	0.587000													4	10					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159894425	159894425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:159894425G>A	ENST00000434826.2	-	2	187	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	35										large_intestine(2)|lung(3)	5						GAGGTGTGCTGATGAATTTTG	0.363000													8	7					0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611487	17611487	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:17611487C>T	ENST00000381869.3	-	2	2303	c.1830G>A	c.(1828-1830)tcG>tcA	p.S610S	MTUS1_ENST00000519263.1_Silent_p.S610S|MTUS1_ENST00000262102.6_Silent_p.S610S|MTUS1_ENST00000381862.3_Silent_p.S610S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	610						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTCCTGATTCGATTTCACGG	0.433000													84	33					0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1860931	1860931	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:1860931G>C	ENST00000381906.1	+	2	74	c.5G>C	c.(4-6)gGa>gCa	p.G2A	TNNI2_ENST00000252898.7_Missense_Mutation_p.G2A|TNNI2_ENST00000381911.1_Missense_Mutation_p.G2A	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	2	Involved in binding TNC.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTCAGGATGGGAGAGTAAGTG	0.627000													12	18					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67337122	67337122	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:67337122T>A	ENST00000371026.3	-	6	926	c.871A>T	c.(871-873)Atg>Ttg	p.M291L	WDR78_ENST00000431318.1_Missense_Mutation_p.M37L|WDR78_ENST00000371023.3_Missense_Mutation_p.M291L|WDR78_ENST00000371022.3_Missense_Mutation_p.M291L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	291										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AAAGTCTGCATCATCCTTTCA	0.308000													53	71					0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279428	279428	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:279428G>A	ENST00000382352.3	+	1	1692	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	401							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTAACCGGCGTGGCCGGGCA	0.542000													9	20					0	0	1	0	0
TMEM80	283232	broad.mit.edu	37	11	703000	703000	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:703000C>T	ENST00000608174.1	+	5	494	c.357C>T	c.(355-357)ctC>ctT	p.L119L	TMEM80_ENST00000397512.3_Silent_p.L111L|TMEM80_ENST00000397510.3_Silent_p.L167L	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80							integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGGCCCTCACGGCTGGCA	0.692000													12	14					0	0	1	0	0
GLTPD2	388323	broad.mit.edu	37	17	4692541	4692541	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:4692541C>G	ENST00000331264.7	+	2	180	c.127C>G	c.(127-129)Ccc>Gcc	p.P43A		NM_001014985.2	NP_001014985			glycolipid transfer protein domain containing 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						GGGCTGCGGACCCAGGGCGCA	0.697000													6	8					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98273333	98273333	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:98273333G>A	ENST00000357947.3	-	1	335	c.110C>T	c.(109-111)tCa>tTa	p.S37L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	37					cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTCCAGCTCTGAGTAGTCTGC	0.697000													8	14					0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99957141	99957141	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:99957141G>A	ENST00000448382.1	+	8	1910	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	PILRB_ENST00000610247.1_Silent_p.L212L|PILRB_ENST00000452089.1_Silent_p.L212L|PILRB_ENST00000609309.1_Silent_p.L212L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Silent_p.L212L			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCCTCCTGTGGTGGAGGA	0.552000													32	8					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3161037	3161037	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:3161037G>A	ENST00000381075.2	+	17	1706	c.1482G>A	c.(1480-1482)gcG>gcA	p.A494A	PFKP_ENST00000381125.4_Silent_p.A502A	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	502					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GCATCAACGCGCTGCTGATCA	0.547000													16	30					0	0	1	0	0
SLCO1B7	338821	broad.mit.edu	37	12	21172253	21172253	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:21172253G>T	ENST00000421593.2	+	2	157	c.157G>T	c.(157-159)Ggt>Tgt	p.G53C	SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Intron|LST3_ENST00000381541.3_Intron	NM_001009562.4	NP_001009562.3			solute carrier organic anion transporter family, member 1B7 (non-functional)											endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AATTGGAATTGGTTGTTTTCT	0.333000													10	37					7.48243e-07	7.57588e-07	1	1	0
SYT12	91683	broad.mit.edu	37	11	66813215	66813215	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:66813215A>G	ENST00000393946.2	+	10	2121	c.959A>G	c.(958-960)gAc>gGc	p.D320G	SYT12_ENST00000527043.1_Splice_Site_p.D320G|SYT12_ENST00000525457.1_Splice_Site_p.D320G			Q8IV01	SYT12_HUMAN	synaptotagmin XII	320	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGCCCACAGACCCCTTCGTC	0.582000													3	9					0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84233553	84233553	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:84233553C>T	ENST00000536636.1	+	3	738	c.393C>T	c.(391-393)ttC>ttT	p.F131F	PRSS35_ENST00000369700.3_Silent_p.F131F	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	131	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ACAGCAGGTTCAGCATCTTGG	0.458000													35	15					0	0	1	0	0
YIPF5	81555	broad.mit.edu	37	5	143549507	143549507	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:143549507C>T	ENST00000274496.5	-	2	147	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	YIPF5_ENST00000448443.2_Missense_Mutation_p.E5K|YIPF5_ENST00000513112.1_Intron	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	5					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TTTAAGTTTTCAAAGCCTGAC	0.403000													23	49					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190106205	190106205	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:190106205G>C	ENST00000264734.2	+	1	545	c.297G>C	c.(295-297)tgG>tgC	p.W99C	CLDN16_ENST00000456423.1_Missense_Mutation_p.W99C|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	99					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGACTGTTGGATGGTGAATG	0.473000													35	186					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175717039	175717039	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:175717039G>T	ENST00000443967.1	+	4	862	c.455G>T	c.(454-456)aGc>aTc	p.S152I	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000429602.2_Missense_Mutation_p.S171I|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1																		GGTAACCTCAGCTTCTTGGCA	0.498000													4	8					1.23904e-05	1.25117e-05	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144808766	144808766	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:144808766C>T	ENST00000388913.3	-	5	2990	c.2865G>A	c.(2863-2865)ccG>ccA	p.P955P		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	955					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGGGCCGCTCGGCCCCTCCT	0.716000													21	10					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111456	142111456	+	RNA	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:142111456C>T	ENST00000390378.1	-	0	279																											ACATTCAGCTCAGAGCTATAG	0.483000													81	16					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25923931	25923931	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:25923931C>T	ENST00000377850.3	-	3	756	c.232G>A	c.(232-234)Gat>Aat	p.D78N	SLC17A2_ENST00000265425.3_Missense_Mutation_p.D78N|SLC17A2_ENST00000360488.3_Missense_Mutation_p.D78N			O00624	NPT3_HUMAN	solute carrier family 17, member 2	78					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ACCTTTGTATCAAATTCCTTG	0.418000													93	65					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940185	36940185	+	Silent	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:36940185G>T	ENST00000454319.1	-	5	1088	c.954C>A	c.(952-954)ggC>ggA	p.G318G	ZNF566_ENST00000392170.2_Silent_p.G318G|ZNF566_ENST00000493391.1_Silent_p.G213G|ZNF566_ENST00000434377.2_Silent_p.G317G|ZNF566_ENST00000424129.2_Silent_p.G317G	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TAAAGGCATTGCCACATTCCT	0.393000													31	59					1.06647e-15	1.11254e-15	1	1	0
GGCX	2677	broad.mit.edu	37	2	85788054	85788054	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:85788054C>T	ENST00000233838.4	-	2	178	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	GGCX_ENST00000430215.3_Intron	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TTTCCCTATTCGGCTGTCCTG	0.517000													92	78					0	0	1	0	0
THOC3	84321	broad.mit.edu	37	5	175395180	175395180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:175395180G>T	ENST00000513482.1	-	1	103	c.32C>A	c.(31-33)tCg>tAg	p.S11*	THOC3_ENST00000265097.4_Nonsense_Mutation_p.S11*|THOC3_ENST00000514861.1_Intron			Q96J01	THOC3_HUMAN	THO complex 3	11					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	transcription export complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GCCCAACGCCGAGGGCCCCAT	0.716000													5	6					1.23904e-05	1.25117e-05	1	1	0
RYR1	6261	broad.mit.edu	37	19	38948880	38948880	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:38948880G>A	ENST00000355481.4	+	18	2246	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	RYR1_ENST00000360985.3_Silent_p.G705G|RYR1_ENST00000359596.3_Silent_p.G705G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	705	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGGCAACGGGGTCGGCGATG	0.657000													26	36					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079412	74079412	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:74079412C>T	ENST00000370359.5	-	1	103	c.104G>A	c.(103-105)cGc>cAc	p.R35H	OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	35						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGCCGGATGCGAATCTGTGG	0.622000													39	60					0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14124349	14124349	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:14124349C>A	ENST00000589498.1	-	2	280	c.130G>T	c.(130-132)Gag>Tag	p.E44*	ZNF519_ENST00000590202.1_Splice_Site_p.A44S|ZNF519_ENST00000589203.1_Intron			Q8TB69	ZN519_HUMAN	zinc finger protein 519	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TTATTCTCACCCAGGGAGACG	0.388000													27	47					1.13719e-10	1.1649e-10	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72152083	72152083	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:72152083G>A	ENST00000356056.5	-	34	6618	c.6146C>T	c.(6145-6147)tCt>tTt	p.S2049F	MYO9A_ENST00000444904.1_Missense_Mutation_p.S2030F|MYO9A_ENST00000424560.1_Missense_Mutation_p.S2120F|MYO9A_ENST00000564571.1_Missense_Mutation_p.S2049F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2049	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACCTTTTTAGAGCACTTGGC	0.353000													26	33					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271183	140271183	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:140271183C>T	ENST00000370526.2	-	1	127	c.24G>A	c.(22-24)ctG>ctA	p.L8L	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	8					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GCGCGTGCAGCAGCAGCACCA	0.667000													9	1					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077547	57077547	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:57077547C>T	ENST00000532437.1	-	5	2949	c.2638G>A	c.(2638-2640)Gat>Aat	p.D880N	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D880N|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	880	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCTTACATCTCGACTACTG	0.532000													71	114					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123924243	123924243	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:123924243G>A	ENST00000373855.1	+	33	5459	c.5199G>A	c.(5197-5199)gtG>gtA	p.V1733V	CNTRL_ENST00000238341.5_Silent_p.V1733V|CNTRL_ENST00000373850.1_Silent_p.V1181V|CNTRL_ENST00000373845.2_3'UTR			Q7Z7A1	CNTRL_HUMAN	centriolin	1733					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGTGGCAGTGCTAGAGGTAA	0.393000													19	32					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100381983	100381983	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:100381983G>T	ENST00000294724.4	+	32	4755	c.4277G>T	c.(4276-4278)gGa>gTa	p.G1426V	AGL_ENST00000361522.4_Missense_Mutation_p.G1409V|AGL_ENST00000361915.3_Missense_Mutation_p.G1426V|AGL_ENST00000370165.3_Missense_Mutation_p.G1426V|AGL_ENST00000370163.3_Missense_Mutation_p.G1426V|AGL_ENST00000370161.2_Missense_Mutation_p.G1410V|AGL_ENST00000361302.3_Missense_Mutation_p.G1410V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1426					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTTTACTGTGGAATTTATGAC	0.279000													13	32					6.72482e-11	6.89492e-11	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183866887	183866887	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:183866887G>A	ENST00000361354.4	-	5	852	c.480C>T	c.(478-480)taC>taT	p.Y160Y	NCKAP1_ENST00000360982.2_Silent_p.Y166Y	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGGCATAGTTGTATAATCCAA	0.313000													26	55					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175339	35175339	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:35175339A>C	ENST00000505242.1	+	5	891	c.397A>C	c.(397-399)Act>Cct	p.T133P	ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.T133P|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000446502.2_Missense_Mutation_p.T177P|ZNF302_ENST00000423823.2_Missense_Mutation_p.T133P			Q9NR11	ZN302_HUMAN	zinc finger protein 302	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCAAAGTCTACTCTTTCTGA	0.284000													16	22					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170784513	170784513	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:170784513A>G	ENST00000436636.2	-	31	4055	c.3711T>C	c.(3709-3711)aaT>aaC	p.N1237N	TNIK_ENST00000341852.6_Silent_p.N1153N|TNIK_ENST00000460047.1_Silent_p.N1174N|TNIK_ENST00000488470.1_Silent_p.N1182N|TNIK_ENST00000538048.1_Silent_p.N1189N|TNIK_ENST00000357327.5_Silent_p.N1208N|TNIK_ENST00000470834.1_Silent_p.N1200N|TNIK_ENST00000369326.5_Silent_p.N1215N|TNIK_ENST00000284483.8_Silent_p.N1229N|TNIK_ENST00000475336.1_Silent_p.N1145N	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1237	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGGAGTGATATTGCCCTGAA	0.373000													13	12					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64645807	64645807	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:64645807C>T	ENST00000320631.3	-	1	384	c.130G>A	c.(130-132)Gag>Aag	p.E44K	EHD1_ENST00000359393.2_Missense_Mutation_p.E44K	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	44					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GAGTGGAACTCGTGGAAGCGG	0.637000													29	35					0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21897326	21897326	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrY:21897326G>A	ENST00000541639.1	-	8	1132	c.845C>T	c.(844-846)tCa>tTa	p.S282L	KDM5D_ENST00000382806.2_Missense_Mutation_p.S225L|KDM5D_ENST00000317961.4_Missense_Mutation_p.S282L	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	282					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	CAATGTTGATGACACGTTCCC	0.478000													3	3					0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576109	4576109	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:4576109C>T	ENST00000262352.3	+	9	1220	c.984C>T	c.(982-984)ctC>ctT	p.L328L		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	328					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TGACAGCTCTCATGATCTCTT	0.473000													20	10					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166805937	166805937	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:166805937G>A	ENST00000243344.7	-	3	366	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	AC010127.5_ENST00000440322.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	77						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GCATATATCAGTGCAAGTAGA	0.299000													42	55					0	0	1	0	0
EID1	23741	broad.mit.edu	37	15	49170530	49170530	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:49170530G>A	ENST00000530028.2	+	1	448	c.157G>A	c.(157-159)Gag>Aag	p.E53K	EID1_ENST00000560490.1_Intron|SHC4_ENST00000332408.4_Intron|EID1_ENST00000558295.1_Intron	NM_014335.2	NP_055150.1	Q9Y6B2	EID1_HUMAN	EP300 interacting inhibitor of differentiation 1	53					cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity			liver(1)|prostate(1)	2		all_lung(180;0.00455)		all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07)		CCAACAGCTCGAGGAGGAAGG	0.687000													11	9					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952883	16952883	+	RNA	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:16952883G>C	ENST00000412962.1	-	0	733																											AACTTGTCCTGAGCAAGGCTC	0.637000													6	68					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647569	130647569	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:130647569C>G	ENST00000229030.4	+	1	566	c.82C>G	c.(82-84)Cgc>Ggc	p.R28G	FZD10_ENST00000539839.1_5'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	28					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGACATGGAGCGCCCGGGCGA	0.652000													4	7					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18562692	18562692	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:18562692G>A	ENST00000329627.7	+	3	489	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	PEX26_ENST00000399744.3_Missense_Mutation_p.E95K|PEX26_ENST00000428061.2_Missense_Mutation_p.E95K	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26						protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGCCCTGGCAGAAATGGATCG	0.512000													17	254					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228400	4228400	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:4228400C>A	ENST00000296358.4	-	1	216	c.192G>T	c.(190-192)caG>caT	p.Q64H		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	64					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAGCCCATACTGGCTGCTCA	0.721000													5	3					0.00116845	0.00117466	1	1	0
DNAJC21	134218	broad.mit.edu	37	5	34929961	34929961	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:34929961G>A	ENST00000382021.2	+	1	264	c.37G>A	c.(37-39)Gac>Aac	p.D13N	DNAJC21_ENST00000303525.7_Missense_Mutation_p.D13N|DNAJC21_ENST00000342382.4_Missense_Mutation_p.D13N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	13	J.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GGTGCGGCGCGACGCCAGCGA	0.741000													6	9					0	0	1	0	0
BTBD9	114781	broad.mit.edu	37	6	38548141	38548141	+	Nonsense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:38548141A>C	ENST00000481247.1	-	5	1038	c.887T>G	c.(886-888)tTa>tGa	p.L296*	BTBD9_ENST00000419706.2_Nonsense_Mutation_p.L237*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.L228*|BTBD9_ENST00000403056.1_Nonsense_Mutation_p.L296*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.L228*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	296					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ATCACCATCTAATAAGGCTGA	0.403000													57	130					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58903285	58903285	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:58903285C>T	ENST00000260408.3	-	13	2160	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.E272K|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	573	Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCATATTTCTCACAGATAGAA	0.343000													18	66					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100915402	100915402	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:100915402C>T	ENST00000393437.3	-	7	2011	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E215K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	458					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTGACAGGTTCAAAGAGCAAT	0.453000													16	22					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89579942	89579942	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:89579942G>A	ENST00000370466.3	-	7	1174	c.906C>T	c.(904-906)atC>atT	p.I302I	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	302					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCCACTGCTGATGGCATTGA	0.493000													28	6					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908029	48908029	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:48908029C>T	ENST00000263269.3	+	3	592	c.504C>T	c.(502-504)acC>acT	p.T168T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	168						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTCTTCCACCGAGCAACAGC	0.597000													57	85					0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127294072	127294072	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:127294072G>A	ENST00000296210.7	-	8	960	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	TPRA1_ENST00000465915.1_5'UTR|TPRA1_ENST00000355552.3_Silent_p.F270F|TPRA1_ENST00000489960.1_Silent_p.F270F|TPRA1_ENST00000450633.2_Silent_p.F270F	NM_001142646.1	NP_001136118.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	0					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCGGAGCGAAGAAGCTGAAGT	0.657000											OREG0015772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	13					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	20731719	20731719	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:20731719C>G	ENST00000382148.3	-	8	1000	c.664G>C	c.(664-666)Gaa>Caa	p.E222Q	KCNIP4_ENST00000382152.2_Missense_Mutation_p.E247Q|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E213Q|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E185Q|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000359001.5_Missense_Mutation_p.E185Q|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Missense_Mutation_p.E226Q	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	247	EF-hand 4.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATCACATTTTCAAAGAGCTGC	0.378000													53	50					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9541999	9541999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:9541999C>T	ENST00000352665.5	+	12	1615	c.1546C>T	c.(1546-1548)Cag>Tag	p.Q516*	WDR16_ENST00000396219.3_Nonsense_Mutation_p.Q448*|WDR16_ENST00000299764.5_Nonsense_Mutation_p.Q526*|WDR16_ENST00000576714.1_3'UTR	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	516						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGGAGTTCCAGATCATCAC	0.498000													12	24					0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40262802	40262802	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40262802G>A	ENST00000251642.3	-	5	722	c.500C>T	c.(499-501)aCa>aTa	p.T167I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	167	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGGAGGCTGTGAGACCCAG	0.627000													38	43					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2272483	2272483	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:2272483G>A	ENST00000290974.2	-	13	2972	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.T183M|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.T808M|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.T848M	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	878					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTAGAAGGGCGTGACATGGAA	0.677000													5	1					0	0	1	0	0
ELOVL1	64834	broad.mit.edu	37	1	43829789	43829789	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:43829789G>A	ENST00000372458.3	-	8	755	c.638C>T	c.(637-639)tCa>tTa	p.S213L	ELOVL1_ENST00000413844.2_Missense_Mutation_p.S186L|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	213					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGTGCAGTGAGACCAGGAC	0.473000													20	19					0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34149669	34149669	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:34149669G>A	ENST00000588240.1	+	6	431	c.316G>A	c.(316-318)Gac>Aac	p.D106N	AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.D103N|TAF15_ENST00000592237.1_Missense_Mutation_p.D15N|AC015849.19_ENST00000588415.1_RNA	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	106	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACCTTCCTATGACCAGCCAGA	0.418000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								17	16					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40267024	40267024	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40267024C>A	ENST00000225916.5	-	13	1958	c.1905G>T	c.(1903-1905)aaG>aaT	p.K635N		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	635	N-acetyltransferase.				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			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						GGTAGCGGCTCTTGGGCACCT	0.567000													28	179					3.73988e-18	3.93034e-18	1	1	0
PLEKHA4	57664	broad.mit.edu	37	19	49362156	49362156	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:49362156G>A	ENST00000263265.6	-	8	1488	c.933C>T	c.(931-933)ccC>ccT	p.P311P	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Silent_p.P311P	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	311	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGACTCCTGGGGGGCTTTC	0.652000													6	99					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157184481	157184481	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:157184481G>A	ENST00000339562.4	-	5	1402	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	NR4A2_ENST00000429376.1_Missense_Mutation_p.S284L|NR4A2_ENST00000409108.2_Missense_Mutation_p.S347L|NR4A2_ENST00000539077.1_Missense_Mutation_p.S358L|NR4A2_ENST00000409572.1_Missense_Mutation_p.S347L|NR4A2_ENST00000426264.1_Missense_Mutation_p.S284L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	347	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTTCGGTTTCGAGGGCAAACG	0.622000													3	7					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19648393	19648393	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:19648393G>A	ENST00000457500.2	-	1	379	c.50C>T	c.(49-51)tCg>tTg	p.S17L	ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.S17L|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.S17L|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.S17L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	17					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGTCCTGCCCGAGCTGAAGGC	0.716000													18	17					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33381290	33381290	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:33381290G>A	ENST00000374516.3	+	6	814	c.543G>A	c.(541-543)ctG>ctA	p.L181L	PHF1_ENST00000374512.3_Silent_p.L181L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	181					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGACATCTGAGCAACCGAC	0.567000													15	16					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112860756	112860756	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:112860756G>A	ENST00000161863.4	+	3	570	c.357G>A	c.(355-357)ttG>ttA	p.L119L	YTHDC2_ENST00000515883.1_Silent_p.L119L	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	119							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCTGTAATTTGACTCATAATA	0.348000													15	28					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51825991	51825991	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:51825991G>A	ENST00000322475.8	+	3	623	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	FAM124A_ENST00000280057.6_Missense_Mutation_p.R199Q	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	163										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TGGGCCATCCGGCCCGTGCAC	0.632000													7	4					0	0	1	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93389801	93389801	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:93389801C>T	ENST00000238994.5	-	2	921	c.837G>A	c.(835-837)caG>caA	p.Q279Q		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	279							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TAGGAGACGTCTGGTGGAATG	0.512000													25	33					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121174923	121174923	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:121174923C>T	ENST00000242592.4	+	3	496	c.345C>T	c.(343-345)atC>atT	p.I115I	ACADS_ENST00000411593.2_Silent_p.I115I	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	115						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCGGAGTCATCATGAGTGTCA	0.682000													5	4					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621989	74621989	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:74621989G>A	ENST00000156626.7	-	8	1716	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	506					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CAGGGTCTTAGACCTCAGAAA	0.582000													17	41					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502086	26502086	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:26502086C>T	ENST00000244513.6	+	2	414	c.348C>T	c.(346-348)gtC>gtT	p.V116V		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	116	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity	p.V116V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCGTCAGAGTCTCTGACGACG	0.622000													26	29					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50769147	50769147	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:50769147C>T	ENST00000433963.1	+	10	1451	c.951C>T	c.(949-951)gtC>gtT	p.V317V	USP8_ENST00000396444.3_Silent_p.V317V|USP8_ENST00000425032.3_Silent_p.V240V|USP8_ENST00000307179.4_Silent_p.V317V			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	317					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATGCTAAGGTCACTCCACCCC	0.398000													21	53					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159820958	159820958	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:159820958C>T	ENST00000408953.3	-	2	2047	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	C5orf54_ENST00000523213.1_Missense_Mutation_p.E514K	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	514										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						cagaaatcctcaagcttcatt	0.378000													35	61					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94817720	94817720	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:94817720C>T	ENST00000262554.2	-	8	752	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	249						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTCCAGTATTCATATACAATC	0.363000													26	21					0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22647048	22647048	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:22647048G>A	ENST00000327470.3	-	1	339	c.309C>T	c.(307-309)ctC>ctT	p.L103L	AC103801.2_ENST00000428556.2_5'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	103					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CTGCATCCCCGAGGGCCCGGT	0.667000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057813	9057813	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:9057813C>A	ENST00000397910.4	-	3	29836	c.29633G>T	c.(29632-29634)gGa>gTa	p.G9878V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9880	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						CTCCCTGAATCCAGGAGTCAA	0.488000													39	39					2.51541e-25	2.65581e-25	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22204681	22204681	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:22204681T>C	ENST00000374695.3	-	21	2762	c.2683A>G	c.(2683-2685)Aag>Gag	p.K895E		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	895	Laminin EGF-like 4; truncated.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACGCGTACCTTACAGCGGCAG	0.642000													7	6					0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652437	115652437	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:115652437G>A	ENST00000374228.4	-	1	756	c.525C>T	c.(523-525)ctC>ctT	p.L175L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	175						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCAGGTCAATGAGGATGAGGC	0.652000													3	6					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49936679	49936679	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:49936679G>A	ENST00000296474.3	-	2	1275	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	MST1R_ENST00000344206.4_Silent_p.L416L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	416	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTTGGGGCTGAGGGCTTCCA	0.612000													17	39					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864031	52864031	+	RNA	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:52864031C>T	ENST00000451298.1	-	0	138																											AATGATACTCCAAAGGAATAT	0.313000													3	10					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144392342	144392342	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:144392342C>G	ENST00000523676.1	-	14	1710	c.1305G>C	c.(1303-1305)caG>caC	p.Q435H	TOP1MT_ENST00000329245.4_Missense_Mutation_p.Q533H|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q435H|TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q435H			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	533					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCTGCGCCAGCTGCTCCTGCA	0.642000													4	21					0	0	1	0	0
ID1	3397	broad.mit.edu	37	20	30193213	30193213	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:30193213C>T	ENST00000376105.3	+	1	122	c.23C>T	c.(22-24)aCc>aTc	p.T8I	ID1_ENST00000376112.3_Missense_Mutation_p.T8I	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	8					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGTGGCAGCACCGCCACCGCC	0.627000													18	4					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67799573	67799573	+	Silent	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:67799573T>A	ENST00000544246.1	-	2	3691	c.3000A>T	c.(2998-3000)ggA>ggT	p.G1000G	PCDH9_ENST00000377861.3_Silent_p.G1000G|PCDH9_ENST00000377865.2_Silent_p.G1000G|PCDH9_ENST00000328454.5_Silent_p.G1000G|PCDH9_ENST00000456367.1_Silent_p.G1000G	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1000					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)		TCTTGAAGCCTCCTTGGGAAC	0.478000													22	80					0	0	1	0	0
SNX22	79856	broad.mit.edu	37	15	64445857	64445857	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:64445857G>A	ENST00000325881.4	+	5	425	c.366G>A	c.(364-366)ctG>ctA	p.L122L		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	122					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						TCAGCACCCTGAGGGAGTTCC	0.637000											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	26					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76018464	76018464	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:76018464T>C	ENST00000237172.7	-	6	3915	c.3585A>G	c.(3583-3585)atA>atG	p.I1195M	FILIP1_ENST00000393004.2_Intron|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.I1096M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1195										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCAGCTCTATTTTCATAG	0.537000													37	54					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102049817	102049817	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:102049817C>T	ENST00000318222.3	-	14	2587	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	PKD2L1_ENST00000338519.3_Silent_p.L660L|PKD2L1_ENST00000353274.3_Silent_p.L735L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	735					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCAGCATTTTCAGCTTTGAGC	0.562000													29	45					0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18979511	18979511	+	RNA	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:18979511C>T	ENST00000438934.1	+	0	2862				DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000537283.1_RNA																							AATGTGATGCCGGGAGTTCTG	0.577000													11	59					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110880554	110880554	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:110880554G>C	ENST00000265171.5	+	6	1472	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	EGF_ENST00000509793.1_Intron|EGF_ENST00000503392.1_Missense_Mutation_p.E343Q	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	343	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CATGTGTGCAGAGGGATACGC	0.488000													24	35					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132741645	132741645	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:132741645G>A	ENST00000420781.1	-	3	367	c.149C>T	c.(148-150)tCa>tTa	p.S50L	FNBP1_ENST00000355681.3_Missense_Mutation_p.S50L|FNBP1_ENST00000446176.2_Missense_Mutation_p.S50L			Q96RU3	FNBP1_HUMAN	formin binding protein 1	50	FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTACTTCTTTGAAAGATTCCT	0.313000			T	MLL	AML								15	20					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27831685	27831685	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:27831685C>T	ENST00000396319.2	+	9	1187	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	TAX1BP1_ENST00000433216.2_Missense_Mutation_p.R210W|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.R367W|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.R367W|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.R367W	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	367	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	p.R367W(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TCAGGCAACTCGGCAAGAAGT	0.423000													10	51					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19440464	19440464	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:19440464A>G	ENST00000538714.1	+	12	1823	c.1819A>G	c.(1819-1821)Agt>Ggt	p.S607G	PLEKHA5_ENST00000309364.4_Missense_Mutation_p.S607G|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.S613G|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.S365G|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.S607G|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.S499G|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.S499G|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.S607G|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.S607G|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.S607G	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	607							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACAGTCTGTTAGTCCCCAGAG	0.403000													42	87					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521218	39521218	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:39521218C>T	ENST00000251646.3	-	6	959	c.910G>A	c.(910-912)Gag>Aag	p.E304K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	304	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TAGCGGGCCTCGCTCTCTGTC	0.582000													26	20					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35212583	35212583	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:35212583G>A	ENST00000156471.5	-	14	1396	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	391						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCATTTTTAGGAAGAGTTGGC	0.343000													3	10					0	0	1	0	0
FAM118B	79607	broad.mit.edu	37	11	126126539	126126539	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:126126539C>A	ENST00000533050.1	+	7	1267	c.774C>A	c.(772-774)ttC>ttA	p.F258L	FAM118B_ENST00000529731.1_Missense_Mutation_p.F182L|FAM118B_ENST00000360194.4_Missense_Mutation_p.F258L	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	258										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		ACACCACTTTCCAGGCCCTTT	0.433000													32	48					3.11337e-16	3.25685e-16	1	1	0
FTO	79068	broad.mit.edu	37	16	53913760	53913760	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:53913760C>G	ENST00000471389.1	+	6	1202	c.980C>G	c.(979-981)tCa>tGa	p.S327*	FTO_ENST00000394647.3_Nonsense_Mutation_p.S31*	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	327	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CAACAGTGCTCAACAGGAACC	0.413000													13	100					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13240196	13240196	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:13240196A>T	ENST00000337630.6	-	5	595	c.528T>A	c.(526-528)ggT>ggA	p.G176G	GSG1_ENST00000396302.3_Splice_Site_p.S218T|GSG1_ENST00000324458.8_Splice_Site_p.G212G|GSG1_ENST00000432710.2_Splice_Site_p.G189G|GSG1_ENST00000537302.1_Splice_Site_p.G148G|GSG1_ENST00000351606.6_Splice_Site_p.S254T|GSG1_ENST00000396310.2_Splice_Site_p.G145G|GSG1_ENST00000457134.2_Splice_Site_p.G125G	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	199						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCCCCAGGAGACCTACCAAGG	0.512000													54	62					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25823447	25823447	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:25823447C>T	ENST00000381801.5	-	14	2550	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	MTMR6_ENST00000540661.1_Intron	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	597						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCTGCATATTCACTATAACGA	0.423000													37	39					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40715086	40715086	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40715086C>T	ENST00000393818.2	+	1	902	c.446C>T	c.(445-447)tCg>tTg	p.S149L	COASY_ENST00000590958.1_Missense_Mutation_p.S178L|COASY_ENST00000420359.1_Missense_Mutation_p.S149L|COASY_ENST00000421097.2_Missense_Mutation_p.S149L|COASY_ENST00000449624.1_5'UTR	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	149					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	p.S149L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CGACTGGCCTCGGTGCTGCTA	0.597000													60	79					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26810991	26810991	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:26810991A>G	ENST00000381340.3	-	17	2375	c.1959T>C	c.(1957-1959)tgT>tgC	p.C653C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	653					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ACATAAATTTACAGATGAGTT	0.353000													23	28					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11397263	11397263	+	Silent	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:11397263C>A	ENST00000304623.8	-	6	681	c.492G>T	c.(490-492)ggG>ggT	p.G164G	CTNND2_ENST00000359640.2_Silent_p.G164G|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000511377.1_Silent_p.G73G|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	164					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGGAAAGACCCTTCAGGTT	0.572000													26	35					2.27525e-19	2.39556e-19	1	1	0
SETX	23064	broad.mit.edu	37	9	135203009	135203009	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:135203009T>G	ENST00000372169.2	-	10	4158	c.3976A>C	c.(3976-3978)Act>Cct	p.T1326P	SETX_ENST00000393220.1_Missense_Mutation_p.T1326P|SETX_ENST00000224140.5_Missense_Mutation_p.T1326P			Q7Z333	SETX_HUMAN	senataxin	1326					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATTAATTTAGTCTTTTTTCGG	0.398000													33	35					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17327008	17327008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:17327008C>T	ENST00000595101.1	+	4	280	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	USE1_ENST00000379776.4_Nonsense_Mutation_p.Q88*|USE1_ENST00000263897.5_Nonsense_Mutation_p.Q88*|USE1_ENST00000445667.2_Nonsense_Mutation_p.Q88*|USE1_ENST00000596136.1_Nonsense_Mutation_p.Q88*			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	88					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						ACTGGCCAACCAGTTCCTGGC	0.617000													16	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087168	9087168	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:9087168T>G	ENST00000397910.4	-	1	4850	c.4647A>C	c.(4645-4647)gaA>gaC	p.E1549D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1549	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						GTGTTGAGTGTTCAATCACAC	0.498000													25	130					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48539808	48539808	+	Silent	SNP	G	G	A	rs138994578	byFrequency	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:48539808G>A	ENST00000427954.2	+	7	772	c.729G>A	c.(727-729)tcG>tcA	p.S243S	ACSF2_ENST00000504392.1_Silent_p.S175S|ACSF2_ENST00000541920.1_Silent_p.S58S|ACSF2_ENST00000300441.4_Silent_p.S218S|ACSF2_ENST00000502667.1_Silent_p.S205S			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	218					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGTCATCTCGGTGGATGCCC	0.622000													32	28					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61439008	61439008	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:61439008C>T	ENST00000398571.2	-	69	8815	c.8739G>A	c.(8737-8739)atG>atA	p.M2913I	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2913					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTTCTTCTCTCATATCTGGCC	0.368000													25	26					0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175916018	175916018	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:175916018G>A	ENST00000261942.6	+	4	387	c.334G>A	c.(334-336)Gat>Aat	p.D112N	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	112					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CACGATACTTGATATATTTAG	0.343000													36	51					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37619091	37619091	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:37619091C>A	ENST00000447079.4	+	1	800	c.767C>A	c.(766-768)tCg>tAg	p.S256*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.S256*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	256					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						TCTCATACCTCGAGCAATTAT	0.527000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			52	85					1.46156e-29	1.54601e-29	1	1	0
HSD17B2	3294	broad.mit.edu	37	16	82104594	82104594	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:82104594G>A	ENST00000199936.4	+	3	719	c.526G>A	c.(526-528)Gat>Aat	p.D176N	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	176					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CTTTCCAACTGATGGGGAGCT	0.453000													25	45					0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179322679	179322679	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:179322679C>T	ENST00000493866.1	+	1	101	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	NDUFB5_ENST00000472629.1_Missense_Mutation_p.R26C|NDUFB5_ENST00000259037.3_Missense_Mutation_p.R26C	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	26					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	CCTTGGCACTCGCCTCGGATT	0.642000													6	12					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46758898	46758898	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:46758898C>T	ENST00000256689.5	-	8	1082	c.638G>A	c.(637-639)aGa>aAa	p.R213K	SLC38A2_ENST00000551374.1_Missense_Mutation_p.R51K|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	213					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACCTAAATTTCTAAACAGCGA	0.373000													29	38					0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90937348	90937348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:90937348C>A	ENST00000451899.2	+	6	1498	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	OSGIN2_ENST00000297438.2_Nonsense_Mutation_p.S369*	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	369					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCTGTAGACTCAAATCTTTTA	0.373000													38	185					1.47197e-15	1.53415e-15	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2057293	2057293	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:2057293A>T	ENST00000262113.4	+	25	3292	c.3151A>T	c.(3151-3153)Att>Ttt	p.I1051F	MYOM2_ENST00000523438.1_Missense_Mutation_p.I476F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1051					muscle contraction	myosin filament	structural constituent of muscle	p.I1051L(1)		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)		CCGATTTATTATTAACGACAG	0.468000													22	10					0	0	1	0	0
CORO7	79585	broad.mit.edu	37	16	4411172	4411172	+	Missense_Mutation	SNP	C	C	A	rs35536632		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:4411172C>A	ENST00000251166.4	-	18	1910	c.1765G>T	c.(1765-1767)Gtg>Ttg	p.V589L	CORO7_ENST00000574025.1_Missense_Mutation_p.V504L|CORO7_ENST00000537233.2_Missense_Mutation_p.V571L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.V589L|CORO7_ENST00000539968.1_Missense_Mutation_p.V369L|CORO7_ENST00000423908.2_3'UTR	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCTGTGAGCACAGTCTCTGGC	0.652000													10	9					1.08611e-07	1.10361e-07	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764980	138764980	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:138764980G>A	ENST00000242351.5	-	4	1023	c.707C>T	c.(706-708)tCa>tTa	p.S236L	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S236L|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S236L	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	236	Binding to EXOSC5 (By similarity).				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TCTACGATGTGAAGAAGGAGC	0.433000													4	141					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121461754	121461754	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:121461754C>T	ENST00000260197.7	+	31	4387	c.4258C>T	c.(4258-4260)Ctg>Ttg	p.L1420L	SORL1_ENST00000532694.1_Silent_p.L266L|SORL1_ENST00000534286.1_Silent_p.L330L|SORL1_ENST00000525532.1_Silent_p.L364L|SORL1_ENST00000527934.1_Silent_p.L35L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1420	LDL-receptor class A 9.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCCACGTGTCTGCCCAATTA	0.532000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	79					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353210	105353210	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:105353210A>G	ENST00000453495.1	+	12	2865	c.2637A>G	c.(2635-2637)ccA>ccG	p.P879P	CEP170B_ENST00000414716.3_Silent_p.P878P|CEP170B_ENST00000418279.1_Silent_p.P808P|CEP170B_ENST00000556508.1_Silent_p.P808P					centrosomal protein 170B																		GTGGTCCCCCAGCGCCCGGCA	0.682000													20	6					0	0	1	0	0
HOGA1	112817	broad.mit.edu	37	10	99358536	99358536	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:99358536C>T	ENST00000370646.4	+	2	577	c.216C>T	c.(214-216)ttC>ttT	p.F72F	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TTGCAGGCTTCGTGGTCCAGG	0.552000													27	44					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132548972	132548972	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:132548972C>T	ENST00000370828.3	-	1	546	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	8					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGAGAAGCGCGGGCAAGCCG	0.687000													15	4					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73230743	73230743	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:73230743G>A	ENST00000447371.2	+	16	1547	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	NUP85_ENST00000579298.1_Missense_Mutation_p.E498K|NUP85_ENST00000541827.1_Missense_Mutation_p.E497K|NUP85_ENST00000540768.1_Missense_Mutation_p.E146K|NUP85_ENST00000579324.1_Missense_Mutation_p.E431K|NUP85_ENST00000245544.4_Missense_Mutation_p.E543K			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	543					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AAAGTATCGCGAGTTCCACCG	0.522000													77	90					0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82337861	82337861	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:82337861C>T	ENST00000558133.1	-	1	599	c.186G>A	c.(184-186)aaG>aaA	p.K62K	MEX3B_ENST00000329713.4_Silent_p.K62K			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	62					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						TGTTCACGCTCTTCTTGCGCG	0.642000													4	7					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277021	114277021	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:114277021G>A	ENST00000357077.4	+	38	7300	c.7247G>A	c.(7246-7248)cGa>cAa	p.R2416Q	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R2383Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2383					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCCCTAGCCGAGATAGCGAA	0.507000													13	39					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44320579	44320579	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:44320579C>T	ENST00000288390.2	+	2	603	c.256C>T	c.(256-258)Cct>Tct	p.P86S	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Missense_Mutation_p.P86S			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	86										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGTGAGCCTCCTGGCCTCCC	0.502000													8	98					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661033	44661033	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:44661033C>G	ENST00000426739.2	+	6	1122	c.864C>G	c.(862-864)ttC>ttG	p.F288L	ZNF234_ENST00000592437.1_Missense_Mutation_p.F288L	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGAAACCATTCAAATGTGATA	0.428000													49	56					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832874	24832874	+	Missense_Mutation	SNP	G	G	A	rs137864034		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:24832874G>A	ENST00000376451.2	+	14	3984	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1559K|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1559					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATGCAAGGGTGAGGACGCGAC	0.507000													20	39					0	0	1	0	0
ORAOV1	220064	broad.mit.edu	37	11	69489972	69489972	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:69489972C>T	ENST00000279147.4	-	1	143	c.36G>A	c.(34-36)gtG>gtA	p.V12V	ORAOV1_ENST00000536870.1_Silent_p.V12V|ORAOV1_ENST00000535657.1_Silent_p.V12V|ORAOV1_ENST00000539414.1_Silent_p.V12V|ORAOV1_ENST00000542341.1_Silent_p.V12V	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	12										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CATCCGCCATCACGATGGCAT	0.716000													9	9					0	0	1	0	0
DNAJB13	374407	broad.mit.edu	37	11	73677287	73677287	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:73677287A>C	ENST00000339764.1	+	5	1348	c.597A>C	c.(595-597)gaA>gaC	p.E199D	DNAJB13_ENST00000537753.1_5'UTR|RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_5'UTR	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	199					apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding			large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					TTGAGAAGGAAGGGGACCAGG	0.552000													8	7					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502044	26502044	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:26502044C>T	ENST00000244513.6	+	2	372	c.306C>T	c.(304-306)atC>atT	p.I102I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	102	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGGACGGCATCGCCAAGGGGC	0.662000													17	20					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990696	63990696	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:63990696C>T	ENST00000370657.4	-	4	793	c.760G>A	c.(760-762)Gtc>Atc	p.V254I	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	254					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AAACTCTCGACATTGGCTCCA	0.413000													16	29					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110499044	110499044	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:110499044T>G	ENST00000378402.5	+	59	9978	c.9874T>G	c.(9874-9876)Ttt>Gtt	p.F3292V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3292					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGATGACATTTAAAGGTTG	0.343000										HNSCC(38;0.096)			20	164					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52436887	52436887	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:52436887C>A	ENST00000460680.1	-	15	2362	c.1891G>T	c.(1891-1893)Gag>Tag	p.E631*	BAP1_ENST00000296288.5_Splice_Site_p.E613*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	631	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E631_A634del(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCCAGCAGCTCCTGCCAAAAC	0.567000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							26	19					2.41591e-17	2.53191e-17	1	1	0
WDR25	79446	broad.mit.edu	37	14	100992220	100992220	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:100992220A>G	ENST00000335290.6	+	5	1341	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C	WDR25_ENST00000542471.2_Missense_Mutation_p.Y115C|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Missense_Mutation_p.Y372C|WDR25_ENST00000554998.1_Missense_Mutation_p.Y372C	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	372										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				ATGAGAAGCTACAAGGCGACC	0.642000													8	6					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109870156	109870156	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:109870156G>C	ENST00000256637.6	-	12	1497	c.1439C>G	c.(1438-1440)tCa>tGa	p.S480*	SORT1_ENST00000538502.1_Nonsense_Mutation_p.S343*	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	480					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATTCGGCTCTGAGAGTGGGGC	0.488000													24	31					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35299535	35299535	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:35299535G>A	ENST00000254457.5	+	4	2125	c.714G>A	c.(712-714)atG>atA	p.M238I	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	238					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGCGGAGGATGAAGCAGCTGA	0.736000													3	2					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110837615	110837615	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:110837615C>T	ENST00000485303.1	+	3	890	c.615C>T	c.(613-615)gaC>gaT	p.D205D	PVRL3_ENST00000319792.3_Silent_p.D205D|PVRL3_ENST00000493615.1_Silent_p.D182D	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	205	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CACATATTGACTGGGAAGGTG	0.428000													28	35					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230398368	230398368	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:230398368T>G	ENST00000366672.4	+	12	1258	c.1186T>G	c.(1186-1188)Tat>Gat	p.Y396D	GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Missense_Mutation_p.Y358D	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	396					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CAAAAATTTCTATTATGCAGC	0.448000													71	160					0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676557	33676557	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:33676557G>A	ENST00000532280.1	-	0	940					NR_023917.1																						TAGCAATAATGTTTAGATAAA	0.368000													34	33					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349980	38349980	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:38349980C>T	ENST00000436615.3	+	15	1801	c.1311C>T	c.(1309-1311)gtC>gtT	p.V437V	RAPGEFL1_ENST00000264644.6_Silent_p.V437V|RAPGEFL1_ENST00000456989.2_Silent_p.V492V|RAPGEFL1_ENST00000544503.1_Silent_p.V486V	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	643	Ras-GEF.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGTTTCAGGTCATCGACAACC	0.577000													19	36					0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55252419	55252419	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:55252419G>A	ENST00000337526.6	-	3	3059	c.2816C>T	c.(2815-2817)tCt>tTt	p.S939F	RTN4_ENST00000354474.6_Missense_Mutation_p.S707F|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.S733F|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.S733F|RTN4_ENST00000405240.1_Missense_Mutation_p.S733F|RTN4_ENST00000357376.3_Missense_Mutation_p.S733F	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	939					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCCATTTTTAGAAAAGTCATC	0.423000													43	49					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97990573	97990573	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:97990573C>G	ENST00000224337.5	-	4	322	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	BLNK_ENST00000413476.2_Missense_Mutation_p.E61Q|BLNK_ENST00000427367.2_Missense_Mutation_p.E61Q|BLNK_ENST00000371176.2_Missense_Mutation_p.E61Q	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	61					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CACTGCTCCTCTTCGTCAGCA	0.547000													8	9					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462550	114462550	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:114462550C>T	ENST00000513154.1	-	10	2127	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K	TRIM36_ENST00000282369.3_Missense_Mutation_p.E613K|TRIM36_ENST00000514154.1_Missense_Mutation_p.E458K			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	613	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTGTCTTGCTCATATCTGAAA	0.328000													23	34					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113737706	113737706	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:113737706G>A	ENST00000552014.1	-	17	2146	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	SLC8B1_ENST00000202831.3_Missense_Mutation_p.S544L|SLC8B1_ENST00000546737.1_Missense_Mutation_p.S488L|SLC8B1_ENST00000550047.1_Missense_Mutation_p.S59L|SLC8B1_ENST00000549069.1_Missense_Mutation_p.S103L					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	544																	CAATGGGACTGAGACCAGGGA	0.592000													14	30					0	0	1	0	0
NDUFB8	4714	broad.mit.edu	37	10	102286789	102286789	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:102286789C>T	ENST00000531258.1	-	3	284	c.255G>A	c.(253-255)gaG>gaA	p.E85E	NDUFB8_ENST00000299166.4_Silent_p.E85E|NDUFB8_ENST00000370322.1_Silent_p.E54E|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000370320.4_Silent_p.E85E|NDUFB8_ENST00000557395.1_Silent_p.E85E			O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	85					mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	ATGGATCTCTCTCATGCTGTG	0.522000													28	34					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799986	39799986	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:39799986G>C	ENST00000564288.1	+	37	8503	c.7726G>C	c.(7726-7728)Gag>Cag	p.E2576Q	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E2581Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E1016Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E2613Q|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2581					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAATCCAGGAGGTTCAGGC	0.383000													16	65					0	0	1	0	0
SVILP1	645954	broad.mit.edu	37	10	30987369	30987369	+	RNA	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:30987369C>T	ENST00000435645.1	+	0	502																											TTTACTGTCTCATGGATGACA	0.463000													30	26					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560710	44560710	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:44560710C>T	ENST00000289547.4	-	13	3016	c.2961G>A	c.(2959-2961)ctG>ctA	p.L987L	NPC1L1_ENST00000546276.1_Silent_p.L941L|NPC1L1_ENST00000381160.3_Silent_p.L987L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	987					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TTAGGCAGTTCAGAGAGTCTG	0.577000													68	13					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	35103843	35103843	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:35103843G>A	ENST00000374789.3	-	1	406	c.81C>T	c.(79-81)atC>atT	p.I27I	PARD3_ENST00000545693.1_Silent_p.I27I|PARD3_ENST00000374788.3_Silent_p.I27I|PARD3_ENST00000340077.5_Silent_p.I27I|PARD3_ENST00000545260.1_Silent_p.I27I|PARD3_ENST00000350537.4_Silent_p.I27I|PARD3_ENST00000374773.1_Silent_p.I27I|PARD3_ENST00000374790.3_Silent_p.I27I|PARD3_ENST00000346874.4_Silent_p.I27I|PARD3_ENST00000374776.1_Silent_p.I27I|PARD3_ENST00000374794.3_Silent_p.I27I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	27					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCGCCTGCTGGATGAGGCTGA	0.731000													8	5					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46851384	46851384	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:46851384C>T	ENST00000283296.7	-	6	812	c.524G>A	c.(523-525)aGa>aAa	p.R175K	GPR116_ENST00000456426.2_Missense_Mutation_p.R175K|GPR116_ENST00000265417.7_Missense_Mutation_p.R175K|GPR116_ENST00000362015.4_Missense_Mutation_p.R175K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	175	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TAGTCTGACTCTCATGTTCAG	0.393000													13	21					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31526191	31526191	+	Silent	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:31526191C>G	ENST00000511367.2	-	4	1093	c.849G>C	c.(847-849)cgG>cgC	p.R283R	DROSHA_ENST00000344624.3_Silent_p.R283R|DROSHA_ENST00000442743.1_Silent_p.R283R|DROSHA_ENST00000513349.1_Silent_p.R283R	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	283	Arg-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTTACCTGCTCCGTTCGTAGC	0.537000													44	40					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157758	145157758	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:145157758C>T	ENST00000558170.2	-	8	2180	c.996G>A	c.(994-996)aaG>aaA	p.K332K	ZEB2_ENST00000539609.3_Silent_p.K308K|ZEB2_ENST00000409487.3_Silent_p.K332K|ZEB2_ENST00000303660.4_Silent_p.K332K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	332						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CAATACATTTCTTGCTGCTGA	0.383000													28	39					0	0	1	0	0
ACTRT3	84517	broad.mit.edu	37	3	169487235	169487235	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:169487235C>T	ENST00000330368.2	-	1	448	c.74G>A	c.(73-75)cGg>cAg	p.R25Q		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	25						cytoplasm|cytoskeleton											CTGGGGCTCCCGGCACCCAGC	0.677000													16	15					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79426096	79426096	+	Silent	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:79426096C>A	ENST00000307745.7	+	25	5622	c.5622C>A	c.(5620-5622)atC>atA	p.I1874I																								CGTGTGCCATCCACAAGGAGG	0.697000													3	3					0.004672	0.00468852	1	1	0
TTF2	8458	broad.mit.edu	37	1	117603117	117603117	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:117603117G>A	ENST00000369466.4	+	2	113	c.69G>A	c.(67-69)ccG>ccA	p.P23P		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCGATGGCCCGAATAAAGGAA	0.592000													19	28					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620720	56620720	+	Silent	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:56620720A>C	ENST00000321691.3	-	1	1009	c.828T>G	c.(826-828)tcT>tcG	p.S276S	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	276										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTTAAGGACAGAGAGTTTGA	0.453000													15	96					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128193261	128193261	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:128193261C>T	ENST00000284694.7	-	3	628	c.508G>A	c.(508-510)Gag>Aag	p.E170K	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.E123K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E267K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E170K|C10orf90_ENST00000392694.1_Missense_Mutation_p.E123K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	170										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGTGTGTCCTCAGCCCTGCAC	0.647000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	60					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196599625	196599625	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:196599625G>A	ENST00000409086.3	+	10	2631	c.2356G>A	c.(2356-2358)Ggt>Agt	p.G786S	SLC39A10_ENST00000359634.5_Missense_Mutation_p.G786S|SLC39A10_ENST00000541054.1_Missense_Mutation_p.G336S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	786					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AATGTTGCATGGTGATGGTGA	0.348000													34	56					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49138030	49138030	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:49138030G>A	ENST00000306125.6	-	11	1291	c.954C>T	c.(952-954)atC>atT	p.I318I	QARS_ENST00000414533.1_Silent_p.I307I|QARS_ENST00000470225.1_5'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	318					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CCATGTCACAGATGGCCGTGA	0.532000													18	18					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67576462	67576462	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:67576462C>T	ENST00000540839.3	+	14	2053	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000379312.3_Silent_p.I595I|FAM65A_ENST00000042381.4_Silent_p.I591I|FAM65A_ENST00000428437.2_Silent_p.I605I|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Silent_p.I611I			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	595	Pro-rich.					cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCTCAATATCATAGGCCCAG	0.552000													94	130					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68026435	68026435	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:68026435C>T	ENST00000412757.2	-	4	1033	c.368G>A	c.(367-369)aGa>aAa	p.R123K	DPEP2_ENST00000572888.1_Missense_Mutation_p.R123K|DPEP2_ENST00000393847.1_Missense_Mutation_p.R123K			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	123					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GAGGCCATCTCTAAGCCTGTC	0.592000													25	41					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32149591	32149591	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:32149591A>G	ENST00000373672.3	-	33	2813	c.2297T>C	c.(2296-2298)cTa>cCa	p.L766P	COL16A1_ENST00000271069.6_Missense_Mutation_p.L765P|COL16A1_ENST00000373668.3_Missense_Mutation_p.L766P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	766	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AACTCCTGGTAGACCGGGTTG	0.637000													13	19					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72897468	72897468	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:72897468G>A	ENST00000325599.8	-	1	163	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	8	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GATCCTGGCTGAGGTCGAACG	0.662000													18	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477943	179477943	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:179477943A>G	ENST00000589042.1	-	264	49817	c.49593T>C	c.(49591-49593)gcT>gcC	p.A16531A	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.A13963A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.A7591A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.A7466A|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A7658A|TTN_ENST00000591111.1_Silent_p.A14890A|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14890	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGGTCCAGCAAGATTTT	0.338000													11	21					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123966220	123966220	+	Missense_Mutation	SNP	G	G	A	rs150570834	byFrequency	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:123966220G>A	ENST00000314393.4	+	3	3305	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	824						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GGAACTGGCTGAATCAGACTC	0.582000													24	17					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211449675	211449675	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:211449675C>T	ENST00000367005.4	+	4	398	c.257C>T	c.(256-258)cCg>cTg	p.P86L	RCOR3_ENST00000367006.4_Missense_Mutation_p.P144L|RCOR3_ENST00000452621.2_Missense_Mutation_p.P144L|RCOR3_ENST00000419091.2_Missense_Mutation_p.P144L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	86	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ACTCCCTTTCCGGATGAGTGG	0.398000													99	89					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123498520	123498520	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:123498520C>G	ENST00000280562.5	-	3	353	c.148G>C	c.(148-150)Gat>Cat	p.D50H	PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D50H|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D50H|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D50H|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	50					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCTGGGCCATCTGTGTACGGC	0.592000													28	29					0	0	1	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408784	17408784	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:17408784G>A	ENST00000339994.4	-	1	1422	c.855C>T	c.(853-855)gtC>gtT	p.V285V	KCNJ11_ENST00000528731.1_Silent_p.V198V	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	198						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CTTCCAGGATGACGATGATCT	0.617000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	35					0	0	1	0	0
MRPL32	64983	broad.mit.edu	37	7	42977134	42977134	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:42977134G>A	ENST00000223324.2	+	3	713	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	176					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						GAGGATCATTGAACGAGACAG	0.473000													30	6					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74734510	74734510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:74734510C>T	ENST00000588460.1	+	1	2118	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	MFSD11_ENST00000336509.4_Nonsense_Mutation_p.Q26*|MFSD11_ENST00000355954.3_Nonsense_Mutation_p.Q26*|MFSD11_ENST00000586622.1_Nonsense_Mutation_p.Q26*|RP11-318A15.7_ENST00000587459.1_3'UTR|MFSD11_ENST00000591864.1_Nonsense_Mutation_p.Q26*|MFSD11_ENST00000590514.1_Nonsense_Mutation_p.Q26*|MFSD11_ENST00000590393.1_Nonsense_Mutation_p.Q26*|MFSD11_ENST00000593181.1_Nonsense_Mutation_p.Q26*	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	26						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CACTGCCTTTCAAACTTGTGG	0.418000													15	38					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22040818	22040818	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:22040818C>T	ENST00000335025.8	+	11	852	c.761C>T	c.(760-762)gCg>gTg	p.A254V	PPIL2_ENST00000406385.1_Missense_Mutation_p.A254V|PPIL2_ENST00000492445.2_Missense_Mutation_p.A254V|PPIL2_ENST00000456792.2_Missense_Mutation_p.A233V|PPIL2_ENST00000398831.3_Missense_Mutation_p.A254V|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000412327.1_Missense_Mutation_p.A254V			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACCTCCACCGCGATGGTCCCG	0.622000													102	25					0	0	1	0	0
PAFAH1B3	5050	broad.mit.edu	37	19	42801243	42801243	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:42801243T>C	ENST00000538771.1	-	6	1039	c.683A>G	c.(682-684)gAg>gGg	p.E228G	PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.E228G	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	228					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				GGGTGCGGGCTCCAGCAGGGG	0.592000													5	69					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78865558	78865558	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:78865558T>A	ENST00000306801.3	+	18	2384	c.2022T>A	c.(2020-2022)taT>taA	p.Y674*	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Nonsense_Mutation_p.Y516*	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	674					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGGTTCAGTATGAAAGCAATT	0.517000													83	102					0	0	1	0	0
IGLV1-47	28822	broad.mit.edu	37	22	22712478	22712478	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:22712478G>A	ENST00000390294.2	+	0	277																											AATAATCAGCGGCCCTCAGGG	0.547000													413	91					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273340	205273340	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:205273340C>T	ENST00000367157.3	-	7	1251	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	375					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCGGGACTTCTTGAGCGAAT	0.607000													44	34					0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874293	31874293	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr21:31874293C>A	ENST00000334151.2	-	1	142	c.116G>T	c.(115-117)gGt>gTt	p.G39V		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	39						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						TCCGTAGCCACCGCCATAGCC	0.567000													47	17					7.70917e-36	8.16985e-36	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79033157	79033157	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:79033157G>A	ENST00000446378.2	+	2	8600	c.8569G>A	c.(8569-8571)Gac>Aac	p.D2857N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2857						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCTAAAGATGACACATCCGA	0.418000													38	47					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132257097	132257097	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:132257097G>A	ENST00000260818.6	+	56	6951	c.6703G>A	c.(6703-6705)Gag>Aag	p.E2235K		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2235							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGTAGACCATGAGGCAGGCGA	0.493000													22	23					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136062721	136062721	+	Silent	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:136062721A>T	ENST00000383202.2	-	30	3655	c.3399T>A	c.(3397-3399)atT>atA	p.I1133I	STAG1_ENST00000434713.2_Silent_p.I873I|STAG1_ENST00000236698.5_Silent_p.I1133I|STAG1_ENST00000536929.1_Silent_p.I717I	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1133					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAGGTTCTTGAATCTGGTCTC	0.453000													30	28					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803609	142803609	+	RNA	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:142803609G>T	ENST00000423385.1	-	0	1356																											AGAAAATATAGATGGAAGAaa	0.299000													8	59					3.09899e-07	3.1433e-07	1	1	0
ANKRD40	91369	broad.mit.edu	37	17	48776851	48776851	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:48776851C>T	ENST00000285243.6	-	3	956	c.687G>A	c.(685-687)atG>atA	p.M229I		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	229	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GCTCCAGAGACATTGGTGGCT	0.507000													52	61					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059798	49059798	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:49059798C>T	ENST00000326925.6	+	2	1231	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	NDUFAF3_ENST00000395458.2_5'UTR|NDUFAF3_ENST00000326912.4_5'UTR|NDUFAF3_ENST00000451378.2_5'UTR	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	33					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCGAGGGCATCGGCTCTCGCC	0.716000													19	14					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18070954	18070954	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:18070954G>A	ENST00000205890.5	+	62	10337	c.9999G>A	c.(9997-9999)cgG>cgA	p.R3333R	MYO15A_ENST00000418233.3_Silent_p.R597R|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3333	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGCCAGCCGGCCCAGCGAGC	0.667000													19	21					0	0	1	0	0
RNF34	80196	broad.mit.edu	37	12	121855412	121855412	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:121855412C>G	ENST00000361234.5	+	3	503	c.331C>G	c.(331-333)Cag>Gag	p.Q111E	RNF34_ENST00000392465.3_Missense_Mutation_p.Q112E|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Missense_Mutation_p.Q111E	NM_025126.3	NP_079402.2	Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	111					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		GACAGCATTTCAGCGCCCTCA	0.423000													44	67					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804558	113804558	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:113804558C>A	ENST00000281273.4	+	10	1312	c.1055C>A	c.(1054-1056)tCc>tAc	p.S352Y	QTRTD1_ENST00000479882.1_Missense_Mutation_p.S229Y|QTRTD1_ENST00000485050.1_Missense_Mutation_p.S364Y|QTRTD1_ENST00000493014.1_Missense_Mutation_p.S246Y	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	352					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						AGAGGATGTTCCTGTTACTGC	0.478000													52	67					1.72845e-40	1.83516e-40	1	1	0
SOX2	6657	broad.mit.edu	37	3	181430266	181430266	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:181430266C>T	ENST00000325404.1	+	1	545	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	SOX2_ENST00000431565.2_Missense_Mutation_p.R40C	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	40					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CAGCCCGGACCGCGTCAAGCG	0.687000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						4	18					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092393	147092393	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:147092393A>G	ENST00000234739.3	+	8	3172	c.2432A>G	c.(2431-2433)aAc>aGc	p.N811S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	811	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAGAGGACTAACAGCCGGCTC	0.602000			T	"""IGH@, IGL@"""	B-ALL								16	15					0	0	1	0	0
TMEM123	114908	broad.mit.edu	37	11	102272882	102272882	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:102272882C>T	ENST00000398136.2	-	3	633	c.213G>A	c.(211-213)gtG>gtA	p.V71V	TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000361236.3_Silent_p.V52V|TMEM123_ENST00000525577.1_5'UTR	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	71	Thr-rich.		V -> M (in dbSNP:rs2155587).		oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TTGGTGGTTTCACAGTACTGT	0.423000													27	48					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78987876	78987876	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:78987876C>G	ENST00000436010.2	-	2	1254	c.257G>C	c.(256-258)gGa>gCa	p.G86A	ROBO1_ENST00000495273.1_Missense_Mutation_p.G86A|ROBO1_ENST00000464233.1_Missense_Mutation_p.G125A|ROBO1_ENST00000467549.1_Missense_Mutation_p.G86A			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	125	Ig-like C2-type 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAATAAAGATCCACTCGGCAG	0.488000													14	10					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100542468	100542468	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:100542468G>A	ENST00000372907.3	-	2	333	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	TAF7L_ENST00000324762.6_Silent_p.L22L|TAF7L_ENST00000372905.2_Silent_p.L22L|TAF7L_ENST00000356784.1_Silent_p.L22L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	108					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTTCTTACCAGAGGCAGACGC	0.333000													41	8					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46651614	46651614	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:46651614C>T	ENST00000303383.3	-	3	585	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	107										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGGACCTTCTCCAAGAACTCA	0.448000													35	61					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130799825	130799825	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:130799825C>T	ENST00000509018.1	-	18	2594	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E847K|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E512K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E797K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E802K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E797K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E797K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E797K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	797	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACAGAAACTTCACAGAGAGAA	0.388000													24	48					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55470564	55470564	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:55470564C>A	ENST00000394600.3	-	13	2288	c.1552G>T	c.(1552-1554)Gtg>Ttg	p.V518L	MTIF2_ENST00000263629.4_Missense_Mutation_p.V518L|MTIF2_ENST00000403721.1_Missense_Mutation_p.V518L	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	518					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTAATAATCACAGAAAGTACA	0.284000													28	52					8.58068e-18	9.00932e-18	1	1	0
LRRC36	55282	broad.mit.edu	37	16	67380303	67380303	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:67380303G>A	ENST00000329956.6	+	3	362	c.343G>A	c.(343-345)Gat>Aat	p.D115N	LRRC36_ENST00000563303.1_3'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	115	LRRCT.									endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GAAAGATACAGATTATAGGCT	0.388000													29	33					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58119821	58119821	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:58119821T>C	ENST00000373944.3	-	3	252	c.214A>G	c.(214-216)Act>Gct	p.T72A	ZWINT_ENST00000361148.6_Missense_Mutation_p.T72A|ZWINT_ENST00000395405.1_Missense_Mutation_p.T72A			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	72					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CCCTTAGCAGTGTCCTCCTGA	0.562000													23	32					0	0	1	0	0
CTSH	1512	broad.mit.edu	37	15	79224765	79224765	+	Silent	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:79224765A>T	ENST00000220166.5	-	6	550	c.441T>A	c.(439-441)acT>acA	p.T147T	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	147					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						CCAGGGCCCCAGTGGTGGAGA	0.622000													19	16					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50474726	50474726	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:50474726G>A	ENST00000267842.5	+	1	334	c.102G>A	c.(100-102)ttG>ttA	p.L34L	SLC27A2_ENST00000380902.4_Silent_p.L34L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	34					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GCTACTTCTTGAAGGTGGCCG	0.657000													3	7					0	0	1	0	0
FTH1	2495	broad.mit.edu	37	11	61732348	61732348	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:61732348C>T	ENST00000273550.7	-	4	637	c.403G>A	c.(403-405)Gag>Aag	p.E135K	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.E105K|FTH1_ENST00000532601.1_Missense_Mutation_p.E65K|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	135	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	TAATGTGTCTCAATGAAGTCA	0.488000													42	36					0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50236650	50236650	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:50236650C>T	ENST00000333924.4	-	1	262	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	74	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGAGTTACACCCCACGTCGAG	0.642000													18	37					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99342779	99342779	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:99342779C>T	ENST00000264968.3	-	1	380	c.17G>A	c.(16-18)gGa>gAa	p.G6E	MGAT4A_ENST00000495056.2_Missense_Mutation_p.G6E|MGAT4A_ENST00000393487.1_Missense_Mutation_p.G6E|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G6E			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GGCTACAGTTCCATTGCGGAG	0.398000													12	31					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10668318	10668318	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:10668318C>T	ENST00000312962.6	-	16	1564	c.1545G>A	c.(1543-1545)cgG>cgA	p.R515R	KRI1_ENST00000361821.5_Silent_p.R511R	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	515										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGTAGTCCAGCCGGTAATACT	0.627000													26	69					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27324214	27324214	+	Silent	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:27324214T>A	ENST00000376087.4	-	24	3330	c.3165A>T	c.(3163-3165)ctA>ctT	p.L1055L	ANKRD26_ENST00000436985.2_Silent_p.L1071L|ANKRD26_ENST00000376070.3_Silent_p.L612L	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1054						centrosome		p.L1055L(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGTTATCTTTTAGGTTAGACA	0.353000													33	60					0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66603884	66603884	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:66603884A>T	ENST00000379500.2	+	2	545	c.478A>T	c.(478-480)Aat>Tat	p.N160Y	CMTM1_ENST00000328020.6_Missense_Mutation_p.N160Y|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000528324.1_Missense_Mutation_p.N43Y|CMTM1_ENST00000457188.2_Missense_Mutation_p.N43Y|CMTM1_ENST00000531885.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000535705.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	43					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CACCCAAGCCAATGAGTCATT	0.323000													45	65					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44105533	44105533	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:44105533C>T	ENST00000267812.3	-	5	872	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	214						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTCACGTTCTTGAACTGTC	0.512000													69	49					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89414740	89414740	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:89414740C>T	ENST00000439576.2	+	14	7448	c.7074C>T	c.(7072-7074)atC>atT	p.I2358I	ACAN_ENST00000352105.7_Silent_p.I2320I|ACAN_ENST00000559004.1_Silent_p.I2320I|ACAN_ENST00000561243.1_Silent_p.I2358I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2358					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGCAGCATCGTCACCCCCG	0.637000													19	8					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61544787	61544787	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:61544787G>A	ENST00000278836.5	+	12	1738	c.1642G>A	c.(1642-1644)Gca>Aca	p.A548T	MYRF_ENST00000265460.5_Missense_Mutation_p.A539T|MYRF_ENST00000327797.1_Missense_Mutation_p.A173T|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GTGGCAGCGGGCACAGGTGCC	0.652000													15	24					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58855162	58855162	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:58855162C>T	ENST00000472469.1	-	8	1130	c.292G>A	c.(292-294)Gag>Aag	p.E98K	C3orf67_ENST00000295966.7_Missense_Mutation_p.E178K|C3orf67_ENST00000482387.1_Missense_Mutation_p.E178K|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	178										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACACACTTCTCTACAGTGGAC	0.383000													32	31					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61462992	61462992	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:61462992C>G	ENST00000398571.2	-	57	7096	c.7020G>C	c.(7018-7020)caG>caC	p.Q2340H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2340					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CACAAGCTGCCTGACTATTAT	0.383000													14	27					0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642680	129642680	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:129642680G>A	ENST00000319119.4	+	2	1087	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	ZBTB34_ENST00000373452.2_Silent_p.L330L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CTGTCCACCTGCACAGTGACC	0.597000													4	16					0	0	1	0	0
MREG	55686	broad.mit.edu	37	2	216811815	216811815	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:216811815C>T	ENST00000263268.6	-	3	572	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	93						apical plasma membrane				large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GTATGGATATCATAGTTGAGC	0.388000													9	4					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154862	12154862	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:12154862C>T	ENST00000602107.1	-	5	1494	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.E452K|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCTTACACTCATAGGGTTTC	0.393000													11	39					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3110298	3110298	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:3110298G>A	ENST00000078429.4	+	2	530	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	96					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCATGGAGACGCTCAAGATCC	0.642000			Mis		uveal melanoma								16	21					0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67047378	67047378	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:67047378C>A	ENST00000315962.4	+	3	868	c.495C>A	c.(493-495)ttC>ttA	p.F165L	TRIM55_ENST00000350034.4_Missense_Mutation_p.F165L|TRIM55_ENST00000276573.7_Missense_Mutation_p.F165L|TRIM55_ENST00000353317.5_Missense_Mutation_p.F165L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	165						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CTCATGTGTTCCAGAGACAGA	0.587000													24	71					5.61819e-17	5.88251e-17	1	1	0
FOXR2	139628	broad.mit.edu	37	X	55650327	55650327	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:55650327G>A	ENST00000339140.3	+	1	495	c.183G>A	c.(181-183)caG>caA	p.Q61Q		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	61					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAATGCCTCAGAAGAGGAGAC	0.527000													20	7					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651837	6651837	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:6651837G>A	ENST00000299441.3	-	10	4599	c.4188C>T	c.(4186-4188)ttC>ttT	p.F1396F	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1396	Cadherin 13.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCAGCTTCGAAGTCCAGGG	0.721000													4	2					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110257578	110257578	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:110257578C>G	ENST00000239690.4	-	9	1806	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	NUDCD1_ENST00000427660.2_Missense_Mutation_p.E449Q	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	478										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GCGATGTGCTCCCACATATCA	0.393000													21	80					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911263	88911263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:88911263C>T	ENST00000263321.5	+	1	644	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	48					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TCCCTGTGGCCAGCTTTCAGG	0.577000													27	24					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157118	145157118	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:145157118C>G	ENST00000558170.2	-	8	2820	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	ZEB2_ENST00000539609.3_Missense_Mutation_p.D522H|ZEB2_ENST00000409487.3_Missense_Mutation_p.D546H|ZEB2_ENST00000303660.4_Missense_Mutation_p.D546H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	546						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCCTTGAGTCAGTAGTCAAG	0.383000													40	63					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76372111	76372111	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:76372111C>T	ENST00000407242.2	-	3	768	c.526G>A	c.(526-528)Gag>Aag	p.E176K	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.E176K|LRRC32_ENST00000404995.1_Missense_Mutation_p.E176K	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	176						integral to plasma membrane		p.E176*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCAAGCTGCTCCAGCGCAGGC	0.637000													18	36					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64974053	64974053	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:64974053G>A	ENST00000399262.2	-	8	2092	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	JMJD1C_ENST00000542921.1_Missense_Mutation_p.S443F|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S406F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S406F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	625					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATTAAGTTTAGATTTTATAGT	0.363000													20	44					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719851	50719851	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:50719851G>A	ENST00000449103.1	-	22	3740	c.3600C>T	c.(3598-3600)ctC>ctT	p.L1200L	PLXNB2_ENST00000359337.4_Silent_p.L1200L			O15031	PLXB2_HUMAN	plexin B2	1200					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGGCAAGATGAGGCTGAGCG	0.672000													3	7					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170523735	170523735	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:170523735C>T	ENST00000439128.2	-	2	687	c.47G>A	c.(46-48)gGa>gAa	p.G16E	NEK1_ENST00000512193.1_Missense_Mutation_p.G16E|NEK1_ENST00000510533.1_Missense_Mutation_p.G16E|NEK1_ENST00000511633.1_Missense_Mutation_p.G16E|NEK1_ENST00000507142.1_Missense_Mutation_p.G16E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	16	Protein kinase.				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AATGGCTTTTCCAAATGAACC	0.318000													35	56					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50330127	50330127	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:50330127G>A	ENST00000336089.4	-	2	177	c.178C>T	c.(178-180)Cca>Tca	p.P60S	IFRD2_ENST00000436390.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCCCTCAGTGGAGCACCAAGG	0.647000													10	40					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170113633	170113633	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:170113633C>T	ENST00000263816.3	-	18	2925		c.e18+1		LRP2_ENST00000443831.1_Splice_Site	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCTACTTACGCCCAATCGA	0.458000													16	32					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358494	102358494	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:102358494C>T	ENST00000332238.4	+	1	129	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTTGTTCTACTTTGCGAGCA	0.423000													29	87					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703208	4703208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:4703208C>T	ENST00000396950.3	-	2	973	c.734G>A	c.(733-735)gGt>gAt	p.G245D		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGTACCACACCAATGTGTGA	0.498000													19	15					0	0	1	0	0
MSL3	10943	broad.mit.edu	37	X	11781934	11781934	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:11781934G>A	ENST00000337339.2	+	8	812	c.785G>A	c.(784-786)aGa>aAa	p.R262K	MSL3_ENST00000380693.3_Missense_Mutation_p.R96K|MSL3_ENST00000361672.2_Missense_Mutation_p.R113K|MSL3_ENST00000312196.4_Missense_Mutation_p.R262K|MSL3_ENST00000398527.2_Missense_Mutation_p.R250K	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	262					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GATGGATTAAGAATAACCTTT	0.358000													63	9					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28459805	28459805	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:28459805G>A	ENST00000261609.7	-	40	6462	c.6354C>T	c.(6352-6354)ctC>ctT	p.L2118L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2118					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCCACCTCTGAGTAATGGCA	0.587000													15	17					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94543561	94543561	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:94543561G>A	ENST00000258526.4	+	1	1063	c.814G>A	c.(814-816)Gag>Aag	p.E272K		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	272	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCAGAGCACCGAGGTGCTGTT	0.687000													8	3					0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56598447	56598447	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:56598447C>T	ENST00000457347.2	-	11	1378	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	SEPT4_ENST00000583114.1_Missense_Mutation_p.D250N|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.D389N|SEPT4_ENST00000317256.6_Missense_Mutation_p.D378N|SEPT4_ENST00000317268.3_Missense_Mutation_p.D397N|SEPT4_ENST00000579371.1_Missense_Mutation_p.D298N|SEPT4_ENST00000580844.1_Missense_Mutation_p.D298N|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000393086.1_Missense_Mutation_p.D378N	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	397					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTGTCACATCCTTCAGGTCC	0.547000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	73					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016230	141016230	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:141016230G>A	ENST00000277549.5	+	47	6950	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	CACNA1B_ENST00000371357.1_Missense_Mutation_p.E2266K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E2268K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E2267K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E2265K|CACNA1B_ENST00000277551.2_Silent_p.V2204V			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2267					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTGGACAGTGAGGCCTCTGT	0.647000													9	23					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28723674	28723674	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:28723674A>C	ENST00000257197.3	-	8	1281	c.1020T>G	c.(1018-1020)atT>atG	p.I340M	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.I340M	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	340	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GTGAAATAGTAATTGTTCCTG	0.338000													17	22					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147637507	147637507	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:147637507C>T	ENST00000367481.3	+	16	1874	c.1766C>T	c.(1765-1767)tCa>tTa	p.S589L	STXBP5_ENST00000367480.3_Missense_Mutation_p.S589L|STXBP5_ENST00000321680.6_Missense_Mutation_p.S589L|STXBP5_ENST00000179882.6_Missense_Mutation_p.S260L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	589	Poly-Ser.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGTAGCAGTTCATCTGATGGG	0.438000													12	6					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173921231	173921231	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:173921231C>T	ENST00000367696.2	-	14	2767	c.2416G>A	c.(2416-2418)Gat>Aat	p.D806N	RC3H1_ENST00000258349.4_Missense_Mutation_p.D806N|RC3H1_ENST00000367694.2_Missense_Mutation_p.D806N			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	806					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGGCTATAATCATTTCCTTTG	0.388000													14	28					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183730974	183730974	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:183730974C>T	ENST00000295113.4	-	1	916	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	103	FZ.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTGATGGGCTCGTGCTGGAAG	0.622000													16	32					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	454015	454015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:454015C>T	ENST00000512944.1	+	4	1084	c.895C>T	c.(895-897)Cag>Tag	p.Q299*	EXOC3_ENST00000315013.5_Nonsense_Mutation_p.Q299*	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	310					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCTGATGGTTCAGTGCTTTCC	0.507000													10	29					0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23667441	23667441	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:23667441T>C	ENST00000374612.1	-	2	184	c.61A>G	c.(61-63)Act>Gct	p.T21A	HNRNPR_ENST00000427764.2_Missense_Mutation_p.T21A|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000478691.1_Intron|HNRNPR_ENST00000302271.6_Missense_Mutation_p.T21A|HNRNPR_ENST00000374616.3_Missense_Mutation_p.T21A	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	21	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ACACTGGAAGTATCCATTGGT	0.403000													47	59					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6648423	6648423	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:6648423C>T	ENST00000299441.3	-	14	6258	c.5847G>A	c.(5845-5847)acG>acA	p.T1949T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1949	Cadherin 18.		T -> M (in dbSNP:rs4758443).		calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCGCGCACCGTGATGGTGA	0.612000													5	61					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38991175	38991175	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:38991175C>T	ENST00000357387.3	-	7	489	c.459G>A	c.(457-459)atG>atA	p.M153I	RICTOR_ENST00000296782.5_Missense_Mutation_p.M153I	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	153					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCACAGTAATCATCTGTAACA	0.348000													22	54					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169498883	169498883	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:169498883G>A	ENST00000367796.3	-	16	5598	c.5397C>T	c.(5395-5397)ctC>ctT	p.L1799L	F5_ENST00000367797.3_Silent_p.L1794L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1794	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGAGGATGTGAGTCTCCAAG	0.378000											OREG0004791	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	29	33					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65546315	65546315	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:65546315C>T	ENST00000532090.2	-	2	1859	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	493							protein binding			lung(1)	1						CTGGGCATCTCCATCTGCCAC	0.642000													15	14					0	0	1	0	0
TPRG1L	127262	broad.mit.edu	37	1	3542277	3542277	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:3542277G>A	ENST00000378344.2	+	3	365	c.294G>A	c.(292-294)gaG>gaA	p.E98E	TPRG1L_ENST00000344579.5_Intron	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	98						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CTGCCTACAGGGTGGATCACT	0.627000													3	16					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104438289	104438289	+	Silent	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:104438289T>G	ENST00000297579.5	+	4	1117	c.840T>G	c.(838-840)ggT>ggG	p.G280G	DCAF13_ENST00000519682.1_Silent_p.G124G|DCAF13_ENST00000521971.1_Silent_p.G88G|DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	128					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCTAGGTTGGTGATGACAAAA	0.333000													9	49					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15780142	15780142	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:15780142C>T	ENST00000226279.3	+	1	242	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule						B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCCTGATCCTCGTCGTGGTGC	0.662000													105	75					0	0	1	0	0
RLN3	117579	broad.mit.edu	37	19	14139187	14139187	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:14139187C>G	ENST00000431365.2	+	1	228	c.171C>G	c.(169-171)atC>atG	p.I57M	RLN3_ENST00000585987.1_Missense_Mutation_p.I57M	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	57						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GATCAGACATCCTGGCCCACG	0.617000													16	37					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66420902	66420902	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:66420902C>T	ENST00000341529.3	+	3	549	c.401C>T	c.(400-402)cCt>cTt	p.P134L	CDH5_ENST00000563425.2_Missense_Mutation_p.P134L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	134	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CTGGAGACTCCTTCCAGCTTC	0.542000													14	20					0	0	1	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57473207	57473207	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:57473207C>A	ENST00000394391.4	-	3	438	c.197G>T	c.(196-198)gGt>gTt	p.G66V	CIAPIN1_ENST00000568940.1_Missense_Mutation_p.G66V|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.G66V|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.G66V|CIAPIN1_ENST00000567518.1_Splice_Site_p.C53F|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.G66V|CIAPIN1_ENST00000569246.1_5'UTR	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	66					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGGGACTAAACCTGACAAAAT	0.483000													26	137					0.000227799	0.00022962	1	1	0
UBB	7314	broad.mit.edu	37	17	16285353	16285353	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:16285353C>T	ENST00000302182.3	+	2	524	c.132C>T	c.(130-132)atC>atT	p.I44I	UBB_ENST00000395839.1_Silent_p.I44I|UBB_ENST00000395837.1_Silent_p.I44I|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Silent_p.I44I	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	44	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGAGGCTCATCTTTGCAGGCA	0.552000													61	43					0	0	1	0	0
TEPP	374739	broad.mit.edu	37	16	58010489	58010489	+	Nonsense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:58010489T>G	ENST00000290871.5	+	1	151	c.114T>G	c.(112-114)taT>taG	p.Y38*	TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000441824.2_Nonsense_Mutation_p.Y38*	NM_199046.2	NP_950247.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	38						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						AAAGTCCTTATAAGCCTGTGC	0.522000													20	30					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95376511	95376511	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:95376511C>T	ENST00000317968.4	+	2	208	c.72C>T	c.(70-72)ttC>ttT	p.F24F	PDLIM5_ENST00000504489.1_Silent_p.F24F|PDLIM5_ENST00000318007.5_Silent_p.F24F|PDLIM5_ENST00000380180.3_Silent_p.F24F|PDLIM5_ENST00000359265.4_Silent_p.F24F|PDLIM5_ENST00000508216.1_Silent_p.F24F|PDLIM5_ENST00000450793.1_Silent_p.F24F|PDLIM5_ENST00000437932.1_Silent_p.F24F|PDLIM5_ENST00000514743.1_Silent_p.F24F|PDLIM5_ENST00000512274.1_Silent_p.F24F|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000538141.1_Silent_p.F24F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	24	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GTAAGGATTTCAACATGCCTC	0.443000													5	13					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11964064	11964064	+	Silent	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:11964064G>T	ENST00000339865.5	+	19	3055	c.2292G>T	c.(2290-2292)gtG>gtT	p.V764V	USP47_ENST00000527733.1_Silent_p.V832V|USP47_ENST00000399455.2_Silent_p.V852V|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	852					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CTGGTAATGTGGATGATGACT	0.408000													26	32					3.08376e-08	3.14472e-08	1	1	0
SLC46A2	57864	broad.mit.edu	37	9	115652813	115652813	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:115652813G>A	ENST00000374228.4	-	1	380	c.149C>T	c.(148-150)aCc>aTc	p.T50I		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	50						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGAGCCTCCGGTTCCGTAGGA	0.622000													42	33					0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47382381	47382381	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:47382381G>T	ENST00000294947.2	-	1	45	c.10C>A	c.(10-12)Cca>Aca	p.P4T	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000445927.2_Missense_Mutation_p.P4T	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	4								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCGACGGCTGGCTGGTCCATG	0.652000													3	40					0.00909568	0.00911979	1	1	0
CYR61	3491	broad.mit.edu	37	1	86048116	86048116	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:86048116C>T	ENST00000451137.2	+	4	876	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	218					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AATGGAGCCTCGCATCCTATA	0.438000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	16					0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106861308	106861308	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:106861308C>T	ENST00000379987.2	+	6	798	c.582C>T	c.(580-582)atC>atT	p.I194I	NPNT_ENST00000453617.2_Silent_p.I211I|NPNT_ENST00000514622.1_Silent_p.I194I|NPNT_ENST00000305572.8_Silent_p.I194I|NPNT_ENST00000427316.2_Silent_p.I224I|NPNT_ENST00000506666.1_Silent_p.I224I	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	194	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GGAGCTACATCTGCAAGTGTC	0.398000													53	48					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233511790	233511790	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:233511790G>A	ENST00000366624.3	+	7	2065	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	MLK4_ENST00000366622.1_Missense_Mutation_p.D48N	NM_032435.2	NP_115811.2																					TCAAATGAAAGATAGAACAGA	0.373000													18	29					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91347632	91347632	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:91347632A>G	ENST00000358859.2	-	1	1321	c.888T>C	c.(886-888)gaT>gaC	p.D296D	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CCTCCTTTGCATCACACAcct	0.527000													53	58					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967264	21967264	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:21967264A>C	ENST00000298717.4	-	10	1687	c.1536T>G	c.(1534-1536)caT>caG	p.H512Q	TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	512					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CATCTGGTTTATGACTGGTGG	0.383000													22	10					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37153898	37153898	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:37153898C>T	ENST00000274258.7	-	41	8436	c.4849G>A	c.(4849-4851)Gaa>Aaa	p.E1617K	C5orf42_ENST00000425232.2_Missense_Mutation_p.E2719K|C5orf42_ENST00000508244.1_Missense_Mutation_p.E2719K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2719										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)			TCTATGTTTTCAGCAATGTTC	0.403000													39	27					0	0	1	0	0
TRIM31	11074	broad.mit.edu	37	6	30080562	30080562	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:30080562C>T	ENST00000376734.3	-	2	146	c.21G>A	c.(19-21)gtG>gtA	p.V7V	TRIM31_ENST00000540829.1_Silent_p.V7V|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	7						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GCAGTTTGTTCACAAACTGCC	0.517000													28	41					0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119217596	119217596	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:119217596C>T	ENST00000494664.1	+	1	218	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	TIMMDC1_ENST00000493694.1_Missense_Mutation_p.P6S	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	6						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						GGTGCCGCCACCGGCACCGCG	0.592000													17	66					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35927571	35927571	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:35927571G>T	ENST00000490799.1	-	15	2004	c.1651C>A	c.(1651-1653)Cct>Act	p.P551T	SLC26A8_ENST00000394602.2_Missense_Mutation_p.P446T|SLC26A8_ENST00000355574.2_Missense_Mutation_p.P551T	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	551	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCACCCCAGGAATGGTGATG	0.388000													32	40					2.08457e-15	2.17063e-15	1	1	0
INVS	27130	broad.mit.edu	37	9	103060229	103060229	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:103060229G>C	ENST00000262457.2	+	16	3213	c.3028G>C	c.(3028-3030)Gaa>Caa	p.E1010Q	INVS_ENST00000541287.1_Missense_Mutation_p.E914Q|INVS_ENST00000262456.2_Missense_Mutation_p.E840Q	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	1010					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTGTTCTCACGAAGGGAAAAT	0.448000													22	43					0	0	1	0	0
RPL18	6141	broad.mit.edu	37	19	49118689	49118689	+	Silent	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:49118689G>C	ENST00000549920.1	-	7	899	c.507C>G	c.(505-507)tcC>tcG	p.S169S	RPL18_ENST00000552588.1_Silent_p.S140S|RPL18_ENST00000550645.1_Silent_p.S114S|RPL18_ENST00000549273.1_3'UTR	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	169					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		TCCGGCCCTTGGAGCGGACGT	0.567000													30	80					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907324	16907324	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:16907324C>G	ENST00000430580.2	-	16	2394	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	503	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TTGTCTTCCTCAAAGGTGATG	0.473000													60	1749					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38723813	38723813	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:38723813G>C	ENST00000359357.3	+	8	1076	c.822G>C	c.(820-822)agG>agC	p.R274S	DNAH8_ENST00000441566.1_Missense_Mutation_p.R274S|DNAH8_ENST00000449981.2_Missense_Mutation_p.R491S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTGTGTCAAGGTATTATAATA	0.343000													43	37					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036388	32036388	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:32036388G>T	ENST00000375244.3	-	17	6200	c.5999C>A	c.(5998-6000)cCt>cAt	p.P2000H	TNXB_ENST00000375247.2_Missense_Mutation_p.P2000H			P22105	TENX_HUMAN	tenascin XB	2082	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGGAGTCAGGGGTGGCATC	0.637000													15	52					2.32078e-09	2.37305e-09	1	1	0
POLDIP2	26073	broad.mit.edu	37	17	26684316	26684316	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:26684316G>A	ENST00000540200.1	-	2	155	c.156C>T	c.(154-156)tcC>tcT	p.S52S	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	53						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCCCTCACCGGGACGAGAGGT	0.731000													9	12					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13522798	13522798	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:13522798G>A	ENST00000295757.3	+	2	238	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	HDAC11_ENST00000402259.1_Missense_Mutation_p.V19M|HDAC11_ENST00000402271.1_Missense_Mutation_p.V19M|HDAC11_ENST00000522202.1_5'UTR|HDAC11_ENST00000405025.1_5'UTR|HDAC11_ENST00000433119.1_5'UTR|HDAC11_ENST00000437379.2_5'UTR|HDAC11_ENST00000404040.1_Missense_Mutation_p.V19M|HDAC11_ENST00000404548.1_Missense_Mutation_p.V19M|HDAC11_ENST00000446613.2_5'UTR	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	19	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						CTGGCCAATCGTGTACTCGCC	0.542000													16	22					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172966987	172966987	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:172966987C>T	ENST00000234198.4	-	1	641	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	DLX2_ENST00000466293.2_Missense_Mutation_p.A94T	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AGGCCGCTGGCTTGGTACTGG	0.662000													8	12					0	0	1	0	0
IL17D	53342	broad.mit.edu	37	13	21296024	21296024	+	Silent	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:21296024C>A	ENST00000304920.3	+	3	648	c.540C>A	c.(538-540)atC>atA	p.I180I		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	180					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		CAGACAGCATCAACTCCAGCA	0.721000													22	24					8.10497e-08	8.25035e-08	1	1	0
GNB2L1	10399	broad.mit.edu	37	5	180666172	180666172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:180666172C>T	ENST00000512805.1	-	5	939	c.531G>A	c.(529-531)tgG>tgA	p.W177*	GNB2L1_ENST00000511566.1_Nonsense_Mutation_p.W177*|GNB2L1_ENST00000511900.1_Nonsense_Mutation_p.W129*|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Nonsense_Mutation_p.W133*	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	177					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		TAGCCAGGTTCCATACCTGCA	0.522000													32	30					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47301052	47301052	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:47301052G>A	ENST00000319190.5	+	20	2935	c.2567G>A	c.(2566-2568)aGa>aAa	p.R856K	TTC7A_ENST00000409245.1_Missense_Mutation_p.R822K|C2orf61_ENST00000464527.2_Intron|RP11-761B3.1_ENST00000422269.1_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.R880K|TTC7A_ENST00000263737.6_Missense_Mutation_p.R502K	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	856							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ATCATCCCCAGAGAGCTCTGA	0.667000													10	15					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651347	6651347	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:6651347G>T	ENST00000299441.3	-	10	5089	c.4678C>A	c.(4678-4680)Cct>Act	p.P1560T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1560	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGGGCCCAGGCGGCTGGTCC	0.706000													10	9					6.42651e-13	6.64307e-13	1	1	0
ANO1	55107	broad.mit.edu	37	11	70013389	70013389	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:70013389A>G	ENST00000355303.5	+	21	2398	c.2093A>G	c.(2092-2094)cAg>cGg	p.Q698R	ANO1_ENST00000398543.2_Missense_Mutation_p.Q552R|ANO1_ENST00000538023.1_Missense_Mutation_p.Q698R|ANO1_ENST00000530676.1_Missense_Mutation_p.Q552R|ANO1_ENST00000531349.1_Missense_Mutation_p.Q407R	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	698					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CTGAAGCAGCAGAGCCCCCCT	0.552000													11	19					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40812300	40812300	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40812300G>A	ENST00000251412.7	+	3	495	c.296G>A	c.(295-297)gGa>gAa	p.G99E		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	99					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CATGGAGGAGGAGCTGGCAAC	0.562000													26	23					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26539864	26539864	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:26539864C>T	ENST00000333478.6	-	3	823	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	GPR113_ENST00000311519.1_Missense_Mutation_p.E140K|GPR113_ENST00000541401.1_Intron|GPR113_ENST00000421160.2_Missense_Mutation_p.E71K|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	140					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAGAGTTCAGGGGGCCAG	0.577000													23	14					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86669240	86669240	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:86669240G>A	ENST00000409556.1	+	3	435	c.70G>A	c.(70-72)Gac>Aac	p.D24N	KDM3A_ENST00000312912.5_Missense_Mutation_p.D24N|KDM3A_ENST00000409064.1_Missense_Mutation_p.D24N|KDM3A_ENST00000542128.1_Missense_Mutation_p.D24N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	24				D -> G (in Ref. 2; CAH18459/CAH18373).	androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTCCGCAGCCGACGGCAGCGA	0.642000													30	41					0	0	1	0	0
MTFR1L	56181	broad.mit.edu	37	1	26153136	26153136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:26153136G>A	ENST00000466284.1	+	4	1852	c.270G>A	c.(268-270)tgG>tgA	p.W90*	MTFR1L_ENST00000374300.3_Nonsense_Mutation_p.W90*|MTFR1L_ENST00000374301.3_Nonsense_Mutation_p.W90*|MTFR1L_ENST00000374303.2_Nonsense_Mutation_p.W90*|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000526894.1_Nonsense_Mutation_p.W90*|MTFR1L_ENST00000374307.5_Nonsense_Mutation_p.W90*|MTFR1L_ENST00000474295.1_Nonsense_Mutation_p.W90*					mitochondrial fission regulator 1-like																		GGCACACCTGGAAACCCAGCC	0.592000													40	62					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144732517	144732517	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:144732517G>T	ENST00000501748.2	+	1	564	c.475G>T	c.(475-477)Ggc>Tgc	p.G159C	ZNF623_ENST00000458270.2_Missense_Mutation_p.G119C|ZNF623_ENST00000526926.1_Missense_Mutation_p.G119C	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGTGGGAAAGGCTTTGGCCA	0.468000													13	78					1.49906e-05	1.51238e-05	1	1	0
RBMS2	5939	broad.mit.edu	37	12	56982080	56982080	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:56982080T>C	ENST00000262031.5	+	12	1160	c.1065T>C	c.(1063-1065)taT>taC	p.Y355Y	RBMS2_ENST00000550726.1_Silent_p.Y230Y|RBMS2_ENST00000552247.2_Silent_p.Y292Y|RBMS2_ENST00000542360.1_Silent_p.Y210Y	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	355					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CTTTCTAGTATATGCCGACGG	0.438000													30	42					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164468161	164468161	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:164468161C>T	ENST00000333129.3	-	3	495	c.181G>A	c.(181-183)Gct>Act	p.A61T	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	61						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCAGTCAGAGCAGATATGTCA	0.502000													35	64					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645212	67645212	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:67645212T>C	ENST00000264010.4	+	3	921	c.477T>C	c.(475-477)ccT>ccC	p.P159P	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	159					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		ACACCCTACCTTTGCCTGAAG	0.493000													10	57					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53240688	53240688	+	Silent	SNP	G	G	C	rs138488705		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:53240688G>C	ENST00000452825.3	-	8	1723	c.1191C>G	c.(1189-1191)ccC>ccG	p.P397P	KDM5C_ENST00000404049.3_Silent_p.P463P|KDM5C_ENST00000375383.3_Silent_p.P423P|KDM5C_ENST00000375401.3_Silent_p.P464P|KDM5C_ENST00000375379.3_Silent_p.P464P	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	464					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCTCCTCTTCGGGGGTTAGGT	0.458000			"""N, F, S"""		clear cell renal carcinoma								8	9					0	0	1	0	0
TBPL1	9519	broad.mit.edu	37	6	134303959	134303959	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:134303959G>A	ENST00000237264.4	+	4	498	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TBPL1_ENST00000367871.1_Missense_Mutation_p.E75K|TBPL1_ENST00000477527.1_3'UTR	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	75					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		CCGTAGTGAAGAAGAAGCTAA	0.333000													21	13					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40622758	40622758	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr21:40622758T>C	ENST00000342449.3	-	20	2391	c.2313A>G	c.(2311-2313)atA>atG	p.I771M	BRWD1_ENST00000333229.2_Missense_Mutation_p.I771M|BRWD1_ENST00000380800.3_Missense_Mutation_p.I771M	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTTTCTTCCTATTATATAAA	0.303000													22	38					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90616390	90616390	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:90616390G>A	ENST00000268154.4	+	3	1797	c.1546G>A	c.(1546-1548)Gtc>Atc	p.V516I		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CCACACCAGCGTCCGGCCCTA	0.567000													24	29					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788518	140788518	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:140788518G>C	ENST00000520790.1	+	1	749	c.749G>C	c.(748-750)aGt>aCt	p.S250T	PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATAGAATTAGTCTTAGTGAA	0.498000													7	21					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102684581	102684581	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:102684581T>C	ENST00000238961.4	+	5	2365	c.1823T>C	c.(1822-1824)tTa>tCa	p.L608S	FAM178A_ENST00000370271.3_Missense_Mutation_p.L608S|FAM178A_ENST00000370269.3_Missense_Mutation_p.L608S	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GAAGAAAGTTTAGGTTACAAC	0.408000													25	43					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53084983	53084983	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:53084983G>A	ENST00000341809.3	-	9	1731	c.1703C>T	c.(1702-1704)tCc>tTc	p.S568F	KRT77_ENST00000537195.1_Missense_Mutation_p.S335F	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	568	Tail.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGTGTTGGTGGAGGTCTGGAT	0.672000													20	31					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46724383	46724383	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:46724383C>T	ENST00000371975.4	+	4	910	c.236C>T	c.(235-237)tCa>tTa	p.S79L	RAD54L_ENST00000442598.1_Missense_Mutation_p.S79L	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	79					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGCATTTTGTCAAAGCCTTTC	0.343000								Direct reversal of damage;Homologous recombination					21	61					0	0	1	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017759	26017759	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:26017759C>T	ENST00000244573.3	-	1	281	c.202G>A	c.(202-204)Gcg>Acg	p.A68T		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	68	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						GCCGCCAGCGCCTTTTTAAGA	0.567000													51	25					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125853780	125853780	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:125853780C>T	ENST00000392693.3	-	16	3109	c.2982G>A	c.(2980-2982)caG>caA	p.Q994Q	CDON_ENST00000263577.7_Silent_p.Q994Q|CDON_ENST00000531738.1_Silent_p.Q371Q	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	994					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTATGGTATTCTGCTGGCGAT	0.393000													8	14					0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46690596	46690596	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:46690596C>T	ENST00000239144.4	-	2	934	c.700G>A	c.(700-702)Gag>Aag	p.E234K	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.E233K	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCGTCGCCCTCGTCCGCCGCC	0.677000													40	92					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731323	23731323	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:23731323C>A	ENST00000304749.2	-	1	251	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	CST1_ENST00000398402.1_Missense_Mutation_p.D61Y	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	61						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)					TAGTAGTCATCTTTGGTGGCC	0.567000													24	69					1.75199e-13	1.81267e-13	1	1	0
BCO2	83875	broad.mit.edu	37	11	112064262	112064262	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:112064262C>G	ENST00000357685.5	+	3	494	c.359C>G	c.(358-360)aCa>aGa	p.T120R	AP002884.3_ENST00000532612.1_Missense_Mutation_p.T91R|BCO2_ENST00000438022.1_Missense_Mutation_p.T86R|BCO2_ENST00000532593.1_Missense_Mutation_p.T15R|BCO2_ENST00000531169.1_Missense_Mutation_p.T86R|BCO2_ENST00000393032.2_Missense_Mutation_p.T86R|BCO2_ENST00000526088.1_Missense_Mutation_p.T86R|SDHD_ENST00000525468.1_3'UTR|SDHD_ENST00000532699.1_3'UTR|BCO2_ENST00000361053.4_Missense_Mutation_p.T120R			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	120					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGCACAGTGACATACAGGAGC	0.428000													8	22					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192288563	192288563	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:192288563G>A	ENST00000392318.3	+	31	3535	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	MYO1B_ENST00000339514.4_Splice_Site_p.E1038E|MYO1B_ENST00000304164.4_Splice_Site_p.E1096E|MYO1B_ENST00000439065.2_Splice_Site_p.E341E|MYO1B_ENST00000392316.1_Splice_Site_p.E1067E	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1096						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTTCTCCTAGGTTCCTGGTAC	0.353000													34	47					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73784433	73784433	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:73784433G>A	ENST00000264448.6	+	14	10273	c.10162G>A	c.(10162-10164)Gag>Aag	p.E3388K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3346K	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3388					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGCAGTGACTGAGGCTGCCCA	0.423000													18	37					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97154370	97154370	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:97154370T>C	ENST00000371247.2	-	15	1547	c.1358A>G	c.(1357-1359)gAa>gGa	p.E453G	SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.E453G|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000347291.4_Missense_Mutation_p.E321G|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371227.4_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	453	SoHo.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTAATTACCTTCAGATTTAGG	0.448000													33	50					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29167722	29167722	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:29167722G>A	ENST00000321990.4	+	4	2542	c.2164G>A	c.(2164-2166)Gaa>Aaa	p.E722K	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	722					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAAGGTGACTGAAGAAATAGC	0.338000													57	69					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31895946	31895946	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:31895946G>A	ENST00000300870.10	+	2	339		c.e2+1		ZNF267_ENST00000394846.3_Splice_Site	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTCTCTCTGGGTGAGGATAAC	0.388000													28	47					0	0	1	0	0
ACADVL	37	broad.mit.edu	37	17	7127557	7127557	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:7127557G>A	ENST00000356839.5	+	15	1706	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	ACADVL_ENST00000350303.5_Silent_p.L487L|ACADVL_ENST00000543245.2_Silent_p.L532L	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	509	Membrane-anchoring (Probable).				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GCAAACAGCTGAGGCGGTAGG	0.597000													25	10					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35261675	35261675	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:35261675G>T	ENST00000373953.3	+	12	1743	c.1477G>T	c.(1477-1479)Ggc>Tgc	p.G493C	ZNF76_ENST00000440666.2_Missense_Mutation_p.G467C|ZNF76_ENST00000339411.5_Intron	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	493					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGCGCCGATGGCACCCAGAC	0.567000													16	26					6.94344e-10	7.10623e-10	1	1	0
SULT6B1	391365	broad.mit.edu	37	2	37402291	37402291	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:37402291T>A	ENST00000535679.1	-	5	607	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Missense_Mutation_p.Y165F|SULT6B1_ENST00000407963.1_Missense_Mutation_p.Y165F			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	203						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CAGGTCTTCATATAATATGAA	0.318000													15	39					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28130464	28130464	+	Silent	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:28130464C>A	ENST00000316334.3	-	7	1584	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	485	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TTCCCCTGCCCCCAGCAACGG	0.483000													25	22					1.64293e-13	1.7014e-13	1	1	0
TRPV1	7442	broad.mit.edu	37	17	3491562	3491562	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:3491562G>A	ENST00000174621.6	-	6	1427	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	TRPV1_ENST00000399756.4_Silent_p.L382L|SHPK_ENST00000572705.1_Silent_p.L382L|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000576351.1_Silent_p.L382L|TRPV1_ENST00000399759.3_Silent_p.L382L|TRPV1_ENST00000425167.2_Silent_p.L393L|TRPV1_ENST00000571088.1_Silent_p.L382L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	382					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGTCGTACAGCGAGGAGTGC	0.632000													8	1					0	0	1	0	0
GALR3	8484	broad.mit.edu	37	22	38219570	38219570	+	Missense_Mutation	SNP	C	C	T	rs78650836	byFrequency	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:38219570C>T	ENST00000249041.2	+	1	182	c.157C>T	c.(157-159)Cct>Tct	p.P53S		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	53					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					CTGGCAGGAGCCTGGCAGCAC	0.632000													10	24					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41622350	41622350	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:41622350G>A	ENST00000319349.5	-	4	493	c.195C>T	c.(193-195)ctC>ctT	p.L65L	ETV4_ENST00000591713.1_Silent_p.L65L|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545954.1_Silent_p.L26L|ETV4_ENST00000545089.1_Silent_p.L65L|ETV4_ENST00000538265.1_Silent_p.L26L|ETV4_ENST00000393664.2_Silent_p.L65L	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	65	Asp/Glu-rich (acidic).				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CACCTTCAGCGAGCCACGTCT	0.537000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								27	53					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124382202	124382202	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:124382202C>T	ENST00000287394.5	-	7	897	c.790G>A	c.(790-792)Gat>Aat	p.D264N	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	264	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcatcatcatcttcatcatct	0.368000													49	24					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131073221	131073221	+	Silent	SNP	C	C	A	rs72756871	by1000genomes	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:131073221C>A	ENST00000372890.4	-	7	948	c.615G>T	c.(613-615)ccG>ccT	p.P205P	TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Silent_p.P149P	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	205					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TTATCAGCATCGGGGACTTGT	0.572000													37	50					9.8876e-21	1.04201e-20	1	1	0
CLTC	1213	broad.mit.edu	37	17	57746245	57746245	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:57746245A>G	ENST00000269122.3	+	14	2510	c.2236A>G	c.(2236-2238)Aga>Gga	p.R746G	CLTC_ENST00000393043.1_Missense_Mutation_p.R746G|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	746	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGAAGTAGAAAGAATCTGTAG	0.393000			T	"""ALK, TFE3"""	"""ALCL, renal """								26	44					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951527	130951527	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:130951527G>A	ENST00000312988.7	-	4	988	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	296					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGGCTGGCTCGAAGCAGGCAT	0.597000													53	81					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189571	26189571	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:26189571A>C	ENST00000374296.3	-	2	1426	c.760T>G	c.(760-762)Ttc>Gtc	p.F254V	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	254					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGAGAAGAAGGCAGCAGCC	0.572000													11	19					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41442074	41442074	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:41442074G>A	ENST00000599198.1	+	0	298					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GTGTGGAGTAGAGGCCATACG	0.587000													14	37					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40627174	40627174	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:40627174C>T	ENST00000372771.4	+	1	130	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	35					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			gTCCATGGTTCGGGGTCATCG	0.697000													6	19					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100346211	100346211	+	Missense_Mutation	SNP	C	C	T	rs139488862		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:100346211C>T	ENST00000294724.4	+	14	2237	c.1759C>T	c.(1759-1761)Cat>Tat	p.H587Y	AGL_ENST00000361522.4_Missense_Mutation_p.H570Y|AGL_ENST00000361915.3_Missense_Mutation_p.H587Y|AGL_ENST00000370165.3_Missense_Mutation_p.H587Y|AGL_ENST00000370163.3_Missense_Mutation_p.H587Y|AGL_ENST00000370161.2_Missense_Mutation_p.H571Y|AGL_ENST00000361302.3_Missense_Mutation_p.H571Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	587					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATAATAGTCATGAAGAGGG	0.398000													59	87					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101625	81101625	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:81101625C>T	ENST00000228641.3	+	1	349	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	43					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACCTTGTCCCCCTGCCAGGA	0.597000													25	33					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195785154	195785154	+	Splice_Site	SNP	C	C	A	rs147330019		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:195785154C>A	ENST00000360110.4	-	16	1847		c.e16+1		TFRC_ENST00000420415.1_Splice_Site|TFRC_ENST00000540528.1_Splice_Site|TFRC_ENST00000535031.1_Splice_Site|TFRC_ENST00000465288.1_5'UTR|TFRC_ENST00000392396.3_Splice_Site	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor						cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		aacaGACTTACCTCGCAAAAA	0.408000			T	BCL6	NHL								22	98					7.45023e-12	7.66637e-12	1	1	0
WRN	7486	broad.mit.edu	37	8	30938709	30938709	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:30938709G>A	ENST00000298139.5	+	9	1415	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	389					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATATGGAAAGAGCTTGTTTG	0.333000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				16	9					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54797438	54797438	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:54797438C>G	ENST00000293379.4	-	17	2008	c.1747G>C	c.(1747-1749)Gat>Cat	p.D583H	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	583					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCTCTGCAATCCTCTCGAGCC	0.627000													17	36					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351455	134351455	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:134351455C>T	ENST00000357304.4	+	15	3994	c.3939C>T	c.(3937-3939)ttC>ttT	p.F1313F	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1313							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCCTCGATTCCGGCGCCTCC	0.632000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	35					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51820663	51820663	+	Silent	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:51820663A>C	ENST00000579534.1	+	10	2192	c.2049A>C	c.(2047-2049)acA>acC	p.T683T	POLI_ENST00000406285.3_Silent_p.T604T|POLI_ENST00000217800.5_Silent_p.T557T|POLI_ENST00000579434.1_Silent_p.T580T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	683					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		CAGTAGCAACAGACTCTCATG	0.398000								DNA polymerases (catalytic subunits)					14	25					0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25264797	25264797	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:25264797G>A	ENST00000354189.5	-	14	1897	c.1862C>T	c.(1861-1863)aCt>aTt	p.T621I	CASC1_ENST00000395990.2_Missense_Mutation_p.T517I|CASC1_ENST00000320267.9_Missense_Mutation_p.T557I|CASC1_ENST00000537577.1_Missense_Mutation_p.T445I|CASC1_ENST00000395987.3_Missense_Mutation_p.T563I|CASC1_ENST00000545133.1_Missense_Mutation_p.T498I	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	557										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AGGAATAGGAGTCATCCAGGT	0.318000													9	68					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210524	37210524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:37210524C>T	ENST00000585696.1	+	3	2035	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	ZNF567_ENST00000588311.1_Nonsense_Mutation_p.Q269*|ZNF567_ENST00000392163.2_Nonsense_Mutation_p.Q269*|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Nonsense_Mutation_p.Q269*|ZNF567_ENST00000536254.2_Nonsense_Mutation_p.Q300*			Q8N184	ZN567_HUMAN	zinc finger protein 567	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATTGATCATCAGAGAACTCA	0.413000													18	24					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50172152	50172152	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:50172152G>A	ENST00000246785.3	+	4	805	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	BCL2L12_ENST00000441864.2_Missense_Mutation_p.E182K|BCL2L12_ENST00000246784.3_Missense_Mutation_p.G135E	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	183					apoptosis			p.E183Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		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;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CCAGCGGCTGGAACAGCTGGT	0.562000													66	58					0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50480416	50480416	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:50480416G>A	ENST00000394963.4	+	3	776	c.378G>A	c.(376-378)aaG>aaA	p.K126K	SMARCD1_ENST00000381513.4_Silent_p.K126K	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	126	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.|Poly-Lys.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CAAAGAAAAAGAAGATGGCTG	0.388000													14	31					0	0	1	0	0
PRR7	80758	broad.mit.edu	37	5	176882880	176882880	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:176882880G>A	ENST00000323249.3	+	4	1073	c.583G>A	c.(583-585)Gag>Aag	p.E195K	PRR7_ENST00000510492.1_Missense_Mutation_p.E195K|PRR7_ENST00000502922.1_Missense_Mutation_p.E195K	NM_030567.4	NP_085044.2	Q8TB68	PRR7_HUMAN	proline rich 7 (synaptic)	195	Pro-rich.					cell junction|integral to membrane|postsynaptic membrane						all_cancers(89;1.51e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGAAGCAGGAGCAGCCGCC	0.731000													9	17					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26925599	26925599	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:26925599G>A	ENST00000321765.5	-	2	438	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	36					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GAGTTGGTGAGGGCACCGGGC	0.562000													10	33					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225389	79225389	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:79225389C>T	ENST00000374759.3	-	14	2352	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	SLC38A10_ENST00000288439.5_Missense_Mutation_p.E657K	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	657					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCGGCTTCTCCGCTGGGAGG	0.662000													8	9					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651367	135651367	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:135651367T>C	ENST00000513104.1	-	3	1163	c.881A>G	c.(880-882)gAt>gGt	p.D294G	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	294					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGTTCACATCACCGTTTAA	0.478000													10	22					0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047055	86047055	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:86047055C>T	ENST00000451137.2	+	2	295	c.71C>T	c.(70-72)tCc>tTc	p.S24F	CYR61_ENST00000480413.1_3'UTR	NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	24					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		CAGGCGCTCTCCACCTGCCCC	0.741000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	0					0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28986590	28986590	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:28986590G>A	ENST00000311008.11	+	1	495	c.118G>A	c.(118-120)Gag>Aag	p.E40K	SPNS1_ENST00000323081.8_5'UTR|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.E85K|SPNS1_ENST00000334536.8_Missense_Mutation_p.E40K|RP11-264B17.4_ENST00000567209.1_RNA|SPNS1_ENST00000352260.7_Missense_Mutation_p.E40K	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	40					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CGAGGAGCCCGAGGTCCCGGA	0.687000													5	4					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20758834	20758834	+	Silent	SNP	G	G	A	rs9465881		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:20758834G>A	ENST00000274695.4	+	7	644	c.477G>A	c.(475-477)caG>caA	p.Q159Q	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Silent_p.Q89Q|CDKAL1_ENST00000378610.1_Silent_p.Q159Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	159	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			AGGTTCAGCAGATAGATCGTG	0.313000													21	21					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396854	43396854	+	Silent	SNP	C	C	T	rs149998596		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:43396854C>T	ENST00000426263.3	-	3	316	c.138G>A	c.(136-138)caG>caA	p.Q46Q	SLC2A1_ENST00000415851.2_Silent_p.Q46Q|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Silent_p.Q46Q	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	46					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGACCCATGTCTGGTTGTAGA	0.602000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111425307	111425307	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:111425307G>A	ENST00000436913.2	+	3	529	c.128G>A	c.(127-129)aGa>aAa	p.R43K	LAYN_ENST00000525126.1_Missense_Mutation_p.R196K|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000375615.3_Missense_Mutation_p.R196K|LAYN_ENST00000375614.2_Missense_Mutation_p.R188K|LAYN_ENST00000533265.1_Missense_Mutation_p.R188K	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	196						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GTTCCTTCTAGAGAAGCTGAA	0.408000													19	47					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1636082	1636082	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:1636082G>A	ENST00000409644.1	+	6	4446	c.4446G>A	c.(4444-4446)ctG>ctA	p.L1482L	WDR81_ENST00000446363.1_Silent_p.L121L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.L113L|WDR81_ENST00000419248.1_Silent_p.L255L|WDR81_ENST00000437219.2_Silent_p.L279L|WDR81_ENST00000309182.5_Silent_p.L431L	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	255										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTTCACCCTGGAGATGGCAT	0.627000													88	8					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236341899	236341899	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:236341899C>T	ENST00000366592.3	+	3	741	c.650C>T	c.(649-651)tCt>tTt	p.S217F	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	217						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TACAAAATCTCTAAGATGTCC	0.458000													19	47					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152529144	152529144	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:152529144G>A	ENST00000397345.3	-	37	4240	c.4038C>T	c.(4036-4038)ttC>ttT	p.F1346F	NEB_ENST00000604864.1_Silent_p.F1346F|NEB_ENST00000172853.10_Silent_p.F1346F|NEB_ENST00000603639.1_Silent_p.F1346F|NEB_ENST00000409198.1_Silent_p.F1346F|NEB_ENST00000427231.2_Silent_p.F1346F	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1346					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGAGGCTTCTGAAACCCACAT	0.433000													51	80					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34959015	34959015	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:34959015C>G	ENST00000250156.7	+	2	815	c.576C>G	c.(574-576)agC>agG	p.S192R	MRM1_ENST00000585770.1_5'UTR	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	192					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCAAGTCCAGCGCGGGGGCTA	0.597000													21	39					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226564895	226564895	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:226564895C>T	ENST00000366794.5	-	13	1998	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	619					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTTTTTTCTTCATATAATTTC	0.473000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					187	118					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29553672	29553672	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:29553672T>C	ENST00000358273.4	+	18	2604	c.2221T>C	c.(2221-2223)Ttt>Ctt	p.F741L	NF1_ENST00000356175.3_Missense_Mutation_p.F741L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	741					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTCATGGAGTTTGCCTCTGT	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			33	72					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59179198	59179198	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:59179198G>A	ENST00000380516.2	-	19	2898	c.2811C>T	c.(2809-2811)atC>atT	p.I937I	SLTM_ENST00000536328.1_Silent_p.I506I	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	937					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCGGTCTGTGATGACTCCTC	0.572000													15	36					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035165	110035165	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:110035165G>C	ENST00000453089.2	+	5	2143	c.1262G>C	c.(1261-1263)aGa>aCa	p.R421T	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R452T|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R453T			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	452							endonuclease activity|nucleic acid binding|zinc ion binding			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)		GCCATGTCTAGAAATACGGCA	0.493000													9	17					0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74494512	74494512	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:74494512C>T	ENST00000323940.5	-	2	342	c.97G>A	c.(97-99)Gag>Aag	p.E33K	STRA6_ENST00000416286.3_Missense_Mutation_p.E33K|STRA6_ENST00000449139.2_Missense_Mutation_p.E33K|STRA6_ENST00000423167.2_Missense_Mutation_p.E33K|STRA6_ENST00000535552.1_Missense_Mutation_p.E70K|STRA6_ENST00000432245.2_Missense_Mutation_p.E33K|STRA6_ENST00000563965.1_Missense_Mutation_p.E72K|STRA6_ENST00000574278.1_Missense_Mutation_p.E48K|STRA6_ENST00000395105.4_Missense_Mutation_p.E33K|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	33					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GGCTGGAGCTCCTCGCCCCCC	0.627000													4	6					0	0	1	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104080889	104080889	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:104080889G>A	ENST00000395862.3	+	13	1222	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.D280N|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.D355N|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.D280N	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	355					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GGCTCCTATGGATATTCCAGG	0.338000													26	76					0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48417712	48417712	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:48417712G>C	ENST00000376771.4	+	5	1024	c.683G>C	c.(682-684)gGt>gCt	p.G228A	TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	228	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TATCATGGCGGTGTGGAGCCC	0.582000													7	0					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92130940	92130940	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:92130940G>A	ENST00000248633.4	-	15	2559	c.2464C>T	c.(2464-2466)Ctt>Ttt	p.L822F	PEX1_ENST00000428214.1_Missense_Mutation_p.L765F|PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.L500F	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	822					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GACGCAGGAAGAAATCCGCGG	0.378000													79	19					0	0	1	0	0
WDR73	84942	broad.mit.edu	37	15	85189045	85189045	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:85189045C>T	ENST00000434634.2	-	7	600	c.540G>A	c.(538-540)ctG>ctA	p.L180L	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	180										cervix(1)|large_intestine(1)|lung(1)	3						GCAGGCTACTCAGCTCCTCAC	0.592000													8	11					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828765	59828765	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:59828765G>A	ENST00000278865.3	+	2	205	c.132G>A	c.(130-132)caG>caA	p.Q44Q	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Silent_p.Q44Q|MS4A3_ENST00000358152.2_Silent_p.Q44Q	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	44						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGATTATCAGAAAGCAAAAT	0.453000													24	51					0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73871046	73871046	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:73871046G>C	ENST00000254816.2	-	6	1461	c.1435C>G	c.(1435-1437)Cga>Gga	p.R479G	TRIM47_ENST00000587339.1_Missense_Mutation_p.R241G	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	479	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGGTGCCTCGGTCCAGGGCA	0.617000													22	27					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185125739	185125739	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:185125739C>T	ENST00000367506.5	-	1	374	c.106G>A	c.(106-108)Gct>Act	p.A36T	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	36						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ggggccggagctgggACCCCA	0.741000													14	5					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49971741	49971741	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:49971741T>G	ENST00000293350.4	+	15	2205	c.2042T>G	c.(2041-2043)cTg>cGg	p.L681R	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.L516R|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.L518R|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.L630R|CTD-3148I10.9_ENST00000599536.1_Intron	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	681							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTGTCCCTGCTGGCTCCCGCC	0.697000													57	101					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198069	58198069	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:58198069C>T	ENST00000282296.5	+	3	611	c.426C>T	c.(424-426)tgC>tgT	p.C142C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Silent_p.C126C			Q7Z340	ZN551_HUMAN	zinc finger protein 551	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGGCTTCTGCTTCAGTGCTG	0.498000													44	48					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17566885	17566885	+	RNA	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr21:17566885G>A	ENST00000458468.1	+	0	409					NR_027790.1																						ACAACCATAGGCAAAACTGAA	0.443000													17	27					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371833	139371833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:139371833G>A	ENST00000313050.7	-	1	308	c.235C>T	c.(235-237)Caa>Taa	p.Q79*		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2042					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTGGGCCTTGCAAGACAGGT	0.582000													29	19					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47960788	47960788	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:47960788C>T	ENST00000236877.6	-	3	1134	c.739G>A	c.(739-741)Gac>Aac	p.D247N	SLC8A2_ENST00000542837.1_Missense_Mutation_p.D3N|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	247					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGCCGCTTGTCGGCCATCCAG	0.682000													9	11					0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5890387	5890387	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:5890387C>T	ENST00000581347.2	-	3	2321	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	TMEM200C_ENST00000383490.2_Missense_Mutation_p.R559Q|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C							integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						AGCAGAGTCTCGCGTTTGACC	0.677000													8	23					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43054554	43054554	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:43054554G>A	ENST00000458501.2	+	18	1834	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	HGSNAT_ENST00000521576.1_Missense_Mutation_p.V301I|HGSNAT_ENST00000379644.4_Missense_Mutation_p.V584I|HGSNAT_ENST00000297798.7_Missense_Mutation_p.V316I			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	612					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TCTGGTATATGTCGGCCACGA	0.448000													7	9					0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17814738	17814738	+	Missense_Mutation	SNP	C	C	A	rs144209734		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:17814738C>A	ENST00000251496.2	+	3	690	c.514C>A	c.(514-516)Ccc>Acc	p.P172T		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	172					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ACTTCAGGATCCCAAGGATGA	0.333000													16	80					1.15088e-07	1.16838e-07	1	1	0
CDH18	1016	broad.mit.edu	37	5	19747210	19747210	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:19747210T>C	ENST00000507958.1	-	6	1354	c.364A>G	c.(364-366)Acc>Gcc	p.T122A	CDH18_ENST00000502796.1_Missense_Mutation_p.T122A|CDH18_ENST00000511273.1_Missense_Mutation_p.T122A|CDH18_ENST00000506372.1_Missense_Mutation_p.T122A|CDH18_ENST00000274170.4_Missense_Mutation_p.T122A|CDH18_ENST00000382275.1_Missense_Mutation_p.T122A			Q13634	CAD18_HUMAN	cadherin 18, type 2	122	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACATAGTGGGTCTTCTGCTCT	0.433000													36	96					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34659801	34659801	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:34659801G>A	ENST00000555003.1	+	9	2212	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	IL11RA_ENST00000378817.4_Missense_Mutation_p.G286R|IL11RA_ENST00000602473.1_Missense_Mutation_p.G286R|IL11RA_ENST00000318041.9_Missense_Mutation_p.G286R|IL11RA_ENST00000441545.2_Missense_Mutation_p.G286R			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	286	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	TGCTGTGGCTGGGCTGCCCCA	0.612000													19	22					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84457880	84457880	+	Silent	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:84457880C>G	ENST00000395226.2	+	2	323	c.105C>G	c.(103-105)tcC>tcG	p.S35S	AGPAT9_ENST00000264409.4_Silent_p.S35S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	35					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TGGGCATCTCCGAGATCTACA	0.592000													21	25					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130851733	130851733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:130851733C>T	ENST00000245255.3	+	19	2523	c.2251C>T	c.(2251-2253)Cag>Tag	p.Q751*	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	751	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATTTTTTGCTCAGTCTGGAGG	0.398000													37	66					0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661583	44661583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:44661583C>T	ENST00000426739.2	+	6	1672	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.Q472*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CTCACGACTTCAGATTCACCA	0.413000													24	36					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6241783	6241783	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:6241783G>A	ENST00000381434.3	+	1	102	c.89G>A	c.(88-90)gGa>gAa	p.G30E	IL33_ENST00000417746.2_Missense_Mutation_p.G30E|IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Missense_Mutation_p.G30E	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	30					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TTCAAGCTGGGAAGTAAGGAC	0.323000													7	17					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204360077	204360077	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:204360077C>T	ENST00000319170.5	-	2	300		c.e2-1		RAPH1_ENST00000374489.2_Splice_Site|RAPH1_ENST00000374488.2_Splice_Site|RAPH1_ENST00000308091.4_Splice_Site|RAPH1_ENST00000457812.1_Splice_Site|RAPH1_ENST00000453034.1_Splice_Site	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1						cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGCTCCATCTGAAATACAG	0.378000													23	62					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203383738	203383738	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:203383738G>T	ENST00000374580.4	+	6	1354	c.815G>T	c.(814-816)cGc>cTc	p.R272L	BMPR2_ENST00000374574.2_Missense_Mutation_p.R272L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	272	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCAGATGGACGCATGGAATAT	0.413000													48	75					3.31993e-32	3.51503e-32	1	1	0
BIK	638	broad.mit.edu	37	22	43525274	43525274	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:43525274C>G	ENST00000216115.2	+	5	509	c.446C>G	c.(445-447)cCg>cGg	p.P149R		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	149	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				ctgctgctgccgctgctCAGC	0.731000													4	22					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42768746	42768746	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:42768746T>G	ENST00000432191.2	+	4	288	c.216T>G	c.(214-216)aaT>aaG	p.N72K	PPHLN1_ENST00000552761.1_Missense_Mutation_p.N79K|PPHLN1_ENST00000337898.6_Missense_Mutation_p.N72K|PPHLN1_ENST00000395568.2_Missense_Mutation_p.N127K|PPHLN1_ENST00000358314.7_Missense_Mutation_p.N127K|PPHLN1_ENST00000317560.9_Missense_Mutation_p.N79K|PPHLN1_ENST00000449194.2_Missense_Mutation_p.N127K|PPHLN1_ENST00000256678.8_Missense_Mutation_p.N26K|PPHLN1_ENST00000395580.3_Missense_Mutation_p.N134K|PPHLN1_ENST00000549190.1_Missense_Mutation_p.N145K	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	127					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AAAGGGACAATACTTTTTTCA	0.413000													33	36					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122795	119122795	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:119122795T>G	ENST00000378204.2	-	1	1297	c.491A>C	c.(490-492)gAc>gCc	p.D164A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	164			D -> H (in EXT1; loss of activity).		glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGACAACTGGTCTCTGTCTAA	0.458000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				151	85					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130941385	130941385	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:130941385C>G	ENST00000538431.1	-	8	1348	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	CIZ1_ENST00000541172.1_Missense_Mutation_p.Q266H|CIZ1_ENST00000277465.4_Missense_Mutation_p.Q367H|CIZ1_ENST00000325721.8_Missense_Mutation_p.Q338H|CIZ1_ENST00000393608.1_Missense_Mutation_p.Q367H|CIZ1_ENST00000372938.5_Missense_Mutation_p.Q367H|CIZ1_ENST00000357558.5_Missense_Mutation_p.Q367H|CIZ1_ENST00000372948.3_Missense_Mutation_p.Q367H|CIZ1_ENST00000372954.1_Missense_Mutation_p.Q343H|CIZ1_ENST00000476727.2_Intron	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	367	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						gctctgcctcctgctgcagct	0.612000													14	9					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19965022	19965022	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:19965022C>T	ENST00000263207.3	-	9	2077	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	ARVCF_ENST00000401994.1_Missense_Mutation_p.E533K|ARVCF_ENST00000406522.1_Missense_Mutation_p.E533K|ARVCF_ENST00000344269.3_Missense_Mutation_p.E533K|ARVCF_ENST00000406259.1_Missense_Mutation_p.E596K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	596					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCCCGGGCTCGGCCTCCTGG	0.672000													242	54					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1344470	1344470	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:1344470C>T	ENST00000320895.5	-	2	516	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.E87K	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	87					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCATACCTTTCAAATTTGGAC	0.428000													12	20					0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134137	21134137	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:21134137G>A	ENST00000215727.5	+	2	820	c.537G>A	c.(535-537)tcG>tcA	p.S179S	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.S179S	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	179					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AAGTGCACTCGATTTTGCATT	0.433000													309	65					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67895860	67895860	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:67895860C>T	ENST00000370994.4	-	1	238	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	SERBP1_ENST00000361219.6_Missense_Mutation_p.G42S|SERBP1_ENST00000370990.5_Missense_Mutation_p.G42S|SERBP1_ENST00000370995.2_Missense_Mutation_p.G42S	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	42					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CCGCCCCCGCCGGCTTCTTTT	0.632000													30	39					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129845659	129845659	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:129845659C>T	ENST00000254667.3	+	4	394	c.115C>T	c.(115-117)Ccg>Tcg	p.P39S	PTPRE_ENST00000419012.2_Missense_Mutation_p.P39S|PTPRE_ENST00000471218.1_Missense_Mutation_p.P39S|PTPRE_ENST00000430713.2_Missense_Mutation_p.P39S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	39					negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGCAGGCCCTCCGGACCCGGG	0.612000													6	5					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040168	128040168	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:128040168G>A	ENST00000338791.6	-	9	1205	c.855C>T	c.(853-855)atC>atT	p.I285I	IMPDH1_ENST00000343214.4_Silent_p.I175I|IMPDH1_ENST00000480861.1_Silent_p.I195I|IMPDH1_ENST00000470772.1_Silent_p.I199I|IMPDH1_ENST00000354269.5_Silent_p.I275I|IMPDH1_ENST00000496200.1_Silent_p.I175I|IMPDH1_ENST00000348127.6_Silent_p.I249I|IMPDH1_ENST00000378717.4_Silent_p.I216I|IMPDH1_ENST00000419067.2_Silent_p.I252I	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	200			A -> T.		GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TACGCTGCAGGATCTCATTTG	0.547000													125	35					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1006710	1006710	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:1006710A>C	ENST00000537687.1	+	25	7734	c.7091A>C	c.(7090-7092)aAa>aCa	p.K2364T	WNK1_ENST00000340908.4_Missense_Mutation_p.K1697T|WNK1_ENST00000535572.1_Missense_Mutation_p.K1856T|WNK1_ENST00000315939.6_Missense_Mutation_p.K2104T|WNK1_ENST00000530271.2_Missense_Mutation_p.K2602T	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2104					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTGTATACCAAACTGGGCAAG	0.453000													17	35					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51475764	51475764	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:51475764C>G	ENST00000335891.5	-	6	672	c.663G>C	c.(661-663)atG>atC	p.M221I				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	670					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CATCTACAGCCATGTCACCAT	0.502000													57	68					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37865656	37865656	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:37865656G>A	ENST00000406381.2	+	6	945	c.435G>A	c.(433-435)aaG>aaA	p.K145K	ERBB2_ENST00000541774.1_Silent_p.K160K|ERBB2_ENST00000540042.1_Silent_p.K145K|ERBB2_ENST00000269571.5_Silent_p.K175K|ERBB2_ENST00000584450.1_Silent_p.K175K|ERBB2_ENST00000540147.1_Silent_p.K145K|ERBB2_ENST00000584601.1_Silent_p.K145K|ERBB2_ENST00000578199.1_Silent_p.K145K|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	175					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCTTCCACAAGAACAACCAGC	0.567000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			18	36					0	0	1	0	0
NABP1	64859	broad.mit.edu	37	2	192543425	192543425	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:192543425G>A	ENST00000425611.2	+	1	168	c.85G>A	c.(85-87)Gag>Aag	p.E29K	NABP1_ENST00000409510.1_Intron|NABP1_ENST00000410026.2_Intron	NM_001031716.2	NP_001026886.1			nucleic acid binding protein 1																		TATTGTCCTGGAGATAGGTAA	0.577000													52	89					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590824	172590824	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:172590824G>A	ENST00000231668.9	+	7	820	c.716G>A	c.(715-717)cGc>cAc	p.R239H	BNIP1_ENST00000352523.6_Missense_Mutation_p.R205H|BNIP1_ENST00000393770.4_Missense_Mutation_p.R162H|BNIP1_ENST00000351486.5_Missense_Mutation_p.R196H	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	196					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAATACAATCGCCGGGAGCTG	0.478000													27	36					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121476582	121476582	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:121476582C>T	ENST00000257570.5	-	1	463	c.193G>A	c.(193-195)Gtc>Atc	p.V65I	OASL_ENST00000339275.5_Missense_Mutation_p.V65I	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	65					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTACCTTGACTACCTTCAGC	0.607000													7	19					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44893757	44893757	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:44893757G>C	ENST00000326047.4	+	34	4179	c.4030G>C	c.(4030-4032)Gta>Cta	p.V1344L	KIF15_ENST00000425755.1_Missense_Mutation_p.V979L	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1344					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGGAAAGTTGGTAGGTCACCA	0.403000													26	20					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20403795	20403795	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:20403795G>A	ENST00000381150.1	-	4	796	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	SDC1_ENST00000403076.1_Silent_p.L136L|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000254351.4_Silent_p.L136L	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	136			L -> Q (in dbSNP:rs10205485).		lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTTGAGGCCAGATGAGTGGTC	0.687000													53	76					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17846803	17846803	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:17846803C>T	ENST00000448223.2	-	28	3508	c.3239G>A	c.(3238-3240)aGa>aAa	p.R1080K	SMC6_ENST00000402989.1_Missense_Mutation_p.R1080K|SMC6_ENST00000381272.4_Missense_Mutation_p.R1106K|SMC6_ENST00000351948.4_Missense_Mutation_p.R1080K	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1080					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTCACAGGTCTGAAAGGCAA	0.378000													26	60					0	0	1	0	0
SCRN3	79634	broad.mit.edu	37	2	175289227	175289227	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:175289227T>G	ENST00000272732.6	+	7	1024	c.942T>G	c.(940-942)ttT>ttG	p.F314L	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.F307L	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	314					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			CTTTCATATTTGTGCCACATA	0.294000													46	50					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155004162	155004162	+	Silent	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:155004162A>G	ENST00000368424.3	-	4	685	c.627T>C	c.(625-627)tgT>tgC	p.C209C	DCST2_ENST00000295536.5_Silent_p.C209C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	209						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAACCCGTGCACACTTCAGGT	0.572000													20	40					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354935	38354935	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:38354935T>C	ENST00000273173.4	+	6	1213	c.1122T>C	c.(1120-1122)aaT>aaC	p.N374N	SLC22A14_ENST00000448498.1_Silent_p.N374N	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	374						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCTGTAAGAATAGGCAGCTCT	0.577000													29	33					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185252775	185252775	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:185252775C>T	ENST00000296252.4	-	2	336	c.195G>A	c.(193-195)ttG>ttA	p.L65L	LIPH_ENST00000424591.2_Silent_p.L65L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	65					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGGTCACATTCAAGTTCCCAA	0.483000													12	109					0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43048974	43048974	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:43048974T>C	ENST00000458501.2	+	14	1536	c.1536T>C	c.(1534-1536)ttT>ttC	p.F512F	HGSNAT_ENST00000521576.1_Silent_p.F201F|HGSNAT_ENST00000379644.4_Silent_p.F484F|HGSNAT_ENST00000297798.7_Silent_p.F216F			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	512					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGATGGCCTTTTTAGGAGTTC	0.393000													12	47					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149474776	149474776	+	RNA	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:149474776C>T	ENST00000378016.2	+	0	575							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAGCGTCCCTCGGCCACCTGT	0.672000													12	12					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947113	101947113	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:101947113G>C	ENST00000394854.3	-	14	2158	c.1475C>G	c.(1474-1476)tCt>tGt	p.S492C	PPP3CA_ENST00000523694.2_Missense_Mutation_p.S425C|PPP3CA_ENST00000507176.1_Missense_Mutation_p.S394C|PPP3CA_ENST00000394853.4_Missense_Mutation_p.S482C|PPP3CA_ENST00000512215.1_Missense_Mutation_p.S260C|PPP3CA_ENST00000323055.6_Missense_Mutation_p.S440C	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	492					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GTTGGCGTCAGAGGGCATGGC	0.493000													65	84					0	0	1	0	0
CYB561D1	284613	broad.mit.edu	37	1	110037767	110037767	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:110037767C>T	ENST00000496961.1	+	2	212	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000528785.1_Missense_Mutation_p.L51F|CYB561D1_ENST00000310611.4_Silent_p.V85V|CYB561D1_ENST00000533024.1_Silent_p.V6V|CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000420578.2_Missense_Mutation_p.L51F|CYB561D1_ENST00000430195.2_Silent_p.V85V	NM_182580.2	NP_872386.1	Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	51	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATTCTTAGGTCTTTTCTCCTG	0.498000													63	100					0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40523412	40523412	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:40523412A>C	ENST00000447116.2	+	3	390	c.83A>C	c.(82-84)tAc>tCc	p.Y28S	ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000432264.2_Missense_Mutation_p.Y28S|ZNF619_ENST00000521353.1_Missense_Mutation_p.Y28S|ZNF619_ENST00000522736.1_5'UTR|ZNF619_ENST00000429348.2_Missense_Mutation_p.Y28S|ZNF619_ENST00000314686.5_5'UTR|ZNF619_ENST00000456778.1_Intron	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	28					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTGGCTGTGTACTTCACCCAG	0.527000													42	54					0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103722656	103722656	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:103722656C>G	ENST00000453744.2	-	6	772	c.259G>C	c.(259-261)Gat>Cat	p.D87H	UBE2D3_ENST00000394801.4_Missense_Mutation_p.D87H|UBE2D3_ENST00000394804.2_Missense_Mutation_p.D87H|UBE2D3_ENST00000350435.7_Missense_Mutation_p.D81H|UBE2D3_ENST00000321805.7_Missense_Mutation_p.D87H|UBE2D3_ENST00000507845.1_Missense_Mutation_p.D58H|UBE2D3_ENST00000338145.3_Missense_Mutation_p.D87H|UBE2D3_ENST00000504211.1_Missense_Mutation_p.D58H|UBE2D3_ENST00000394803.5_Missense_Mutation_p.D87H|UBE2D3_ENST00000343106.5_Missense_Mutation_p.D87H|UBE2D3_ENST00000349311.8_Missense_Mutation_p.D87H|UBE2D3_ENST00000505207.1_Missense_Mutation_p.D58H|UBE2D3_ENST00000502404.1_Missense_Mutation_p.D58H|UBE2D3_ENST00000357194.6_Missense_Mutation_p.D89H	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	87					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CTTAGAATATCGAGACAAATG	0.284000													22	31					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189570	26189570	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:26189570A>G	ENST00000374296.3	-	2	1427	c.761T>C	c.(760-762)tTc>tCc	p.F254S	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	254					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGAGAAGAAGGCAGCAGC	0.577000													10	18					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84904677	84904677	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:84904677C>T	ENST00000403245.3	-	10	1066	c.952G>A	c.(952-954)Gat>Aat	p.D318N	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.D242N	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	318					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTCTTGATATCTTCCACTGTG	0.358000													18	7					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138145484	138145484	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:138145484A>G	ENST00000343526.4	+	1	406	c.191A>G	c.(190-192)cAg>cGg	p.Q64R	TRIM24_ENST00000415680.2_Missense_Mutation_p.Q64R			O15164	TIF1A_HUMAN	tripartite motif containing 24	64					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAGAACATCCAGAGCCGGGCG	0.721000													20	0					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43638511	43638511	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:43638511C>T	ENST00000372492.4	+	2	411	c.87C>T	c.(85-87)atC>atT	p.I29I	WDR65_ENST00000528956.1_Silent_p.I29I	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	29										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGAACAGATCATTATATTTC	0.418000													19	40					0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	56033282	56033282	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:56033282G>A	ENST00000456986.1	+	21	2122	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	NEDD4L_ENST00000400345.3_Missense_Mutation_p.E629K|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000382850.4_Missense_Mutation_p.E609K|NEDD4L_ENST00000435432.2_Missense_Mutation_p.E488K|NEDD4L_ENST00000256830.9_Missense_Mutation_p.E525K|NEDD4L_ENST00000356462.6_Missense_Mutation_p.E565K|NEDD4L_ENST00000456173.2_Missense_Mutation_p.E488K|NEDD4L_ENST00000357895.5_Missense_Mutation_p.E621K|NEDD4L_ENST00000256832.7_Missense_Mutation_p.E489K|NEDD4L_ENST00000586263.1_Missense_Mutation_p.E601K|NEDD4L_ENST00000431212.2_Missense_Mutation_p.E508K	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	629	WW 3.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TAACATATTTGAAGAGTCCTA	0.368000													11	18					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166377	79166377	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:79166377C>T	ENST00000269392.4	-	20	2702	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	AZI1_ENST00000374782.3_Missense_Mutation_p.E780K|AZI1_ENST00000575907.1_Missense_Mutation_p.E783K|AZI1_ENST00000450824.2_Missense_Mutation_p.E816K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	819					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTCAGCTCTTCCAGCTCCGCC	0.677000													7	8					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30724325	30724325	+	Missense_Mutation	SNP	C	C	A	rs139819358		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:30724325C>A	ENST00000361762.2	+	1	2289	c.1281C>A	c.(1279-1281)gaC>gaA	p.D427E	PCDH7_ENST00000543491.1_Missense_Mutation_p.D427E	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	427	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCCTCAAGGACGGGGTGGCCA	0.612000													11	8					1.08611e-07	1.10361e-07	1	1	0
C9orf66	157983	broad.mit.edu	37	9	214920	214920	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:214920C>T	ENST00000382387.2	-	1	973	c.477G>A	c.(475-477)ctG>ctA	p.L159L	DOCK8_ENST00000453981.1_5'UTR|DOCK8_ENST00000432829.2_5'UTR	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	159										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TGCGGCGCGCCAGGCCCCCGC	0.677000													12	9					0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68057079	68057079	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:68057079G>A	ENST00000332395.5	-	1	691	c.27C>T	c.(25-27)ctC>ctT	p.L9L	DUS2_ENST00000565263.1_5'UTR	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	9						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CGAGGGAAAAGAGCCGCACCG	0.682000													8	21					0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531689	89531689	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:89531689G>T	ENST00000329758.1	-	8	1296	c.968C>A	c.(967-969)gCa>gAa	p.A323E	TRIM49_ENST00000532501.2_Missense_Mutation_p.A246E	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	323	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCTAGGTGTTGCAGTGAAATA	0.428000													14	36					8.60227e-14	8.91651e-14	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18057192	18057192	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:18057192G>A	ENST00000205890.5	+	43	8408	c.8070G>A	c.(8068-8070)aaG>aaA	p.K2690K	MYO15A_ENST00000418233.3_5'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2690	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCTGGAAGATCTTCCTGC	0.652000													23	26					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													6	79					0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613863	613863	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:613863C>T	ENST00000397566.1	-	6	1217	c.808G>A	c.(808-810)Gag>Aag	p.E270K	IRF7_ENST00000397574.2_Missense_Mutation_p.E257K|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000330243.5_Missense_Mutation_p.E270K|IRF7_ENST00000397570.1_Missense_Mutation_p.E228K|IRF7_ENST00000525445.1_Missense_Mutation_p.E151K|IRF7_ENST00000348655.6_Missense_Mutation_p.E228K	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	257					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCGCGGCCTCGCCTGCATCC	0.677000													6	2					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47856012	47856012	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr21:47856012C>T	ENST00000359568.5	+	39	9054	c.8947C>T	c.(8947-8949)Ctc>Ttc	p.L2983F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2983	Interaction with NEK2.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCGGCTGCTCTCTGCCGC	0.697000													15	18					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40826422	40826422	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40826422G>A	ENST00000293349.6	-	2	598	c.168C>T	c.(166-168)ccC>ccT	p.P56P	PLEKHH3_ENST00000591022.1_Silent_p.P56P|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Silent_p.P56P			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	56					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TCACTTCCAGGGGACCCTGGG	0.647000													6	13					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85691140	85691140	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr16:85691140G>C	ENST00000253458.7	+	8	1746	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	GSE1_ENST00000393243.1_Missense_Mutation_p.E451Q|GSE1_ENST00000405402.2_Missense_Mutation_p.E420Q	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GCAGGTGCTGGAGCAGCACCT	0.687000													3	7					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25810720	25810720	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:25810720C>T	ENST00000374343.4	+	7	1447	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	TMEM57_ENST00000399763.3_Missense_Mutation_p.S65L|TMEM57_ENST00000399766.3_Missense_Mutation_p.S196L	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	423						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATCCGCTCAGAAATGGGC	0.557000													22	29					0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141622523	141622523	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:141622523G>A	ENST00000462082.1	+	2	118	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ATP1B3_ENST00000286371.3_Silent_p.T57T|ATP1B3_ENST00000539728.1_Silent_p.T43T			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	0					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						TCTCATTCACGATGTGGGTTA	0.403000													35	26					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585849	7585849	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:7585849A>G	ENST00000379802.3	+	24	8695	c.8354A>G	c.(8353-8355)tAt>tGt	p.Y2785C	DSP_ENST00000418664.2_Missense_Mutation_p.Y2186C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2785	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAATATCCTATAAGGATGCC	0.532000													78	35					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66665001	66665001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:66665001C>T	ENST00000488550.1	+	2	444	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	MEIS1_ENST00000444274.2_Nonsense_Mutation_p.Q17*|MEIS1_ENST00000398506.2_Nonsense_Mutation_p.Q47*|MEIS1_ENST00000407092.2_Nonsense_Mutation_p.Q49*|MEIS1_ENST00000272369.9_Nonsense_Mutation_p.Q49*|MEIS1_ENST00000560281.2_Nonsense_Mutation_p.Q49*			O00470	MEIS1_HUMAN	Meis homeobox 1	49							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCACTCGCATCAGTACCCGCA	0.577000													4	7					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153494	105153494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:105153494C>T	ENST00000428173.2	+	13	2167	c.1864C>T	c.(1864-1866)Cag>Tag	p.Q622*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q621*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	621							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGGATCACCTCAGGCACAGGC	0.498000										HNSCC(51;0.14)			8	1					0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57908461	57908461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:57908461G>T	ENST00000366197.5	+	2	311	c.61G>T	c.(61-63)Gag>Tag	p.E21*	AC003002.6_ENST00000600421.1_3'UTR|ZNF548_ENST00000598895.1_Nonsense_Mutation_p.E33*|ZNF548_ENST00000597400.1_Nonsense_Mutation_p.E33*|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E33*|AC003002.4_ENST00000597658.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		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;0.026)		CTCCCAGGAGGAGTGGGGGCA	0.493000													8	290					1.58986e-06	1.60828e-06	1	1	0
OR52K2	119774	broad.mit.edu	37	11	4471445	4471445	+	Silent	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:4471445A>C	ENST00000325719.4	+	1	921	c.876A>C	c.(874-876)atA>atC	p.I292I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAATCCCATAATCTATGGTG	0.498000													40	49					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179618	134179618	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:134179618A>G	ENST00000431683.2	+	11	1060	c.1060A>G	c.(1060-1062)Aca>Gca	p.T354A		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	354					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GAACGGGGCCACATATTTCGG	0.488000													10	10					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49758659	49758659	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:49758659T>G	ENST00000327697.6	+	39	4010	c.3866T>G	c.(3865-3867)tTc>tGc	p.F1289C	GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.F401C|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1289						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		AAGGACTGCTTCTTCTGCAAA	0.557000													84	66					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53432347	53432347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:53432347G>A	ENST00000549216.1	-	2	374	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Nonsense_Mutation_p.Q171*|ZNF321P_ENST00000391777.3_Nonsense_Mutation_p.Q171*	NM_001202473.1	NP_001189402.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q102E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CATTCAGGCTGAAATATGTGG	0.403000													79	211					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30697461	30697461	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:30697461G>A	ENST00000256246.2	-	2	7108	c.7034C>T	c.(7033-7035)aCa>aTa	p.T2345I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2345										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTTGATTTTTGTGACATCTTT	0.294000													29	15					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10531645	10531645	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:10531645G>A	ENST00000352831.6	+	1	315	c.205G>A	c.(205-207)Gat>Aat	p.D69N	PDE4A_ENST00000592685.1_Intron|PDE4A_ENST00000380702.2_Intron	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	69		Cleavage; by caspase-3.			signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGAGCGCGCCGATGCCATGGA	0.756000													3	3					0	0	1	0	0
DPM3	54344	broad.mit.edu	37	1	155112691	155112691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:155112691C>T	ENST00000368399.1	-	1	192	c.116G>A	c.(115-117)tGg>tAg	p.W39*	DPM3_ENST00000341298.3_Nonsense_Mutation_p.W9*|DPM3_ENST00000368400.4_Nonsense_Mutation_p.W9*	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	9					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCTAGTCCCCAAAGCCACTG	0.612000													7	9					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182413485	182413485	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:182413485G>A	ENST00000410087.3	-	7	1095	c.995C>T	c.(994-996)gCt>gTt	p.A332V	CERKL_ENST00000374970.2_Missense_Mutation_p.A263V|CERKL_ENST00000374969.2_Missense_Mutation_p.A219V|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Missense_Mutation_p.A358V|CERKL_ENST00000409440.3_Missense_Mutation_p.A314V	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	358	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCTGCCAGAGCCAAAGTTCT	0.473000													25	41					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80828222	80828222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:80828222C>T	ENST00000355528.4	+	14	1571	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	TBCD_ENST00000539345.2_Nonsense_Mutation_p.Q481*|TBCD_ENST00000397466.2_Nonsense_Mutation_p.Q95*	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	481					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTATGAGCCTCAGGAGCTGAA	0.647000													13	27					0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77679372	77679372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr18:77679372C>T	ENST00000397778.2	-	5	602	c.420G>A	c.(418-420)tgG>tgA	p.W140*	PQLC1_ENST00000409073.1_Nonsense_Mutation_p.W57*|PQLC1_ENST00000357575.4_Nonsense_Mutation_p.W122*|PQLC1_ENST00000590381.1_Intron	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	140						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		AGAAGCTGCTCCACTGCCAGA	0.617000													12	11					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19048469	19048469	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:19048469C>T	ENST00000545799.1	-	6	817		c.e6-1		DGCR2_ENST00000473832.1_Intron|DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2						cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					ACACCCCAATCTGGAACATAT	0.433000													6	41					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67290819	67290819	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:67290819C>A	ENST00000392676.3	-	11	1536	c.1472G>T	c.(1471-1473)gGt>gTt	p.G491V	ABCA5_ENST00000392677.2_Missense_Mutation_p.G491V|ABCA5_ENST00000588877.1_Missense_Mutation_p.G491V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	491	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CACATTTTCACCCTTCTTTCT	0.289000													23	65					2.41591e-17	2.53191e-17	1	1	0
PIK3CD	5293	broad.mit.edu	37	1	9786989	9786989	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:9786989C>T	ENST00000536656.1	+	24	3300	c.3092C>T	c.(3091-3093)aCa>aTa	p.T1031I	PIK3CD_ENST00000361110.2_Missense_Mutation_p.T1031I|PIK3CD_ENST00000377346.4_Missense_Mutation_p.T1007I			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	1007	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGGAAAACAGAGGAGGAG	0.567000													7	16					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122679998	122679998	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:122679998G>A	ENST00000195173.4	-	2	416	c.113C>T	c.(112-114)tCa>tTa	p.S38L	SEMA5B_ENST00000357599.3_Missense_Mutation_p.S38L|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S92L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	38					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCTGACCAGTGAGAGAAGCCA	0.627000													10	10					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99019343	99019343	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:99019343C>T	ENST00000254898.5	+	9	1569	c.1338C>T	c.(1336-1338)caC>caT	p.H446H	MATN2_ENST00000524308.1_Silent_p.H405H|MATN2_ENST00000521689.1_Silent_p.H446H|MATN2_ENST00000520016.1_Silent_p.H446H|MATN2_ENST00000522025.2_Silent_p.H162H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	446	EGF-like 6.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GAGTGGACCACTGTGCACAGC	0.537000													19	8					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461441	5461441	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:5461441C>T	ENST00000296564.7	+	13	2216	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	665										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAGTATTCTCTACTGAACCG	0.398000													20	38					0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63282982	63282982	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:63282982C>T	ENST00000282549.2	+	5	872	c.596C>T	c.(595-597)gCg>gTg	p.A199V	OTX1_ENST00000366671.3_Missense_Mutation_p.A199V	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	199						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCATTGGCCGCGCCTAGCAAC	0.677000													11	15					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72290516	72290516	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:72290516G>C	ENST00000550746.1	+	10	1159	c.1095G>C	c.(1093-1095)tgG>tgC	p.W365C	TBC1D15_ENST00000319106.8_Missense_Mutation_p.W356C|TBC1D15_ENST00000393309.3_Missense_Mutation_p.W119C|TBC1D15_ENST00000485960.2_Missense_Mutation_p.W348C	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	365	Rab-GAP TBC.						protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATTTTCCCTGGGACAGTACCA	0.353000													18	28					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223725	35223725	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:35223725G>C	ENST00000338513.1	+	2	967	c.794G>C	c.(793-795)cGa>cCa	p.R265P		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	265					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GACCGCCCCCGAGACCATGTG	0.567000													15	17					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200619716	200619716	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:200619716G>A	ENST00000447706.2	-	5	1302	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	DDX59_ENST00000367348.3_Missense_Mutation_p.S384L|DDX59_ENST00000331314.6_Missense_Mutation_p.S384L			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	384	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AATTGTGGCTGAAACCAAAAT	0.378000													45	43					0	0	1	0	0
DERA	51071	broad.mit.edu	37	12	16109916	16109916	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:16109916G>A	ENST00000428559.2	+	2	290	c.78G>A	c.(76-78)ctG>ctA	p.L26L	DERA_ENST00000526530.1_5'UTR|DERA_ENST00000532964.1_Silent_p.L26L	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	26					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				CGGCAGTTCTGAGGCGTGCGG	0.428000													13	23					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186038187	186038187	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:186038187G>C	ENST00000265022.3	-	2	601	c.62C>G	c.(61-63)tCa>tGa	p.S21*	DGKG_ENST00000544847.1_Nonsense_Mutation_p.S21*|DGKG_ENST00000344484.4_Nonsense_Mutation_p.S21*|DGKG_ENST00000382164.4_Nonsense_Mutation_p.S21*	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	21					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CTCACATTCTGAATATTTCTG	0.438000													8	65					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117888122	117888122	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:117888122C>T	ENST00000535237.1	-	8	1382	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	GOPC_ENST00000052569.6_Missense_Mutation_p.D377N|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.D385N|DCBLD1_ENST00000296955.8_Intron					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CCACTCTCATCTTCATACTCT	0.398000			O	ROS1	glioblastoma								36	9					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19259641	19259641	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:19259641C>G	ENST00000527884.1	-	3	286	c.54G>C	c.(52-54)atG>atC	p.M18I	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.M18I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	18					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGTGTTTTCATTAGTCCCC	0.408000													25	39					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905561	23905561	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:23905561C>T	ENST00000382298.3	-	10	13042	c.12454G>A	c.(12454-12456)Gaa>Aaa	p.E4152K	SACS_ENST00000382292.3_Missense_Mutation_p.E4152K|SACS_ENST00000402364.1_Missense_Mutation_p.E3402K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4152					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTGGAAGTTCCAGTTTTGAT	0.398000													54	81					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946973	150946973	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:150946973A>C	ENST00000261800.5	-	1	1532	c.1520T>G	c.(1519-1521)aTt>aGt	p.I507S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	507	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTAGGGGTCAATAGAAAATGG	0.483000													15	34					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109869774	109869774	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:109869774C>T	ENST00000256637.6	-	13	1541	c.1483G>A	c.(1483-1485)Ggg>Agg	p.G495R	SORT1_ENST00000538502.1_Missense_Mutation_p.G358R	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	495					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATGGCATCCCCCACGCTACCT	0.433000													17	27					0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77600252	77600252	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:77600252A>G	ENST00000319374.4	-	3	768	c.566T>C	c.(565-567)cTc>cCc	p.L189P	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	189						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		CCAGAGGTAGAGCATGAGGAT	0.642000													10	4					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81058274	81058274	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:81058274G>A	ENST00000334512.5	+	15	2175	c.1603G>A	c.(1603-1605)Gac>Aac	p.D535N		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	535	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCCAGCCAAGACGTCAAACC	0.622000													16	41					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190603379	190603379	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:190603379C>T	ENST00000520309.1	+	19	3759	c.3671C>T	c.(3670-3672)tCa>tTa	p.S1224L	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.S1224L|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1153L	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1224						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGTCTGTATTCAGTTCAGACT	0.308000													23	29					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099894	110099894	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:110099894G>A	ENST00000518632.1	+	2	504	c.153G>A	c.(151-153)atG>atA	p.M51I	TRHR_ENST00000311762.2_Missense_Mutation_p.M51I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	51						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGGTTGTCATGAGAACCAAGC	0.522000													65	52					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284215	223284215	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:223284215C>G	ENST00000540964.1	-	4	2620	c.2159G>C	c.(2158-2160)aGt>aCt	p.S720T	TLR5_ENST00000342210.6_Missense_Mutation_p.S720T			O60602	TLR5_HUMAN	toll-like receptor 5	720	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GTTTTGGTCACTGTATTGAGT	0.433000													5	49					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31663807	31663807	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:31663807A>T	ENST00000331728.4	+	10	1288	c.1174A>T	c.(1174-1176)Att>Ttt	p.I392F	LIMK2_ENST00000444929.2_Missense_Mutation_p.I146F|LIMK2_ENST00000406516.1_Missense_Mutation_p.I314F|LIMK2_ENST00000333611.4_Missense_Mutation_p.I371F|LIMK2_ENST00000340552.4_Missense_Mutation_p.I371F	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	392	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCTCAAGTTCATTGGTGTGCT	0.532000													11	34					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21938310	21938310	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:21938310C>T	ENST00000542643.2	-	13	915		c.e13-1		RAP1GAP_ENST00000374763.2_Splice_Site|RAP1GAP_ENST00000374761.2_Splice_Site|RAP1GAP_ENST00000290101.4_Splice_Site|RAP1GAP_ENST00000374765.4_Splice_Site	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein						regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTCGGAGGTCTGGGGATGAG	0.567000													31	49					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36299683	36299683	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:36299683A>G	ENST00000373210.3	+	12	1717	c.1472A>G	c.(1471-1473)gAc>gGc	p.D491G		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		CAAGGTGCAGACAGTGTGGAG	0.453000													47	43					0	0	1	0	0
SPIN3	169981	broad.mit.edu	37	X	57020847	57020847	+	Silent	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:57020847T>C	ENST00000374919.3	-	2	856	c.534A>G	c.(532-534)ttA>ttG	p.L178L		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	178					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATAATCATCTAAGAGCTGGT	0.448000													25	2					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115117407	115117407	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:115117407C>T	ENST00000349155.2	-	3	1670	c.707G>A	c.(706-708)aGa>aAa	p.R236K	TBX3_ENST00000257566.3_Missense_Mutation_p.R256K	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	256					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GTCATTGGCTCTTACAATGTG	0.433000													46	67					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391084	23391084	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:23391084C>G	ENST00000258729.3	-	6	879	c.523G>C	c.(523-525)Ggg>Cgg	p.G175R	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	175					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						CCCCTCTGCCCAAGCCCCCGG	0.557000													11	45					0	0	1	0	0
PAIP2B	400961	broad.mit.edu	37	2	71417133	71417133	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:71417133C>T	ENST00000244221.8	-	3	323	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	53					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						AAGTCTTGCTCCTGCAGTTCC	0.522000													3	6					0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58928216	58928216	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:58928216G>A	ENST00000306910.4	+	4	854	c.331G>A	c.(331-333)Gag>Aag	p.E111K	ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000593920.1_Missense_Mutation_p.E66K|ZNF584_ENST00000599238.1_3'UTR|ZNF584_ENST00000322834.7_Silent_p.L143L	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		AGCCCATCCTGAGCATCTAAA	0.493000													7	18					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65787672	65787672	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:65787672C>T	ENST00000312106.5	-	9	2202		c.e9-1			NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1						cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGCGGCCCTCTGGGAAGAAG	0.662000													17	27					0	0	1	0	0
PYCR2	29920	broad.mit.edu	37	1	226109033	226109033	+	Silent	SNP	T	T	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:226109033T>A	ENST00000343818.6	-	6	820	c.672A>T	c.(670-672)ccA>ccT	p.P224P	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Silent_p.P150P	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	224					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	TAAGCTGGCATGGATGCTGCT	0.577000													6	31					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138874152	138874152	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr7:138874152G>T	ENST00000464848.1	+	18	1719	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	TTC26_ENST00000343187.4_Missense_Mutation_p.A516S|TTC26_ENST00000478836.2_Missense_Mutation_p.A440S|TTC26_ENST00000495038.1_Missense_Mutation_p.A416S|TTC26_ENST00000430935.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	547							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GAAGAAATGGGCCAAAGAAAA	0.418000													88	20					7.43734e-37	7.88914e-37	1	1	0
BLOC1S2	282991	broad.mit.edu	37	10	102045947	102045947	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:102045947C>T	ENST00000370372.2	-	2	131	c.79G>A	c.(79-81)Gag>Aag	p.E27K	BLOC1S2_ENST00000441611.1_5'UTR|BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	27					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		TTTGCTTCCTCAGCTGTCTCC	0.582000													14	24					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180034342	180034342	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:180034342C>T	ENST00000367607.3	+	27	5920	c.5502C>T	c.(5500-5502)atC>atT	p.I1834I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1834						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CCATTTCAATCTCCAGCAGTG	0.398000													36	31					0	0	1	0	0
RABGGTB	5876	broad.mit.edu	37	1	76257181	76257181	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:76257181C>T	ENST00000319942.3	+	6	575	c.504C>T	c.(502-504)atC>atT	p.I168I	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	168					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						AAAAGGCAATCGAATTTGTTT	0.368000													23	47					0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28214921	28214921	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr21:28214921C>T	ENST00000284984.3	-	2	1268	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCGTGGAATTCTGCCATCGAC	0.458000													33	53					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61070177	61070177	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:61070177G>A	ENST00000301764.7	-	24	3386	c.2989C>T	c.(2989-2991)Ctt>Ttt	p.L997F	DDB1_ENST00000538470.1_Missense_Mutation_p.L44F|DDB1_ENST00000451943.2_5'UTR|DDB1_ENST00000450997.2_Missense_Mutation_p.L308F	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	997	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGTGGAAAAGACCAACCTCC	0.562000								Nucleotide excision repair (NER)					33	49					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123047189	123047189	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:123047189T>G	ENST00000333479.7	+	20	1724	c.1547T>G	c.(1546-1548)cTa>cGa	p.L516R	KNTC1_ENST00000450485.2_Missense_Mutation_p.L479R	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	516					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CTTCAGGTGCTAAGAGCTCAT	0.289000													6	5					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018372	19018372	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:19018372G>A	ENST00000420770.2	+	5	794	c.711G>A	c.(709-711)gaG>gaA	p.E237E	PAX7_ENST00000375375.3_Silent_p.E237E|PAX7_ENST00000400661.3_Silent_p.E235E	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	237					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		AGGCCTTTGAGAGGACCCACT	0.627000			T	FOXO1A	alveolar rhabdomyosarcoma								11	16					0	0	1	0	0
FAM163A	148753	broad.mit.edu	37	1	179782953	179782953	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:179782953G>A	ENST00000341785.4	+	5	529	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	45						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GGTTGCAGACGAGGAGGAGGA	0.642000													18	25					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1586981	1586981	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:1586981C>T	ENST00000397374.3	-	2	203	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	DUSP8_ENST00000331588.4_Missense_Mutation_p.G26R	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	26	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		ACCAGCGGCCCCCCAGGCCCG	0.667000													42	56					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8157555	8157555	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:8157555G>A	ENST00000314666.6	+	3	347	c.214G>A	c.(214-216)Gat>Aat	p.D72N	PFAS_ENST00000545834.1_De_novo_Start_InFrame	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	72					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTGCTGGATGATGTTGCTCG	0.587000													27	49					0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19126308	19126308	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:19126308C>T	ENST00000276914.2	-	3	210		c.e3-1		PLIN2_ENST00000380464.3_Splice_Site|PLIN2_ENST00000411567.1_Splice_Site|PLIN2_ENST00000380465.3_Splice_Site	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2						cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCACCACACTCTGCAATCAAA	0.463000													32	33					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6333548	6333548	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:6333548G>A	ENST00000301452.4	-	1	92	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	5						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						TCTGATAGGCGAAGATGCTAG	0.617000													5	6					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779143	64779143	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:64779143C>T	ENST00000422803.1	+	2	849	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	AFTPH_ENST00000409933.1_Silent_p.L179L|AFTPH_ENST00000238855.7_Silent_p.L179L|AFTPH_ENST00000238856.4_Silent_p.L179L			Q6ULP2	AFTIN_HUMAN	aftiphilin	179					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GCCTCCTTGTCTGGAGATTCT	0.408000													29	41					0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53730719	53730719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:53730719C>T	ENST00000248706.3	+	3	492	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	92	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TCCAGGTATTCAGGTGAGAAG	0.433000													60	90					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204412719	204412719	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:204412719C>T	ENST00000367187.3	-	20	3430	c.2874G>A	c.(2872-2874)ctG>ctA	p.L958L	PIK3C2B_ENST00000424712.2_Silent_p.L930L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	958					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCCGTCCTTCAGTAACCTGC	0.572000													138	67					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42392829	42392829	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:42392829G>A	ENST00000599846.1	+	4	243	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E55K|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E40K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E40K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E55K|ARHGEF1_ENST00000596957.1_Intron			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	40					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCAGAACTCAGAAGAGCAAAA	0.607000													12	17					0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27851919	27851919	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:27851919G>A	ENST00000264718.3	+	1	57	c.36G>A	c.(34-36)agG>agA	p.R12R	ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000424214.1_Intron|GPN1_ENST00000515877.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Intron|GPN1_ENST00000503738.1_Intron|GPN1_ENST00000610189.1_5'UTR|GPN1_ENST00000458167.2_Intron			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	0						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GTGGGGCCAGGAGGAAGATGG	0.627000													21	50					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65009353	65009353	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:65009353G>A	ENST00000247207.6	+	1	2168	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K	HSPA2_ENST00000394709.1_Missense_Mutation_p.E596K	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	596					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AGATGAGTATGAACACAAGCA	0.537000													19	9					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73952217	73952217	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:73952217G>A	ENST00000423730.3	-	2	459	c.24C>T	c.(22-24)ctC>ctT	p.L8L	KHDC1_ENST00000257765.5_Silent_p.L8L|KHDC1_ENST00000370384.3_Silent_p.L81L																							GCTTCTTGCTGAGAGCACTCG	0.527000													35	49					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79479350	79479350	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:79479350C>T	ENST00000575842.1	-	1	457	c.31G>A	c.(31-33)Gac>Aac	p.D11N	ACTG1_ENST00000573283.1_Missense_Mutation_p.D11N|ACTG1_ENST00000331925.2_Missense_Mutation_p.D11N|ACTG1_ENST00000575087.1_Missense_Mutation_p.D11N			P63261	ACTG_HUMAN	actin, gamma 1	11					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GAGCCATTGTCAATGACCAGC	0.632000													32	39					0	0	1	0	0
RGS17	26575	broad.mit.edu	37	6	153365047	153365047	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:153365047C>T	ENST00000367225.2	-	1	131	c.107G>A	c.(106-108)tGc>tAc	p.C36Y	RGS17_ENST00000206262.1_Missense_Mutation_p.C36Y			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	36	Poly-Cys.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		GGAGCAGCTGCAACAACAGCA	0.502000													50	24					0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41517240	41517240	+	Silent	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr13:41517240G>A	ENST00000239882.3	-	7	968	c.654C>T	c.(652-654)ctC>ctT	p.L218L	ELF1_ENST00000442101.1_Silent_p.L194L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	218					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CCTTGTCCTGGAGCAGTGCCA	0.378000													27	62					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47567865	47567865	+	Silent	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:47567865C>T	ENST00000371917.4	+	4	282	c.282C>T	c.(280-282)ctC>ctT	p.L94L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	94					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTTAGAAACTCATCGCATACG	0.507000													30	6					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129128527	129128527	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:129128527T>C	ENST00000326639.6	+	19	2747	c.2536T>C	c.(2536-2538)Ttc>Ctc	p.F846L	LARP1B_ENST00000354456.3_Missense_Mutation_p.F265L|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.F787L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	846							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTTAGAAGACTTCCGTGTTGA	0.299000													29	91					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17830013	17830013	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:17830013G>A	ENST00000325083.8	+	23	4199	c.3760G>A	c.(3760-3762)Gat>Aat	p.D1254N	PCM1_ENST00000519253.1_Missense_Mutation_p.D1254N|PCM1_ENST00000524226.1_Missense_Mutation_p.D1255N	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1254					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ACGCCAGTTTGATGAAGAATC	0.393000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								38	8					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419755	40419755	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:40419755C>T	ENST00000221347.6	-	6	3246	c.3239G>A	c.(3238-3240)aGc>aAc	p.S1080N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1080	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCCAGCTTGCTATGGCACTC	0.642000													39	44					0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681751	40681751	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:40681751G>A	ENST00000302472.3	+	2	1680	c.656G>A	c.(655-657)cGc>cAc	p.R219H	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	219					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CAGTTCATGCGCCGCACCTCG	0.711000													4	14					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19751747	19751747	+	Missense_Mutation	SNP	C	C	G	rs74315522		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:19751747C>G	ENST00000332710.4	+	5	711	c.582C>G	c.(580-582)caC>caG	p.H194Q	TBX1_ENST00000329705.7_Missense_Mutation_p.H194Q|TBX1_ENST00000359500.3_Missense_Mutation_p.H194Q	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	194			H -> Q (in VCFS).		embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCCGCGTGCACTACCACCCGG	0.657000													23	138					0	0	1	0	0
IPO9	55705	broad.mit.edu	37	1	201843449	201843449	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:201843449G>A	ENST00000361565.4	+	21	2851	c.2782G>A	c.(2782-2784)Gtc>Atc	p.V928I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	928					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCTCTCCAACGTCATGGAGGC	0.522000													21	60					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													5	8	---	---	---	---					
LRP2	4036	broad.mit.edu	37	2	170131578	170131598	+	In_Frame_Del	DEL	ACTCCATAGGGCCTCAGGGAA	ACTCCATAGGGCCTCAGGGAA	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr2:170131578_170131598delACTCCATAGGGCCTCAGGGAA	ENST00000263816.3	-	14	2208_2228	c.1923_1943delTTCCCTGAGGCCCTATGGAGT	c.(1921-1944)gcttccctgaggccctatggagtg>gcg	p.SLRPYGV642del	LRP2_ENST00000443831.1_In_Frame_Del_p.SLRPYGV573del	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	642					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTAAACAGTCACTCCATAGGGCCTCAGGGAAGCCTGGTAGT	0.489													9	24	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	3	---	---	---	---					
LIMD1	8994	broad.mit.edu	37	3	45636612	45636621	+	Frame_Shift_Del	DEL	GGGGGCCGCC	GGGGGCCGCC	-	rs150607404		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:45636612_45636621delGGGGGCCGCC	ENST00000273317.4	+	1	262_271	c.241_250delGGGGGCCGCC	c.(241-252)gggggccgcctgfs	p.GGRL81fs	LIMD1_ENST00000440097.1_Frame_Shift_Del_p.GGRL81fs|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	81	Mediates nuclear export.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TGTCAATGGAGGGGGCCGCCTGGGCCCACA	0.648													13	8	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195717077	195717078	+	RNA	INS	-	-	GCGCCAG	rs55821214		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr3:195717077_195717078insGCGCCAG	ENST00000427841.1	-	0	72_73					NR_003264.2																						GGCCAGCGCCAGCGCCAGGCGC	0.782													2	4	---	---	---	---					
ARSJ	79642	broad.mit.edu	37	4	114824296	114824305	+	Frame_Shift_Del	DEL	TTAGAGCCAA	TTAGAGCCAA	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr4:114824296_114824305delTTAGAGCCAA	ENST00000315366.7	-	2	1791_1800	c.925_934delTTGGCTCTAA	c.(925-936)ttggctctaaagfs	p.LALK309fs	ARSJ_ENST00000541197.1_Frame_Shift_Del_p.LALK309fs	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	309						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CCATAAGTCTTTAGAGCCAATGTCACGTTG	0.438													13	80	---	---	---	---					
KCTD16	57528	broad.mit.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr5:143853531delA	ENST00000507359.3	+	3	2232	c.1141delA	c.(1141-1143)aaafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468													7	71	---	---	---	---					
NEDD9	4739	broad.mit.edu	37	6	11232730	11232761	+	Translation_Start_Site	DEL	CTCTTACCTTATACTTCATTTCGGCAGCGGTG	CTCTTACCTTATACTTCATTTCGGCAGCGGTG	-	rs146380073	by1000genomes	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:11232730_11232761delCTCTTACCTTATACTTCATTTCGGCAGCGGTG	ENST00000379446.5	-	0	154_179				RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Start_Codon_Del|NEDD9_ENST00000504387.1_Intron	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9						actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			AAAAGGCACTCTCTTACCTTATACTTCATTTCGGCAGCGGTGGGTTGAGCCG	0.534													7	11	---	---	---	---					
HLA-DRB5	3127	broad.mit.edu	37	6	32497922	32497922	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:32497922delG	ENST00000374975.3	-	1	142	c.80delC	c.(79-81)gctfs	p.A27fs		NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR beta 5	27					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCCAGCCAAAGCCAGTGGGGA	0.552													9	172	---	---	---	---					
KIF6	221458	broad.mit.edu	37	6	39330233	39330234	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:39330233_39330234insG	ENST00000287152.7	-	17	2016_2017	c.1922_1923insC	c.(1921-1923)tcafs	p.S641fs	KIF6_ENST00000541946.1_Frame_Shift_Ins_p.S92fs|KIF6_ENST00000373215.3_Frame_Shift_Ins_p.S624fs|KIF6_ENST00000538893.1_Frame_Shift_Ins_p.S585fs|KIF6_ENST00000373213.4_Frame_Shift_Ins_p.S480fs|KIF6_ENST00000394362.1_Frame_Shift_Ins_p.S92fs|KIF6_ENST00000229913.5_Frame_Shift_Ins_p.S92fs|KIF6_ENST00000373216.3_Frame_Shift_Ins_p.S641fs	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	641					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCTCCAGTTGTGATCGCAGCTT	0.564											OREG0017415	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	65	---	---	---	---					
FILIP1	27145	broad.mit.edu	37	6	76072544	76072544	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:76072544delT	ENST00000393004.2	-	3	587	c.366delA	c.(364-366)aaafs	p.K122fs	RP11-415D17.3_ENST00000415457.2_RNA|FILIP1_ENST00000237172.7_Frame_Shift_Del_p.K122fs|RP11-415D17.3_ENST00000588761.1_RNA|FILIP1_ENST00000370020.1_Frame_Shift_Del_p.K23fs|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000591821.2_RNA			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	122										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCCGCAGCACTTTCTCTGGCT	0.488													53	62	---	---	---	---					
PBOV1	59351	broad.mit.edu	37	6	138539254	138539262	+	In_Frame_Del	DEL	GGAACCTTT	GGAACCTTT	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr6:138539254_138539262delGGAACCTTT	ENST00000527246.2	-	1	365_373	c.271_279delAAAGGTTCC	c.(271-279)aaaggttccdel	p.KGS91del	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	91						cytoplasm|nucleus				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		ATTTCATTGAGGAACCTTTCATGGTCAAG	0.383													24	15	---	---	---	---					
ZBTB10	65986	broad.mit.edu	37	8	81411808	81411828	+	In_Frame_Del	DEL	TGCGACAACTAAATGAACAGA	TGCGACAACTAAATGAACAGA	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr8:81411808_81411828delTGCGACAACTAAATGAACAGA	ENST00000430430.1	+	3	1831_1851	c.1052_1072delTGCGACAACTAAATGAACAGA	c.(1051-1074)ctgcgacaactaaatgaacagaga>cga	p.LRQLNEQ351del	ZBTB10_ENST00000455036.3_In_Frame_Del_p.LRQLNEQ351del|ZBTB10_ENST00000426744.2_In_Frame_Del_p.LRQLNEQ351del|ZBTB10_ENST00000379091.4_In_Frame_Del_p.LRQLNEQ59del	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	351					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TATCAACTTCTGCGACAACTAAATGAACAGAGAAAGAAAGG	0.389													25	41	---	---	---	---					
BARHL1	56751	broad.mit.edu	37	9	135458576	135458593	+	In_Frame_Del	DEL	CCAAGGCCGCGGAGGACT	CCAAGGCCGCGGAGGACT	-	rs149116109		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr9:135458576_135458593delCCAAGGCCGCGGAGGACT	ENST00000263610.2	+	1	1005_1022	c.392_409delCCAAGGCCGCGGAGGACT	c.(391-411)gccaaggccgcggaggacttt>gtt	p.131_137AKAAEDF>V	BARHL1_ENST00000542090.1_In_Frame_Del_p.131_137AKAAEDF>V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	131						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CGCCTTGCGGCCAAGGCCGCGGAGGACTTTAGAGACAA	0.592													8	16	---	---	---	---					
FAM208B	54906	broad.mit.edu	37	10	5791921	5791941	+	In_Frame_Del	DEL	GGCTTGTAAAAGTACCTTCCT	GGCTTGTAAAAGTACCTTCCT	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:5791921_5791941delGGCTTGTAAAAGTACCTTCCT	ENST00000328090.5	+	15	7162_7182	c.6537_6557delGGCTTGTAAAAGTACCTTCCT	c.(6535-6558)gaggcttgtaaaagtaccttcctg>gag	p.ACKSTFL2180del		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2180																	TTGTGAAAGAGGCTTGTAAAAGTACCTTCCTGTTCTACCTT	0.394													7	31	---	---	---	---					
CUZD1	50624	broad.mit.edu	37	10	124591816	124591816	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr10:124591816delT	ENST00000368904.1	-	11	2751	c.1802delA	c.(1801-1803)tacfs	p.Y601fs	CUZD1_ENST00000545804.1_Frame_Shift_Del_p.Y601fs|CUZD1_ENST00000392790.1_Frame_Shift_Del_p.Y601fs			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	601					cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTTCTGGTATTTGTAGTC	0.433													78	145	---	---	---	---					
SNX19	399979	broad.mit.edu	37	11	130785632	130785647	+	Frame_Shift_Del	DEL	CTGGAGCCCAGCCATC	CTGGAGCCCAGCCATC	-	rs142603765		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr11:130785632_130785647delCTGGAGCCCAGCCATC	ENST00000265909.4	-	1	757_772	c.188_203delGATGGCTGGGCTCCAG	c.(187-204)ggatggctgggctccagcfs	p.GWLGSS63fs	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Frame_Shift_Del_p.GWLGSS63fs|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	63					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCAGCGAGGCTGGAGCCCAGCCATCCTCCCAGCAC	0.611													16	20	---	---	---	---					
FAM86FP	653113	broad.mit.edu	37	12	8387934	8387934	+	RNA	DEL	G	G	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:8387934delG	ENST00000427893.2	-	0	659																											CTGTCACCCTGGGGCTGTCTA	0.587													9	32	---	---	---	---					
NR2C1	7181	broad.mit.edu	37	12	95451519	95451522	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs140215312		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr12:95451519_95451522delCTAT	ENST00000333003.5	-	6	1007_1010	c.677_680delATAG	c.(676-681)gatagtfs	p.DS226fs	NR2C1_ENST00000393101.3_Frame_Shift_Del_p.DS226fs|NR2C1_ENST00000330677.7_Frame_Shift_Del_p.DS226fs|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	226					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTACTTTCACTATCTGTTACAAA	0.387													13	84	---	---	---	---					
PNN	5411	broad.mit.edu	37	14	39650683	39650700	+	In_Frame_Del	DEL	CAGCAGTGGAAGTAGTTC	CAGCAGTGGAAGTAGTTC	-	rs56343145		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:39650683_39650700delCAGCAGTGGAAGTAGTTC	ENST00000216832.4	+	9	1837_1854	c.1770_1787delCAGCAGTGGAAGTAGTTC	c.(1768-1788)agcagcagtggaagtagttcc>agc	p.590_596SSSGSSS>S	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	590	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		caaccagtagcagcagtggaagtagttccagcagtgga	0.468													5	6	---	---	---	---					
RP11-305B6.3	0	broad.mit.edu	37	14	44589778	44589779	+	RNA	INS	-	-	T			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:44589778_44589779insT	ENST00000553827.1	-	0	69																											TGAGACGTTGATTTGCAATCTC	0.376													17	3	---	---	---	---					
NUMB	8650	broad.mit.edu	37	14	73753964	73753984	+	In_Frame_Del	DEL	TGCTTGCGCTCTAAACAGGCT	TGCTTGCGCTCTAAACAGGCT	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr14:73753964_73753984delTGCTTGCGCTCTAAACAGGCT	ENST00000556772.1	-	3	2344_2364	c.57_77delAGCCTGTTTAGAGCGCAAGCA	c.(55-78)gcagcctgtttagagcgcaagcag>gcg	p.ACLERKQ20del	NUMB_ENST00000535282.1_In_Frame_Del_p.ACLERKQ153del|NUMB_ENST00000359560.3_In_Frame_Del_p.ACLERKQ153del|NUMB_ENST00000454166.4_In_Frame_Del_p.ACLERKQ164del|NUMB_ENST00000554546.1_In_Frame_Del_p.ACLERKQ153del|NUMB_ENST00000559312.1_In_Frame_Del_p.ACLERKQ164del|NUMB_ENST00000560335.1_In_Frame_Del_p.ACLERKQ164del|NUMB_ENST00000557597.1_In_Frame_Del_p.ACLERKQ153del|NUMB_ENST00000554521.2_In_Frame_Del_p.ACLERKQ153del|NUMB_ENST00000555738.2_In_Frame_Del_p.ACLERKQ153del|NUMB_ENST00000555394.1_In_Frame_Del_p.ACLERKQ164del|NUMB_ENST00000355058.3_In_Frame_Del_p.ACLERKQ164del|NUMB_ENST00000555238.1_In_Frame_Del_p.ACLERKQ164del|NUMB_ENST00000356296.4_In_Frame_Del_p.ACLERKQ164del|NUMB_ENST00000544991.3_In_Frame_Del_p.ACLERKQ164del			P49757	NUMB_HUMAN	numb homolog (Drosophila)	164					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CTCCCGCTTCTGCTTGCGCTCTAAACAGGCTGCAAAAGCAC	0.430													11	5	---	---	---	---					
HCN4	10021	broad.mit.edu	37	15	73615517	73615518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:73615517_73615518insG	ENST00000261917.3	-	8	3909_3910	c.2916_2917insC	c.(2914-2919)cccgggfs	p.G973fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	973	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCCAGCTGCCCGGGGCTAGATG	0.728													2	4	---	---	---	---					
KIAA1199	57214	broad.mit.edu	37	15	81199051	81199060	+	Frame_Shift_Del	DEL	ATGCGGGCGG	ATGCGGGCGG	-	rs143461686	by1000genomes	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr15:81199051_81199060delATGCGGGCGG	ENST00000394685.3	+	13	1878_1887	c.1459_1468delATGCGGGCGG	c.(1459-1470)atgcgggcggagfs	p.MRAE487fs	KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.MRAE487fs|RP11-351M8.1_ENST00000560560.1_Intron|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.MRAE487fs			Q8WUJ3	K1199_HUMAN	KIAA1199	487								p.R488W(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CGGCGTGGACATGCGGGCGGAGGTTGGGCT	0.533													16	28	---	---	---	---					
DNAH9	1770	broad.mit.edu	37	17	11660903	11660913	+	Frame_Shift_Del	DEL	CCAGTGAGCAG	CCAGTGAGCAG	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:11660903_11660913delCCAGTGAGCAG	ENST00000262442.4	+	35	6957_6967	c.6889_6899delCCAGTGAGCAG	c.(6889-6900)ccagtgagcagcfs	p.PVSS2297fs	DNAH9_ENST00000454412.2_Frame_Shift_Del_p.PVSS2297fs	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGAACCCTCCAGTGAGCAGCTGGATTGAG	0.441													11	48	---	---	---	---					
STAT3	6774	broad.mit.edu	37	17	40498586	40498587	+	Splice_Site	INS	-	-	CTGCT			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:40498586_40498587insCTGCT	ENST00000264657.5	-	3	585_586		c.e3+1		STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000389272.3_Splice_Site|STAT3_ENST00000404395.3_Splice_Site|STAT3_ENST00000588969.1_Splice_Site	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)						cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCTCATCATACCTGAAGAAACT	0.450									Hyperimmunoglobulin E Recurrent Infection Syndrome				13	340	---	---	---	---					
MAP3K14	9020	broad.mit.edu	37	17	43342683	43342696	+	RNA	DEL	ACCAGGGTCCTGGC	ACCAGGGTCCTGGC	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:43342683_43342696delACCAGGGTCCTGGC	ENST00000344686.2	-	0	2684				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCCCCAAGGACCAGGGTCCTGGCAGGGGCTGGG	0.533													10	17	---	---	---	---					
MRPS7	51081	broad.mit.edu	37	17	73258495	73258506	+	In_Frame_Del	DEL	TGGCAGTCATGC	TGGCAGTCATGC	-	rs62623397	by1000genomes	TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr17:73258495_73258506delTGGCAGTCATGC	ENST00000579002.1	+	1	503_514	c.88_99delTGGCAGTCATGC	c.(88-99)tggcagtcatgcdel	p.WQSC30del	MRPS7_ENST00000245539.6_Intron|MRPS7_ENST00000579761.1_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	0					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			GTCGGCGCGTTGGCAGTCATGCCTATTGTTAA	0.585													60	61	---	---	---	---					
MCOLN1	57192	broad.mit.edu	37	19	7595317	7595340	+	In_Frame_Del	DEL	TCAGCCTCTTCATCTACATGGTGC	TCAGCCTCTTCATCTACATGGTGC	-	rs142388236		TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr19:7595317_7595340delTCAGCCTCTTCATCTACATGGTGC	ENST00000264079.6	+	12	1630_1653	c.1505_1528delTCAGCCTCTTCATCTACATGGTGC	c.(1504-1530)atcagcctcttcatctacatggtgctc>atc	p.SLFIYMVL503del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	503					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACTCCTTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTT	0.612													12	197	---	---	---	---					
SLC9A8	23315	broad.mit.edu	37	20	48494562	48494563	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr20:48494562_48494563delCC	ENST00000417961.1	+	12	1378_1379	c.1168_1169delCC	c.(1168-1170)cctfs	p.P390fs	SLC9A8_ENST00000541138.1_Frame_Shift_Del_p.P74fs|SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.P374fs|SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.P155fs	NM_001260491.1|NM_015266.2	NP_001247420.1|NP_056081.1	Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	374						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTTTAGTTTTCCTCACAAGTTT	0.297													21	73	---	---	---	---					
KCNJ15	3772	broad.mit.edu	37	21	39672168	39672169	+	In_Frame_Ins	INS	-	-	AGTTTG			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr21:39672168_39672169insAGTTTG	ENST00000328656.4	+	4	1288_1289	c.985_986insAGTTTG	c.(985-987)cag>cAGTTTGag	p.331_332insFE	KCNJ15_ENST00000398930.1_In_Frame_Ins_p.331_332insFE|KCNJ15_ENST00000398938.2_In_Frame_Ins_p.331_332insFE|KCNJ15_ENST00000398932.1_In_Frame_Ins_p.331_332insFE|KCNJ15_ENST00000398934.1_In_Frame_Ins_p.331_332insFE	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TGATTTCAGTCAGTTTGAACAG	0.441													19	90	---	---	---	---					
ZDHHC8	29801	broad.mit.edu	37	22	20132897	20132902	+	In_Frame_Del	DEL	GGGACC	GGGACC	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chr22:20132897_20132902delGGGACC	ENST00000334554.7	+	11	2413_2418	c.2272_2277delGGGACC	c.(2272-2277)gggaccdel	p.GT758del	ZDHHC8_ENST00000320602.7_In_Frame_Del_p.GT666del|ZDHHC8_ENST00000405930.3_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	758						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CGGCGTGGGTGGGACCACCTACGAGA	0.699													9	84	---	---	---	---					
FAM9A	171482	broad.mit.edu	37	X	8763307	8763309	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-XF-A9T0-01A-11D-A391-08	TCGA-XF-A9T0-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf07a9f4-3d8a-4da0-a532-bb20a11a614e	bc5a846d-f1a4-4fe2-a62a-de3c445b4117	g.chrX:8763307_8763309delCTG	ENST00000543214.1	-	7	776_778	c.641_643delCAG	c.(640-645)gcagaa>gaa	p.A214del	FAM9A_ENST00000381003.3_In_Frame_Del_p.A214del	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	214	Glu-rich.|Poly-Ala.					nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				ACTATTACTTctgctgctgctgc	0.517													3	6	---	---	---	---