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
PLK2	10769	broad.mit.edu	37	5	57751189	57751189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:57751189C>T	ENST00000274289.3	-	12	1978	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	560	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCAGGAGCATCTGTTGCTGGG	0.408000													15	67					0	0	0.000422831	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280968	32280968	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:32280968C>T	ENST00000360482.2	-	0	96				SPOCD1_ENST00000533231.1_De_novo_Start_OutOfFrame|SPOCD1_ENST00000373648.2_De_novo_Start_OutOfFrame|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1						transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAGCACAACACGGGCCCTGTG	0.602000													11	27					0	0	0.000673444	0	0
ALLC	55821	broad.mit.edu	37	2	3726069	3726069	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:3726069G>A	ENST00000252505.3	+	4	258	c.96G>A	c.(94-96)ccG>ccA	p.P32P		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	51							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GTGACAGCCCGTGCTTCAAAG	0.488000										HNSCC(21;0.051)			7	30					0	0	8.12818e-05	0	0
ITGB1	3688	broad.mit.edu	37	10	33211200	33211200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:33211200G>C	ENST00000396033.2	-	9	1248	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	ITGB1_ENST00000302278.3_Missense_Mutation_p.I371M|ITGB1_ENST00000423113.1_Missense_Mutation_p.I371M|ITGB1_ENST00000374956.4_Missense_Mutation_p.I371M	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	371	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ATGCATCAATGATCAACTGAA	0.328000													19	79					0	0	0.000958276	0	0
MED12	9968	broad.mit.edu	37	X	70342193	70342193	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:70342193G>A	ENST00000333646.6	+	8	1444	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	MED12_ENST00000374080.3_Silent_p.Q415Q|MED12_ENST00000374102.1_Silent_p.Q415Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	415					androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTTCACTCAGCAGGTATGTC	0.483000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						17	39					0	0	0.00074312	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169470	207169470	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:207169470C>A	ENST00000374423.3	+	5	604	c.218C>A	c.(217-219)aCt>aAt	p.T73N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	73							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CATGTGAATACTGGGTCATCG	0.383000													22	39					2.21704e-12	1.62472e-11	0.000375601	1	0
THAP4	51078	broad.mit.edu	37	2	242573331	242573331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:242573331C>T	ENST00000407315.1	-	2	672	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	81							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGATGGCACGGCCGTGGGC	0.587000													36	123					0	0	0.00148497	0	0
CHSY1	22856	broad.mit.edu	37	15	101719133	101719133	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:101719133C>G	ENST00000254190.3	-	3	1344	c.869G>C	c.(868-870)aGa>aCa	p.R290T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	290					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.R290T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGGAGATCTCTAATGTACCC	0.398000													13	57					0	0	0.00185496	0	0
KMT2C	58508	broad.mit.edu	37	7	151848538	151848538	+	Missense_Mutation	SNP	G	G	A	rs139111507	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:151848538G>A	ENST00000355193.2	-	51	13044	c.12826C>T	c.(12826-12828)Ctt>Ttt	p.L4276F	KMT2C_ENST00000262189.6_Missense_Mutation_p.L4219F					lysine (K)-specific methyltransferase 2C																		TTGTTCAAAAGGGTCAGATCT	0.463000													6	20					0	0	0.00116845	0	0
IARS	3376	broad.mit.edu	37	9	95043159	95043159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:95043159G>A	ENST00000375643.3	-	7	880	c.614C>T	c.(613-615)tCa>tTa	p.S205L	IARS_ENST00000443024.2_Missense_Mutation_p.S205L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.S95L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	205					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TACAAATACTGAAGGATCTTG	0.368000													5	35					0	0	0.000602214	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377777	113377777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:113377777G>A	ENST00000316407.4	-	7	3162	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.Q918*|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	918					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATGTCTCTTGTTGTAGATTA	0.448000													33	98					0	0	0.000692331	0	0
CPSF2	53981	broad.mit.edu	37	14	92601740	92601740	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:92601740C>T	ENST00000298875.4	+	6	730	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	149					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TATCACACCTCTGCCAGCTGG	0.368000													14	57					0	0	0.000308642	0	0
FBXO38	81545	broad.mit.edu	37	5	147819261	147819261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:147819261C>G	ENST00000340253.5	+	19	3244	c.3076C>G	c.(3076-3078)Cac>Gac	p.H1026D	FBXO38_ENST00000296701.6_Missense_Mutation_p.H781D|FBXO38_ENST00000394370.3_Missense_Mutation_p.H951D|FBXO38_ENST00000513826.1_Missense_Mutation_p.H781D			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1026						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACCCCTATCACATCTGTAT	0.433000													16	88					0	0	0.00074312	0	0
OBSL1	23363	broad.mit.edu	37	2	220419305	220419305	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:220419305C>T	ENST00000404537.1	-	15	4823	c.4767G>A	c.(4765-4767)tcG>tcA	p.S1589S	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.S1497S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1589					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGTGGCCGTCCGAGTGGATGT	0.642000													7	20					0	0	0.000157383	0	0
GPR45	11250	broad.mit.edu	37	2	105858505	105858505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:105858505G>T	ENST00000258456.1	+	1	306	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	64						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.A64T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCAGAGGCCGGCTATGCGCTC	0.617000													33	104					1.56442e-22	1.20965e-21	0.000409698	1	0
CACNG2	10369	broad.mit.edu	37	22	37098538	37098538	+	Silent	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:37098538C>A	ENST00000300105.6	-	1	1065	c.84G>T	c.(82-84)gtG>gtT	p.V28V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	28					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTCGGTTCCCACAGCTATGG	0.453000													43	146					1.22102e-19	9.29487e-19	0.000781405	1	0
EPHA3	2042	broad.mit.edu	37	3	89448630	89448630	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:89448630T>A	ENST00000452448.2	+	7	1681	c.1594T>A	c.(1594-1596)Tgt>Agt	p.C532S	EPHA3_ENST00000494014.1_Splice_Site_p.S532_splice|EPHA3_ENST00000336596.2_Splice_Site_p.S532_splice	NM_182644.2	NP_872585.1	P29320	EPHA3_HUMAN	EPH receptor A3	0						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAGTCCAGACTGTATGTATTA	0.433000										TSP Lung(6;0.00050)			16	42					0	0	0.000566183	0	0
CLEC12B	387837	broad.mit.edu	37	12	10167883	10167883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:10167883C>T	ENST00000396502.1	+	4	570	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	CLEC12B_ENST00000338896.5_Nonsense_Mutation_p.Q148*|RP11-133L14.5_ENST00000544225.1_RNA	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	148						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TAAGATGTGGCAATGGTACCA	0.388000													23	94					0	0	0.00188189	0	0
ZNF208	7757	broad.mit.edu	37	19	22156897	22156897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:22156897G>T	ENST00000397126.4	-	4	1087	c.939C>A	c.(937-939)taC>taA	p.Y313*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTTACATTTGTAGGGCTTCT	0.418000													9	48					2.17888e-05	0.000149626	0.000442599	1	0
PRKD1	5587	broad.mit.edu	37	14	30135410	30135410	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:30135410G>A	ENST00000331968.5	-	3	637	c.408C>T	c.(406-408)tcC>tcT	p.S136S	PRKD1_ENST00000415220.2_Silent_p.S136S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	136					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAGGTGGCGGAAGCTGTAA	0.403000													19	52					0	0	0.00121646	0	0
PTPRO	5800	broad.mit.edu	37	12	15742441	15742441	+	Missense_Mutation	SNP	C	C	T	rs61757814		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:15742441C>T	ENST00000281171.4	+	25	3793	c.3463C>T	c.(3463-3465)Cac>Tac	p.H1155Y	PTPRO_ENST00000542557.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000445537.2_Missense_Mutation_p.H344Y|PTPRO_ENST00000348962.2_Missense_Mutation_p.H1127Y|PTPRO_ENST00000544244.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000442921.2_Missense_Mutation_p.H344Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1155	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTCTTGCAGCACATTCGGGA	0.463000													29	77					0	0	0.000339439	0	0
TTC37	9652	broad.mit.edu	37	5	94833175	94833175	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:94833175G>T	ENST00000358746.2	-	34	3879	c.3581C>A	c.(3580-3582)gCt>gAt	p.A1194D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1194							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGACCAAAGAGCAGGGTCACC	0.373000													6	20					0.000157383	0.00106586	0.000157383	1	0
IRF2	3660	broad.mit.edu	37	4	185339790	185339790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:185339790G>A	ENST00000393593.3	-	4	467	c.260C>T	c.(259-261)tCc>tTc	p.S87F	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	87					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCAGGCAAGGAATTCATGGC	0.408000													8	36					0	0	0.000157383	0	0
GTF2I	2969	broad.mit.edu	37	7	74105332	74105332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:74105332G>A	ENST00000324896.4	+	3	516	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	GTF2I_ENST00000443166.1_Missense_Mutation_p.E43K|GTF2I_ENST00000416070.1_Missense_Mutation_p.E43K|GTF2I_ENST00000346152.4_Missense_Mutation_p.E43K|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.E43K	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	43					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GTCCAAAGCCGAAGTGGCCTG	0.408000													43	126					0	0	0.000589545	0	0
HECW2	57520	broad.mit.edu	37	2	197183717	197183717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:197183717C>T	ENST00000260983.2	-	9	2079	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	HECW2_ENST00000409111.1_Missense_Mutation_p.E277K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	633					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCTCTCCCTCAGGCCTGGTG	0.592000													13	31					0	0	0.00136819	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208447	3208447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr20:3208447C>T	ENST00000380059.3	-	20	2844	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	SLC4A11_ENST00000380056.3_Missense_Mutation_p.E888K|SLC4A11_ENST00000539553.1_Missense_Mutation_p.E872K|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	888					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCCTGTGCTCAGCGTCCATG	0.612000													11	38					0	0	0.00136819	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	6					0	0	0.000978159	0	0
DACH1	1602	broad.mit.edu	37	13	72053410	72053410	+	Silent	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:72053410T>C	ENST00000305425.4	-	8	2189	c.1767A>G	c.(1765-1767)caA>caG	p.Q589Q	DACH1_ENST00000354591.4_Silent_p.Q387Q|DACH1_ENST00000313174.7_Silent_p.Q441Q|DACH1_ENST00000359684.2_Silent_p.Q641Q	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	639					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGTTTCTCTTGAGCTCTGG	0.373000													20	86					0	0	0.00121646	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			18	44					0	0	0.00074312	0	0
ESPNP	284729	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	by1000genomes	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1																						GGAACATCACGTTGAAAGACT	0.622000													6	31					0	0	8.12818e-05	0	0
WNT3	7473	broad.mit.edu	37	17	44845801	44845801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:44845801C>T	ENST00000225512.5	-	4	1115	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	318					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGTGTTGTGGCCCCGGCCACA	0.592000													31	117					0	0	0.000692331	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													3	7					0	0	0.000602214	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963666	88963666	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:88963666G>C	ENST00000333190.4	+	4	1979	c.1370G>C	c.(1369-1371)tGg>tCg	p.W457S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	457						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTCTTCAATGGCCTACGGAA	0.418000										HNSCC(36;0.09)			12	63					0	0	0.00185496	0	0
KAT6A	7994	broad.mit.edu	37	8	41791631	41791631	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:41791631G>A	ENST00000396930.3	-	18	4650	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	KAT6A_ENST00000265713.2_Silent_p.T1369T|KAT6A_ENST00000406337.1_Silent_p.T1369T	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1369					histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding										AATCCAGCTCGGTTTCCTCTT	0.502000													15	93					0	0	0.000308642	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791871	34791871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:34791871G>A	ENST00000299505.6	+	2	1366	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	165										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGGACATTGAGGTAGAGTA	0.393000													10	43					0	0	0.000978159	0	0
FBXO34	55030	broad.mit.edu	37	14	55818744	55818744	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:55818744G>C	ENST00000313833.4	+	2	1881	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.E546Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	546										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGCTTGAGGCATCCAG	0.507000													41	122					0	0	0.00195071	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68215205	68215205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:68215205C>T	ENST00000347230.4	-	42	7706	c.7568G>A	c.(7567-7569)tGg>tAg	p.W2523*		NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2523					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTCAGAAGCCACTGGGCACA	0.642000													4	64					0	0	0.00024832	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806808	15806808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:15806808C>T	ENST00000550308.1	+	10	1558	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P393L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGTTACATCCCCCAGCTCCC	0.597000													27	61					0	0	0.00127121	0	0
ZNF33B	7582	broad.mit.edu	37	10	43090020	43090020	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:43090020A>T	ENST00000359467.3	-	5	492	c.378T>A	c.(376-378)ttT>ttA	p.F126L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	126						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CGTCCATGTTAAATGGTATTC	0.348000													11	66					0	0	0.000978159	0	0
WRNIP1	56897	broad.mit.edu	37	6	2779537	2779537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:2779537G>A	ENST00000380769.4	+	4	868	c.637G>A	c.(637-639)Gct>Act	p.A213T	WRNIP1_ENST00000380773.4_Missense_Mutation_p.A433T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.A408T|WRNIP1_ENST00000380764.1_Missense_Mutation_p.A49T			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	433					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGACACCCTGGCTTACCTCAG	0.532000													22	67					0	0	0.000720815	0	0
NRK	203447	broad.mit.edu	37	X	105183934	105183934	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:105183934G>A	ENST00000428173.2	+	23	4174	c.3871G>A	c.(3871-3873)Gaa>Aaa	p.E1291K	NRK_ENST00000243300.9_Missense_Mutation_p.E1290K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1290	CNH.						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						TAATGATCCAGAAAGTAAAAG	0.378000										HNSCC(51;0.14)			4	14					0	0	0.00024832	0	0
LAMC1	3915	broad.mit.edu	37	1	183085957	183085957	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:183085957T>A	ENST00000258341.4	+	8	1740	c.1483T>A	c.(1483-1485)Tgc>Agc	p.C495S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	495	Laminin EGF-like 5; first part.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCACACCCTGCTTCTGCTT	0.388000													18	73					0	0	0.000958276	0	0
C1orf109	54955	broad.mit.edu	37	1	38152075	38152075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:38152075C>T	ENST00000358011.4	-	3	514	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	C1orf109_ENST00000494120.1_5'UTR	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	109										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ATCTGAAACACTCGCTCCACA	0.498000													5	38					0	0	0.000602214	0	0
CASP8	841	broad.mit.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:202150039C>T	ENST00000358485.4	+	8	1676	c.1481_splice	c.e8+1	p.R494_splice	CASP8_ENST00000432109.2_Splice_Site_p.R435_splice|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502000										HNSCC(4;0.00038)			15	54					0	0	0.000422831	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858377	183858377	+	Silent	SNP	C	C	A	rs113994068		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:183858377C>A	ENST00000273783.3	+	7	1137	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R	EIF2B5_ENST00000444495.1_Silent_p.R339R	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	339			R -> P (in VWM).|R -> Q (in VWM).|R -> W (in VWM).		astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACTCATTCCCGGCACAACAT	0.587000													5	112					0.00116845	0.00764942	0.00116845	1	0
KCTD20	222658	broad.mit.edu	37	6	36449469	36449469	+	Silent	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:36449469G>C	ENST00000373731.2	+	6	1180	c.789G>C	c.(787-789)ctG>ctC	p.L263L	KCTD20_ENST00000536244.1_Silent_p.L118L|KCTD20_ENST00000449081.2_Silent_p.L97L|KCTD20_ENST00000544295.1_Silent_p.L17L|KCTD20_ENST00000474988.1_3'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	263						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTGTTGTGCTGACGGATGAGG	0.507000													8	54					0	0	0.000157383	0	0
PSPC1	55269	broad.mit.edu	37	13	20325582	20325582	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:20325582C>A	ENST00000338910.4	-	4	955	c.796G>T	c.(796-798)Gct>Tct	p.A266S		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	266	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CCAGGTTGAGCAAAACGTGGT	0.378000													12	41					0.000978159	0.00644666	0.000978159	1	0
MUC3A	4584	broad.mit.edu	37	7	100551548	100551548	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:100551548C>A	ENST00000319509.7	+	1	299	c.299C>A	c.(298-300)aCc>aAc	p.T100N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCTCTCCCACCATGTCCACT	0.458000													53	240					2.87258e-10	2.08953e-09	0.000781405	1	0
AC112229.4	0	broad.mit.edu	37	2	111144370	111144370	+	RNA	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:111144370T>C	ENST00000606848.1	-	0	1370																											GGCAGCACCATAGTGGCGGCC	0.622000													3	0					0	0	0.00024832	0	0
IRS4	8471	broad.mit.edu	37	X	107979141	107979141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:107979141C>T	ENST00000372129.2	-	1	510	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	145	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GATCACGCGCCGCGGTGGAAT	0.632000													7	35					0	0	0.000157383	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334841	33334841	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:33334841C>T	ENST00000023064.4	-	10	1185	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	SLC7A9_ENST00000590341.1_Missense_Mutation_p.G332S|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G332S	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	332					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCCTCCCGGCCCGCCACGTAA	0.567000													7	28					0	0	8.12818e-05	0	0
DENND5B	160518	broad.mit.edu	37	12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443000													5	33					0	0	8.12818e-05	0	0
AGK	55750	broad.mit.edu	37	7	141333766	141333766	+	Silent	SNP	C	C	T	rs144977618		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:141333766C>T	ENST00000355413.4	+	10	914	c.654C>T	c.(652-654)ggC>ggT	p.G218G	AGK_ENST00000535825.1_Silent_p.G215G|AGK_ENST00000473247.1_Silent_p.G190G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	218					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGATGCTGGCGTCAAAGTTA	0.368000													22	60					0	0	0.000720815	0	0
DNAH11	8701	broad.mit.edu	37	7	21639665	21639665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:21639665G>T	ENST00000328843.6	+	15	2959	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M976I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	976	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGAAGAAATGTTATGCAATA	0.373000									Kartagener syndrome				5	94					5.9392e-07	4.1959e-06	0.00116845	1	0
DENND4C	55667	broad.mit.edu	37	9	19346744	19346744	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:19346744C>G	ENST00000307015.9	+	19	3293	c.1541C>G	c.(1540-1542)tCa>tGa	p.S514*	DENND4C_ENST00000380432.2_Nonsense_Mutation_p.S1041*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.S1326*|DENND4C_ENST00000540671.1_Nonsense_Mutation_p.S371*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.S1277*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1041						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAGGAGATCAAGCCTACCT	0.433000													12	93					0	0	0.000978159	0	0
KIF24	347240	broad.mit.edu	37	9	34290194	34290194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:34290194C>T	ENST00000379166.2	-	5	1224	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	KIF24_ENST00000345050.2_Intron|KIF24_ENST00000402558.2_Missense_Mutation_p.D369N|KIF24_ENST00000379174.3_Intron	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	369	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D369Y(1)		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)			TTTAGGAGGTCATAAAGCTGT	0.413000													22	82					0	0	0.000375601	0	0
MEA1	4201	broad.mit.edu	37	6	42980233	42980233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:42980233C>T	ENST00000244711.3	-	4	687	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	178					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATGCCTGCCGGGCTTGGAG	0.582000													37	172					0	0	0.000953801	0	0
SYT1	6857	broad.mit.edu	37	12	79685859	79685859	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:79685859G>T	ENST00000261205.4	+	6	1080	c.423G>T	c.(421-423)gaG>gaT	p.E141D	SYT1_ENST00000552744.1_Missense_Mutation_p.E141D|SYT1_ENST00000393240.3_Missense_Mutation_p.E141D|SYT1_ENST00000457153.2_Missense_Mutation_p.E138D	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	141	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAAGAGGAGAAACTGGGAA	0.368000													10	37					7.48243e-07	5.24839e-06	0.000442599	1	0
OLFM1	10439	broad.mit.edu	37	9	138011897	138011897	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:138011897A>G	ENST00000252854.4	+	6	1464	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	OLFM1_ENST00000371796.3_Missense_Mutation_p.N417S|OLFM1_ENST00000371793.3_Missense_Mutation_p.N444S	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	444	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCATTCCAGAACAAATACTCC	0.537000													13	82					0	0	0.00136819	0	0
ACRBP	84519	broad.mit.edu	37	12	6749669	6749669	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:6749669C>T	ENST00000229243.2	-	7	1190	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	ACRBP_ENST00000414226.2_Missense_Mutation_p.R333Q|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	366						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CATGTGTCGCCGCCCAAGGCT	0.637000													8	23					0	0	0.000157383	0	0
CDK4	1019	broad.mit.edu	37	12	58143273	58143273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:58143273C>T	ENST00000257904.6	-	6	1012	c.647G>A	c.(646-648)gGa>gAa	p.G216E	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.G96E|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.E99K|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	216	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCAGAGTTTCCACAGAAGAG	0.418000			Mis			melanoma			Hereditary Melanoma				6	29					0	0	0.000157383	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					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)		GGGGGTGGGGAGGCCTGGGGG	0.607000													3	20					0	0	0.000602214	0	0
TEKT3	64518	broad.mit.edu	37	17	15234646	15234646	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:15234646T>C	ENST00000395930.1	-	3	443	c.257A>G	c.(256-258)aAc>aGc	p.N86S	TEKT3_ENST00000338696.2_Missense_Mutation_p.N86S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	86					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGTGGTTCTGTTGGAAACAAA	0.478000													31	67					0	0	0.000339439	0	0
RASA4CP	401331	broad.mit.edu	37	7	44073724	44073724	+	RNA	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:44073724G>T	ENST00000446874.1	-	0	388																											CCAGAGGCCCGATCTCGCAGT	0.622000													5	11					0.000602214	0.00402296	0.000602214	1	0
OR51I2	390064	broad.mit.edu	37	11	5475541	5475541	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:5475541C>A	ENST00000341449.2	+	1	904	c.823C>A	c.(823-825)Ctc>Atc	p.L275I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATACATGTCCTCATGTCAAA	0.473000													47	158					1.23713e-20	9.4911e-20	0.000781405	1	0
MYH9	4627	broad.mit.edu	37	22	36688143	36688143	+	Silent	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:36688143C>A	ENST00000216181.5	-	31	4463	c.4233G>T	c.(4231-4233)ctG>ctT	p.L1411L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1411					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGTCTTCTCCAGCTTGTCGT	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	75					6.40141e-05	0.000436541	0.000978159	1	0
GLIS1	148979	broad.mit.edu	37	1	54060170	54060170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:54060170G>A	ENST00000312233.2	-	3	972	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	136					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CAGGCTTCAAGTTGCAAGCTG	0.667000													12	42					0	0	0.00185496	0	0
TTC23L	153657	broad.mit.edu	37	5	34864544	34864544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:34864544G>A	ENST00000505624.1	+	6	642	c.539G>A	c.(538-540)gGc>gAc	p.G180D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	180							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TATTTCACTGGCAGAGAAGCC	0.423000													6	105					0	0	0.00116845	0	0
FLNB	2317	broad.mit.edu	37	3	58120482	58120482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:58120482C>G	ENST00000357272.4	+	27	4819	c.4654C>G	c.(4654-4656)Ctt>Gtt	p.L1552V	FLNB_ENST00000493452.1_Missense_Mutation_p.L1383V|FLNB_ENST00000348383.5_Missense_Mutation_p.L1552V|FLNB_ENST00000295956.4_Missense_Mutation_p.L1552V|FLNB_ENST00000429972.2_Missense_Mutation_p.L1552V|FLNB_ENST00000358537.3_Missense_Mutation_p.L1552V|FLNB_ENST00000419752.2_Missense_Mutation_p.L1383V|FLNB_ENST00000490882.1_Missense_Mutation_p.L1583V			O75369	FLNB_HUMAN	filamin B, beta	1552					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGGCCTGCTTGCTGTTCA	0.473000													43	132					0	0	0.000680045	0	0
PSD3	23362	broad.mit.edu	37	8	18725364	18725364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:18725364C>T	ENST00000440756.2	-	4	1556	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	PSD3_ENST00000523619.1_Missense_Mutation_p.R420H|PSD3_ENST00000327040.8_Missense_Mutation_p.R485H			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	485					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.R485H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTTTAATGCGCTGTTGTAT	0.463000													45	154					0	0	0.000781405	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103573994	103573994	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:103573994C>T	ENST00000380069.3	+	9	1804	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	576										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGCACCGGTTCGTGGTCCGCG	0.697000													4	7					0	0	0.00024832	0	0
ATP7B	540	broad.mit.edu	37	13	52542595	52542595	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:52542595G>A	ENST00000242839.4	-	4	1848	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G	ATP7B_ENST00000418097.2_Silent_p.G564G|ATP7B_ENST00000400366.3_Silent_p.G453G|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000448424.2_Silent_p.G564G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.G564G|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	564					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTCAATGTTGCCATCGGAGC	0.498000									Wilson disease				8	39					0	0	0.000157383	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120291479	120291479	+	Missense_Mutation	SNP	G	G	A	rs34754222		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:120291479G>A	ENST00000397843.2	+	5	383	c.217G>A	c.(217-219)Gta>Ata	p.V73I	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V54I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	73	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCAGCGTTGCGTAATCATCCA	0.383000			T	MLL	AML								23	48					0	0	0.000720815	0	0
GNB1	2782	broad.mit.edu	37	1	1720641	1720641	+	Missense_Mutation	SNP	C	C	T	rs11554059		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:1720641C>T	ENST00000378609.4	-	10	1098	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	256					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CTGGTCAGCACGAAGGTCAAA	0.522000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	30					0	0	0.00136819	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832944	101832944	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:101832944G>T	ENST00000263468.8	+	6	1448	c.1178G>T	c.(1177-1179)aGg>aTg	p.R393M	KIAA1377_ENST00000537689.1_Missense_Mutation_p.R194M	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	393							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)		AGCACTATGAGGACAACTGAC	0.388000													8	45					0.000274275	0.00184478	0.000274275	1	0
MEI1	150365	broad.mit.edu	37	22	42189908	42189908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:42189908G>C	ENST00000401548.3	+	27	3461	c.3421G>C	c.(3421-3423)Gac>Cac	p.D1141H	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.D474H|MEI1_ENST00000300398.4_Missense_Mutation_p.D149H	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1141							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCGGAGCCCAGACATTGGTAG	0.502000													5	13					0	0	0.00116845	0	0
OR5D18	219438	broad.mit.edu	37	11	55587492	55587492	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:55587492C>T	ENST00000333976.4	+	1	407	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCATTTGCAACCCTCTGCTCT	0.478000													44	159					0	0	0.00195071	0	0
RBL2	5934	broad.mit.edu	37	16	53524139	53524139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:53524139G>C	ENST00000262133.6	+	22	3484	c.3347G>C	c.(3346-3348)aGa>aCa	p.R1116T	RBL2_ENST00000544545.1_Missense_Mutation_p.R495T|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1116					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTGCAAAAAGAATTTGCCCA	0.393000													21	49					0	0	0.00121646	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953472	43953472	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:43953472A>T	ENST00000282406.4	+	17	2713	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	868	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATCTTGTGATTCAGATGAA	0.388000													10	44					0	0	0.000673444	0	0
FAM47A	158724	broad.mit.edu	37	X	34149003	34149003	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:34149003C>T	ENST00000346193.3	-	1	1444	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	465										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCAGGGTTCCCCACAAGGG	0.602000													13	45					0	0	0.00136819	0	0
GRIK3	2899	broad.mit.edu	37	1	37271718	37271718	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:37271718G>A	ENST00000373091.3	-	14	2317	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	GRIK3_ENST00000373093.4_Silent_p.I767I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	767					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGGCGTGCCGATGCCGTAGC	0.662000													13	53					0	0	0.00185496	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228943	118228943	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:118228943G>A	ENST00000360388.4	+	1	255	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	18					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CGCCAGCCCCGCCGAACCATG	0.746000													14	16					0	0	0.000566183	0	0
INPP5F	22876	broad.mit.edu	37	10	121582640	121582640	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:121582640G>C	ENST00000361976.2	+	18	2256	c.2090G>C	c.(2089-2091)aGa>aCa	p.R697T	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.R87T	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	697							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGCACTACAGATACAAAGAA	0.403000													3	58					0	0	6.4e-05	0	0
TEKT3	64518	broad.mit.edu	37	17	15215733	15215733	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:15215733C>A	ENST00000395930.1	-	7	1130	c.944G>T	c.(943-945)cGg>cTg	p.R315L	TEKT3_ENST00000338696.2_Missense_Mutation_p.R315L	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	315					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.R315Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGAAGCTGCCCGTTCACTCTG	0.458000													20	57					1.33834e-09	9.66358e-09	0.000958276	1	0
SHC4	399694	broad.mit.edu	37	15	49127202	49127202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:49127202G>A	ENST00000332408.4	-	11	1929	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	SHC4_ENST00000537958.1_Nonsense_Mutation_p.Q215*|SHC4_ENST00000396535.3_Nonsense_Mutation_p.Q258*	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	501	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCACCCGGCTGAACAGTTTCT	0.468000													4	11					0	0	0.000602214	0	0
PER1	5187	broad.mit.edu	37	17	8053316	8053316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:8053316C>T	ENST00000317276.4	-	4	739	c.502G>A	c.(502-504)Gca>Aca	p.A168T	PER1_ENST00000581082.1_Missense_Mutation_p.A168T|PER1_ENST00000354903.5_Missense_Mutation_p.A152T	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	168					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGGCCAGTGCGTACTGCAGC	0.627000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					41	102					0	0	0.000437636	0	0
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTGAGTCCGCATGCCAATG	0.507000													7	282					0	0	0.000274275	0	0
USP29	57663	broad.mit.edu	37	19	57642405	57642405	+	Missense_Mutation	SNP	G	G	T	rs148519716		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:57642405G>T	ENST00000254181.4	+	4	2816	c.2362G>T	c.(2362-2364)Ggt>Tgt	p.G788C	USP29_ENST00000598197.1_Missense_Mutation_p.G788C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	788					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGGCACTGGGTTCTGACAA	0.458000													14	31					3.27435e-08	2.33001e-07	0.000219431	1	0
FSTL4	23105	broad.mit.edu	37	5	132556521	132556521	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:132556521G>A	ENST00000265342.7	-	12	1626	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	FSTL4_ENST00000507112.1_5'UTR|CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	459						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATACCGTCGTCGGAGAAGA	0.547000													19	84					0	0	0.000958276	0	0
PHYHIPL	84457	broad.mit.edu	37	10	61005100	61005100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:61005100G>T	ENST00000373880.4	+	5	1144	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	PHYHIPL_ENST00000373878.3_Nonsense_Mutation_p.E268*	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	294										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						ACCAGGAGATGAATTTTGTAA	0.403000													19	55					9.95505e-16	7.51989e-15	0.000295444	1	0
QRICH2	84074	broad.mit.edu	37	17	74289852	74289852	+	Missense_Mutation	SNP	C	C	T	rs138229886		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:74289852C>T	ENST00000262765.5	-	4	637	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	153							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGCTTCATCACGGGCCCTCGG	0.542000													14	50					0	0	0.000422831	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308365	35308365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:35308365C>T	ENST00000278379.3	-	8	1507	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	SLC1A2_ENST00000395753.1_Missense_Mutation_p.A400T|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A400T|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A409T	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	409					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATAAAGATGGCGGCTACCGCT	0.468000													17	141					0	0	0.00074312	0	0
MYH7	4625	broad.mit.edu	37	14	23886750	23886750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:23886750C>T	ENST00000355349.3	-	31	4477	c.4315G>A	c.(4315-4317)Gct>Act	p.A1439T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1439					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGCTGCAGCAGCAGCATTG	0.602000													17	86					0	0	0.000566183	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999913	112999913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:112999913C>T	ENST00000271277.6	+	6	2024	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	600						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		ACTCCATTGACCAAAACTCAT	0.522000													10	79					0	0	0.000442599	0	0
AQP10	89872	broad.mit.edu	37	1	154295468	154295468	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:154295468G>A	ENST00000484864.1	+	3	279	c.243G>A	c.(241-243)ctG>ctA	p.L81L	AQP10_ENST00000324978.3_Silent_p.L81L|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	81					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGCCCACCTGAATCCAGCCT	0.507000													25	74					0	0	0.00047179	0	0
RGS21	431704	broad.mit.edu	37	1	192335209	192335209	+	Silent	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:192335209T>C	ENST00000417209.2	+	5	588	c.414T>C	c.(412-414)aaT>aaC	p.N138N		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	138					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AACTGGTAAATAGCCAACAGG	0.333000													13	46					0	0	0.00136819	0	0
CHD6	84181	broad.mit.edu	37	20	40192733	40192733	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr20:40192733C>T	ENST00000373222.3	-	2	93	c.55G>A	c.(55-57)Gag>Aag	p.E19K	CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron			Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2330					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ccctgggtctcagtttcttca	0.413000													7	33					0	0	8.12818e-05	0	0
MBOAT1	154141	broad.mit.edu	37	6	20124638	20124638	+	Splice_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:20124638C>T	ENST00000541730.1	-	7	1056		c.e7+1		MBOAT1_ENST00000324607.7_Splice_Site			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1						phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATCAAACTTACCTAATGTCCA	0.428000													12	45					0	0	0.000978159	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414331	213414331	+	Silent	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:213414331A>C	ENST00000366960.3	+	11	1662	c.1512A>C	c.(1510-1512)tcA>tcC	p.S504S	RPS6KC1_ENST00000366959.3_Silent_p.S492S|RPS6KC1_ENST00000543470.1_Silent_p.S292S|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Silent_p.S207S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	504					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCAAGTTCAGAAGAAGAAT	0.408000													15	35					0	0	0.000422831	0	0
ABCA3	21	broad.mit.edu	37	16	2347779	2347779	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:2347779G>A	ENST00000301732.5	-	16	2740	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	ABCA3_ENST00000382381.3_Silent_p.I622I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	680	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGAGCCTGCGATGAGGGCGA	0.662000													10	54					0	0	0.000978159	0	0
KRT35	3886	broad.mit.edu	37	17	39635675	39635675	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:39635675A>C	ENST00000246639.2	-	3	677	c.545T>G	c.(544-546)cTg>cGg	p.L182R	KRT35_ENST00000393989.1_Missense_Mutation_p.L212R			Q92764	KRT35_HUMAN	keratin 35	212	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGACTTGCACAGGGTCAGGTC	0.597000													18	82					0	0	0.00074312	0	0
RS1	6247	broad.mit.edu	37	X	18662590	18662590	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:18662590A>C	ENST00000379984.3	-	5	522	c.482T>G	c.(481-483)cTg>cGg	p.L161R	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	161	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AATCCAGTTCAGGCGCTCATC	0.532000													6	95					0	0	0.000157383	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796851	1796851	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:1796851C>T	ENST00000539485.1	-	16	1845	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	ATP8B3_ENST00000525591.1_Missense_Mutation_p.A491T|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A538T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	538					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCCGTCGGCGAACTTGTTC	0.721000													7	20					0	0	0.000157383	0	0
PRR12	57479	broad.mit.edu	37	19	50102549	50102549	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:50102549G>A	ENST00000418929.2	+	5	3711	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	412							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGTGCCCAAGGCTGGCGAGG	0.617000													6	22					0	0	0.00116845	0	0
HNRNPL	3191	broad.mit.edu	37	19	39334716	39334716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:39334716C>G	ENST00000221419.5	-	5	1105	c.739G>C	c.(739-741)Gcc>Ccc	p.A247P	HNRNPL_ENST00000600873.1_Missense_Mutation_p.A114P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	247	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGCCTTGGCCCGCTGGGCA	0.493000													20	65					0	0	0.00188189	0	0
MEF2C	4208	broad.mit.edu	37	5	88056848	88056848	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:88056848A>T	ENST00000340208.5	-	6	818	c.413T>A	c.(412-414)aTt>aAt	p.I138N	MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000424173.2_Missense_Mutation_p.I118N	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	120					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCTTCATTAATTTTTTTGTA	0.398000										HNSCC(66;0.2)			5	93					0	0	0.000602214	0	0
FBXO8	26269	broad.mit.edu	37	4	175158632	175158632	+	Missense_Mutation	SNP	T	T	A	rs148818503		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:175158632T>A	ENST00000393674.2	-	6	1753	c.891A>T	c.(889-891)caA>caT	p.Q297H	FBXO8_ENST00000503293.1_Missense_Mutation_p.Q256H	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	297					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CACTAATATTTTGAGCAGCGC	0.378000													19	58					0	0	0.00152264	0	0
NOD2	64127	broad.mit.edu	37	16	50745602	50745602	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:50745602G>A	ENST00000300589.2	+	4	1885	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	594	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTCGTGCCAGGGAGTACGGC	0.577000													10	26					0	0	0.000673444	0	0
OR1E2	8388	broad.mit.edu	37	17	3336564	3336564	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:3336564G>T	ENST00000248384.1	-	1	571	c.572C>A	c.(571-573)tCt>tAt	p.S191Y		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	191					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						CAGCAGAGCAGACATATCACA	0.468000													18	27					4.75885e-15	3.56732e-14	0.000566183	1	0
KRT37	8688	broad.mit.edu	37	17	39580482	39580482	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:39580482G>A	ENST00000225550.3	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	98	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CATTCAGGGTGTTTTTGCCGT	0.582000													21	68					0	0	0.00121646	0	0
MYH9	4627	broad.mit.edu	37	22	36688144	36688144	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:36688144A>G	ENST00000216181.5	-	31	4462	c.4232T>C	c.(4231-4233)cTg>cCg	p.L1411P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1411					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCTTCTCCAGCTTGTCGTA	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	75					0	0	0.000978159	0	0
TMEM187	8269	broad.mit.edu	37	X	153247752	153247752	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:153247752T>C	ENST00000369982.4	+	2	986	c.239T>C	c.(238-240)cTg>cCg	p.L80P		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	80						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGATGGGGCTGGGTCCCCGC	0.692000													7	24					0	0	0.000157383	0	0
NEIL2	252969	broad.mit.edu	37	8	11637389	11637389	+	Missense_Mutation	SNP	G	G	A	rs113905789		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:11637389G>A	ENST00000284503.6	+	3	1020	c.421G>A	c.(421-423)Gtt>Att	p.V141I	NEIL2_ENST00000455213.2_Missense_Mutation_p.V141I|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.V80I|NEIL2_ENST00000436750.3_Missense_Mutation_p.V141I	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	141					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GTTTGGCAGCGTTTGGGTGAA	0.572000								Base excision repair (BER), DNA glycosylases					34	75					0	0	0.00128727	0	0
THSD4	79875	broad.mit.edu	37	15	72039251	72039251	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:72039251G>T	ENST00000355327.3	+	13	2245	c.2111G>T	c.(2110-2112)cGc>cTc	p.R704L	THSD4_ENST00000357769.4_Missense_Mutation_p.R344L|THSD4_ENST00000261862.6_Missense_Mutation_p.R704L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	704	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTCTGTGCCGCCAGGTGTAC	0.627000													13	27					1.3612e-06	9.48015e-06	0.000308642	1	0
SLC38A8	146167	broad.mit.edu	37	16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622000													15	55					0	0	0.000308642	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635071	122635071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:122635071C>A	ENST00000249284.2	-	1	683	c.618G>T	c.(616-618)caG>caT	p.Q206H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	206					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATGTTGTATCTGCTTGGTCA	0.463000													18	92					1.00905e-13	7.45026e-13	0.00121646	1	0
PDE1B	5153	broad.mit.edu	37	12	54968993	54968993	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:54968993C>G	ENST00000243052.3	+	11	1612	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.F351L|PDE1B_ENST00000550620.1_Missense_Mutation_p.F372L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	392	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGGAGGAATTCTTCCGTCAGG	0.577000													27	85					0	0	0.00127121	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49288750	49288750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:49288750C>T	ENST00000559471.1	-	17	2700	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E768K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	813										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCCTGGCCTCCTCAGTGAGT	0.368000													55	192					0	0	0.000781405	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771490	150771490	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:150771490G>A	ENST00000485713.1	+	18	3835	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932Q|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918Q|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850Q|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923Q	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTCAGATCCGGCGGGTGATT	0.597000													35	98					0	0	0.000814825	0	0
CDH12	1010	broad.mit.edu	37	5	21817158	21817158	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:21817158G>T	ENST00000382254.1	-	9	1984	c.898C>A	c.(898-900)Caa>Aaa	p.Q300K	CDH12_ENST00000522262.1_Missense_Mutation_p.Q260K|CDH12_ENST00000504376.2_Missense_Mutation_p.Q300K|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	300	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGCATTTTGTCCAAAATCA	0.388000										HNSCC(59;0.17)			14	87					3.27435e-08	2.33001e-07	0.000219431	1	0
CREBBP	1387	broad.mit.edu	37	16	3778424	3778424	+	Silent	SNP	T	T	C	rs142545779	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:3778424T>C	ENST00000262367.5	-	31	7433	c.6624A>G	c.(6622-6624)caA>caG	p.Q2208Q	CREBBP_ENST00000382070.3_Silent_p.Q2170Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2208	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q2208H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gttgctgctgttgttgctgct	0.617000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	32					0	0	0.00116845	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28120928	28120928	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:28120928C>T	ENST00000330236.6	+	6	1054	c.870C>T	c.(868-870)aaC>aaT	p.N290N	ZKSCAN8_ENST00000457389.2_Silent_p.N290N	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																		CCAAATGCAACGGGGATGTTA	0.493000													19	36					0	0	0.00074312	0	0
PRKACA	5566	broad.mit.edu	37	19	14213716	14213716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:14213716A>G	ENST00000308677.4	-	4	444	c.248T>C	c.(247-249)cTg>cCg	p.L83P	PRKACA_ENST00000589994.1_Missense_Mutation_p.L75P|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	83	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTGTTTCAGTTTCACCAC	0.562000													23	81					0	0	0.000295444	0	0
RAET1K	646024	broad.mit.edu	37	6	150322076	150322076	+	RNA	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:150322076C>T	ENST00000533735.1	-	0	800					NR_024045.1																						TGGAAGAACACGGTCACCTCC	0.433000													6	21					0	0	8.12818e-05	0	0
ZNF174	7727	broad.mit.edu	37	16	3452371	3452371	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:3452371G>T	ENST00000268655.4	+	1	952	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000344823.5_Missense_Mutation_p.D123Y|ZNF174_ENST00000571936.1_Missense_Mutation_p.D123Y|ZNF174_ENST00000572544.1_Missense_Mutation_p.D123Y|ZNF174_ENST00000575752.1_Missense_Mutation_p.D123Y	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	123	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCGTGGAAGATTTTCACAG	0.488000													20	50					1.55795e-14	1.15902e-13	0.00188189	1	0
CTNNAL1	8727	broad.mit.edu	37	9	111745573	111745573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:111745573C>T	ENST00000374595.4	-	6	831	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.C251Y|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.C251Y			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	251					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGCTGATTCGCAGTTAGGATG	0.338000													10	41					0	0	0.000673444	0	0
PAX4	5078	broad.mit.edu	37	7	127253563	127253563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:127253563C>T	ENST00000341640.2	-	5	767	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PAX4_ENST00000463946.1_Missense_Mutation_p.D186N|PAX4_ENST00000338516.3_Missense_Mutation_p.D196N|PAX4_ENST00000378740.2_Missense_Mutation_p.D188N	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	196					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTGAATCAGGATACTGC	0.577000													15	55					0	0	0.000308642	0	0
ESPL1	9700	broad.mit.edu	37	12	53671305	53671305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:53671305G>A	ENST00000257934.4	+	10	2228	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E713K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	713					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGGAATTTGAAGTCAATGA	0.502000													16	38					0	0	0.000422831	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682402	69682402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:69682402G>C	ENST00000265403.7	+	1	692	c.665G>C	c.(664-666)tGg>tCg	p.W222S	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	222					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTGACTTTTGGTTCCAAATA	0.313000													17	65					0	0	0.000958276	0	0
IGHG3	3502	broad.mit.edu	37	14	106236201	106236201	+	RNA	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:106236201C>T	ENST00000390551.2	-	0	602																											AACTGGACCTCGGGGTCTTCG	0.587000													38	116					0	0	0.00148497	0	0
ABCC9	10060	broad.mit.edu	37	12	21981956	21981956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:21981956G>A	ENST00000261200.4	-	29	3604	c.3605C>T	c.(3604-3606)aCg>aTg	p.T1202M	ABCC9_ENST00000345162.2_Missense_Mutation_p.T1166M|ABCC9_ENST00000261201.4_Missense_Mutation_p.T1202M|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1202	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.L1201fs*33(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTGTATCCGTCAGTTCCAG	0.413000													19	95					0	0	0.000958276	0	0
AC112229.4	0	broad.mit.edu	37	2	111144800	111144800	+	RNA	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:111144800G>A	ENST00000606848.1	-	0	940																											CTACTGATGCGACGCAGGGTT	0.587000													4	25					0	0	0.000602214	0	0
OR4D6	219983	broad.mit.edu	37	11	59225310	59225310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:59225310G>A	ENST00000300127.2	+	1	900	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GAGAAATCAAGAGATGAAGTC	0.522000													44	117					0	0	0.000781405	0	0
PLK2	10769	broad.mit.edu	37	5	57751189	57751189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr5:57751189C>T	ENST00000274289.3	-	12	1978	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	560	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCAGGAGCATCTGTTGCTGGG	0.408000													15	67					0	0	0.000422831	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280968	32280968	+	Translation_Start_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:32280968C>T	ENST00000360482.2	-	0	96				SPOCD1_ENST00000533231.1_De_novo_Start_OutOfFrame|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_De_novo_Start_OutOfFrame	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1						transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AAGCACAACACGGGCCCTGTG	0.602000													11	27					0	0	0.000673444	0	0
ALLC	55821	broad.mit.edu	37	2	3726069	3726069	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:3726069G>A	ENST00000252505.3	+	4	258	c.96G>A	c.(94-96)ccG>ccA	p.P32P		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	51							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GTGACAGCCCGTGCTTCAAAG	0.488000										HNSCC(21;0.051)			7	30					0	0	8.12818e-05	0	0
ITGB1	3688	broad.mit.edu	37	10	33211200	33211200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr10:33211200G>C	ENST00000396033.2	-	9	1248	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	ITGB1_ENST00000423113.1_Missense_Mutation_p.I371M|ITGB1_ENST00000374956.4_Missense_Mutation_p.I371M|ITGB1_ENST00000302278.3_Missense_Mutation_p.I371M	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	371	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ATGCATCAATGATCAACTGAA	0.328000													19	79					0	0	0.000958276	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169470	207169470	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:207169470C>A	ENST00000374423.3	+	5	604	c.218C>A	c.(217-219)aCt>aAt	p.T73N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	73							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CATGTGAATACTGGGTCATCG	0.383000													22	39					2.21704e-12	1.3487e-11	0.000375601	1	0
PRKD1	5587	broad.mit.edu	37	14	30135410	30135410	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr14:30135410G>A	ENST00000331968.5	-	3	637	c.408C>T	c.(406-408)tcC>tcT	p.S136S	PRKD1_ENST00000415220.2_Silent_p.S136S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	136					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAGGTGGCGGAAGCTGTAA	0.403000													19	52					0	0	0.00121646	0	0
CHSY1	22856	broad.mit.edu	37	15	101719133	101719133	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr15:101719133C>G	ENST00000254190.3	-	3	1344	c.869G>C	c.(868-870)aGa>aCa	p.R290T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	290					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.R290T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGGAGATCTCTAATGTACCC	0.398000													13	57					0	0	0.00185496	0	0
KMT2C	58508	broad.mit.edu	37	7	151848538	151848538	+	Missense_Mutation	SNP	G	G	A	rs139111507	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:151848538G>A	ENST00000355193.2	-	51	13044	c.12826C>T	c.(12826-12828)Ctt>Ttt	p.L4276F	KMT2C_ENST00000262189.6_Missense_Mutation_p.L4219F					lysine (K)-specific methyltransferase 2C																		TTGTTCAAAAGGGTCAGATCT	0.463000													6	20					0	0	0.00116845	0	0
IARS	3376	broad.mit.edu	37	9	95043159	95043159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr9:95043159G>A	ENST00000375643.3	-	7	880	c.614C>T	c.(613-615)tCa>tTa	p.S205L	IARS_ENST00000447699.2_Missense_Mutation_p.S95L|IARS_ENST00000443024.2_Missense_Mutation_p.S205L|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	205					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TACAAATACTGAAGGATCTTG	0.368000													5	35					0	0	0.000602214	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377777	113377777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr3:113377777G>A	ENST00000316407.4	-	7	3162	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.Q918*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	918					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATGTCTCTTGTTGTAGATTA	0.448000													33	98					0	0	0.000692331	0	0
KCTD20	222658	broad.mit.edu	37	6	36449469	36449469	+	Silent	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:36449469G>C	ENST00000373731.2	+	6	1180	c.789G>C	c.(787-789)ctG>ctC	p.L263L	KCTD20_ENST00000536244.1_Silent_p.L118L|KCTD20_ENST00000544295.1_Silent_p.L17L|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000449081.2_Silent_p.L97L	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	263						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTGTTGTGCTGACGGATGAGG	0.507000													8	54					0	0	0.000157383	0	0
CPSF2	53981	broad.mit.edu	37	14	92601740	92601740	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr14:92601740C>T	ENST00000298875.4	+	6	730	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	149					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TATCACACCTCTGCCAGCTGG	0.368000													14	57					0	0	0.000308642	0	0
FBXO38	81545	broad.mit.edu	37	5	147819261	147819261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr5:147819261C>G	ENST00000340253.5	+	19	3244	c.3076C>G	c.(3076-3078)Cac>Gac	p.H1026D	FBXO38_ENST00000296701.6_Missense_Mutation_p.H781D|FBXO38_ENST00000513826.1_Missense_Mutation_p.H781D|FBXO38_ENST00000394370.3_Missense_Mutation_p.H951D			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1026						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACCCCTATCACATCTGTAT	0.433000													16	88					0	0	0.00074312	0	0
GPR45	11250	broad.mit.edu	37	2	105858505	105858505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:105858505G>T	ENST00000258456.1	+	1	306	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	64						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.A64T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCAGAGGCCGGCTATGCGCTC	0.617000													33	104					1.56442e-22	1.00178e-21	0.000409698	1	0
HNRNPL	3191	broad.mit.edu	37	19	39334716	39334716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:39334716C>G	ENST00000221419.5	-	5	1105	c.739G>C	c.(739-741)Gcc>Ccc	p.A247P	HNRNPL_ENST00000600873.1_Missense_Mutation_p.A114P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	247	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGCCTTGGCCCGCTGGGCA	0.493000													20	65					0	0	0.00188189	0	0
MYH9	4627	broad.mit.edu	37	22	36688144	36688144	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr22:36688144A>G	ENST00000216181.5	-	31	4462	c.4232T>C	c.(4231-4233)cTg>cCg	p.L1411P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1411					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGTCTTCTCCAGCTTGTCGTA	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	75					0	0	0.000978159	0	0
CACNG2	10369	broad.mit.edu	37	22	37098538	37098538	+	Silent	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr22:37098538C>A	ENST00000300105.6	-	1	1065	c.84G>T	c.(82-84)gtG>gtT	p.V28V		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	28					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTCGGTTCCCACAGCTATGG	0.453000													43	146					1.22102e-19	7.7508e-19	0.000781405	1	0
EPHA3	2042	broad.mit.edu	37	3	89448630	89448630	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr3:89448630T>A	ENST00000452448.2	+	7	1681	c.1594T>A	c.(1594-1596)Tgt>Agt	p.C532S	EPHA3_ENST00000336596.2_Splice_Site_p.S532_splice|EPHA3_ENST00000494014.1_Splice_Site_p.S532_splice	NM_182644.2	NP_872585.1	P29320	EPHA3_HUMAN	EPH receptor A3	0						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAGTCCAGACTGTATGTATTA	0.433000										TSP Lung(6;0.00050)			16	42					0	0	0.000566183	0	0
CLEC12B	387837	broad.mit.edu	37	12	10167883	10167883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:10167883C>T	ENST00000396502.1	+	4	570	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Nonsense_Mutation_p.Q148*	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	148						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TAAGATGTGGCAATGGTACCA	0.388000													23	94					0	0	0.00188189	0	0
ZNF208	7757	broad.mit.edu	37	19	22156897	22156897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:22156897G>T	ENST00000397126.4	-	4	1087	c.939C>A	c.(937-939)taC>taA	p.Y313*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTTACATTTGTAGGGCTTCT	0.418000													9	48					2.17888e-05	0.000124264	0.000442599	1	0
PTPRO	5800	broad.mit.edu	37	12	15742441	15742441	+	Missense_Mutation	SNP	C	C	T	rs61757814		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:15742441C>T	ENST00000281171.4	+	25	3793	c.3463C>T	c.(3463-3465)Cac>Tac	p.H1155Y	PTPRO_ENST00000442921.2_Missense_Mutation_p.H344Y|PTPRO_ENST00000348962.2_Missense_Mutation_p.H1127Y|PTPRO_ENST00000544244.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000542557.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000445537.2_Missense_Mutation_p.H344Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1155	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTCTTGCAGCACATTCGGGA	0.463000													29	77					0	0	0.000339439	0	0
TTC37	9652	broad.mit.edu	37	5	94833175	94833175	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr5:94833175G>T	ENST00000358746.2	-	34	3879	c.3581C>A	c.(3580-3582)gCt>gAt	p.A1194D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1194							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGACCAAAGAGCAGGGTCACC	0.373000													6	20					0.000157383	0.000883768	0.000157383	1	0
IRF2	3660	broad.mit.edu	37	4	185339790	185339790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr4:185339790G>A	ENST00000393593.3	-	4	467	c.260C>T	c.(259-261)tCc>tTc	p.S87F	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	87					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCAGGCAAGGAATTCATGGC	0.408000													8	36					0	0	0.000157383	0	0
WNT3	7473	broad.mit.edu	37	17	44845801	44845801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:44845801C>T	ENST00000225512.5	-	4	1115	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	318					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGTGTTGTGGCCCCGGCCACA	0.592000													31	117					0	0	0.000692331	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806808	15806808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:15806808C>T	ENST00000550308.1	+	10	1558	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	CYP4F12_ENST00000324632.9_Missense_Mutation_p.P393L	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGGTTACATCCCCCAGCTCCC	0.597000													27	61					0	0	0.00127121	0	0
WRNIP1	56897	broad.mit.edu	37	6	2779537	2779537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:2779537G>A	ENST00000380769.4	+	4	868	c.637G>A	c.(637-639)Gct>Act	p.A213T	WRNIP1_ENST00000380764.1_Missense_Mutation_p.A49T|WRNIP1_ENST00000380773.4_Missense_Mutation_p.A433T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.A408T			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	433					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGACACCCTGGCTTACCTCAG	0.532000													22	67					0	0	0.000720815	0	0
NRK	203447	broad.mit.edu	37	X	105183934	105183934	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chrX:105183934G>A	ENST00000428173.2	+	23	4174	c.3871G>A	c.(3871-3873)Gaa>Aaa	p.E1291K	NRK_ENST00000243300.9_Missense_Mutation_p.E1290K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1290	CNH.						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						TAATGATCCAGAAAGTAAAAG	0.378000										HNSCC(51;0.14)			4	14					0	0	0.00024832	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	6					0	0	0.000978159	0	0
DACH1	1602	broad.mit.edu	37	13	72053410	72053410	+	Silent	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr13:72053410T>C	ENST00000305425.4	-	8	2189	c.1767A>G	c.(1765-1767)caA>caG	p.Q589Q	DACH1_ENST00000354591.4_Silent_p.Q387Q|DACH1_ENST00000313174.7_Silent_p.Q441Q|DACH1_ENST00000359684.2_Silent_p.Q641Q	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	639					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGTTTCTCTTGAGCTCTGG	0.373000													20	86					0	0	0.00121646	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			18	44					0	0	0.00074312	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334841	33334841	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:33334841C>T	ENST00000023064.4	-	10	1185	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	SLC7A9_ENST00000590341.1_Missense_Mutation_p.G332S|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G332S	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	332					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCCTCCCGGCCCGCCACGTAA	0.567000													7	28					0	0	8.12818e-05	0	0
KAT6A	7994	broad.mit.edu	37	8	41791631	41791631	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr8:41791631G>A	ENST00000396930.3	-	18	4650	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	KAT6A_ENST00000406337.1_Silent_p.T1369T|KAT6A_ENST00000265713.2_Silent_p.T1369T	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1369					histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding										AATCCAGCTCGGTTTCCTCTT	0.502000													15	93					0	0	0.000308642	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791871	34791871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:34791871G>A	ENST00000299505.6	+	2	1366	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	165										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGGACATTGAGGTAGAGTA	0.393000													10	43					0	0	0.000978159	0	0
FBXO34	55030	broad.mit.edu	37	14	55818744	55818744	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr14:55818744G>C	ENST00000313833.4	+	2	1881	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.E546Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	546										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGCTTGAGGCATCCAG	0.507000													41	122					0	0	0.00195071	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68215205	68215205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr14:68215205C>T	ENST00000347230.4	-	42	7706	c.7568G>A	c.(7567-7569)tGg>tAg	p.W2523*		NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2523					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTCAGAAGCCACTGGGCACA	0.642000													4	64					0	0	0.00024832	0	0
HECW2	57520	broad.mit.edu	37	2	197183717	197183717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:197183717C>T	ENST00000260983.2	-	9	2079	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	HECW2_ENST00000409111.1_Missense_Mutation_p.E277K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	633					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCTCTCCCTCAGGCCTGGTG	0.592000													13	31					0	0	0.00136819	0	0
LAMC1	3915	broad.mit.edu	37	1	183085957	183085957	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:183085957T>A	ENST00000258341.4	+	8	1740	c.1483T>A	c.(1483-1485)Tgc>Agc	p.C495S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	495	Laminin EGF-like 5; first part.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCACACCCTGCTTCTGCTT	0.388000													18	73					0	0	0.000958276	0	0
C1orf109	54955	broad.mit.edu	37	1	38152075	38152075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:38152075C>T	ENST00000358011.4	-	3	514	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	C1orf109_ENST00000494120.1_5'UTR	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	109										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ATCTGAAACACTCGCTCCACA	0.498000													5	38					0	0	0.000602214	0	0
CASP8	841	broad.mit.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:202150039C>T	ENST00000358485.4	+	8	1676	c.1481_splice	c.e8+1	p.R494_splice	CASP8_ENST00000432109.2_Splice_Site_p.R435_splice|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502000										HNSCC(4;0.00038)			15	54					0	0	0.000422831	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635071	122635071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:122635071C>A	ENST00000249284.2	-	1	683	c.618G>T	c.(616-618)caG>caT	p.Q206H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	206					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATGTTGTATCTGCTTGGTCA	0.463000													18	92					1.00905e-13	6.18995e-13	0.00121646	1	0
EIF2B5	8893	broad.mit.edu	37	3	183858377	183858377	+	Silent	SNP	C	C	A	rs113994068		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr3:183858377C>A	ENST00000273783.3	+	7	1137	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R	EIF2B5_ENST00000444495.1_Silent_p.R339R	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	339			R -> P (in VWM).|R -> Q (in VWM).|R -> W (in VWM).		astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACTCATTCCCGGCACAACAT	0.587000													5	112					0.00116845	0.0062718	0.00116845	1	0
PSPC1	55269	broad.mit.edu	37	13	20325582	20325582	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr13:20325582C>A	ENST00000338910.4	-	4	955	c.796G>T	c.(796-798)Gct>Tct	p.A266S		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	266	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CCAGGTTGAGCAAAACGTGGT	0.378000													12	41					0.000978159	0.0052893	0.000978159	1	0
MUC3A	4584	broad.mit.edu	37	7	100551548	100551548	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:100551548C>A	ENST00000319509.7	+	1	299	c.299C>A	c.(298-300)aCc>aAc	p.T100N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCTCTCCCACCATGTCCACT	0.458000													53	240					2.87258e-10	1.73304e-09	0.000781405	1	0
IRS4	8471	broad.mit.edu	37	X	107979141	107979141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chrX:107979141C>T	ENST00000372129.2	-	1	510	c.434G>A	c.(433-435)cGg>cAg	p.R145Q		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	145	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GATCACGCGCCGCGGTGGAAT	0.632000													7	35					0	0	0.000157383	0	0
DENND5B	160518	broad.mit.edu	37	12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E|DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443000													5	33					0	0	8.12818e-05	0	0
DNAH11	8701	broad.mit.edu	37	7	21639665	21639665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:21639665G>T	ENST00000328843.6	+	15	2959	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	DNAH11_ENST00000409508.3_Missense_Mutation_p.M976I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	976	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGAAGAAATGTTATGCAATA	0.373000									Kartagener syndrome				5	94					5.9392e-07	3.49646e-06	0.00116845	1	0
DENND4C	55667	broad.mit.edu	37	9	19346744	19346744	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr9:19346744C>G	ENST00000307015.9	+	19	3293	c.1541C>G	c.(1540-1542)tCa>tGa	p.S514*	DENND4C_ENST00000380432.2_Nonsense_Mutation_p.S1041*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.S1326*|DENND4C_ENST00000540671.1_Nonsense_Mutation_p.S371*|DENND4C_ENST00000602925.1_Nonsense_Mutation_p.S1277*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1041						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAGGAGATCAAGCCTACCT	0.433000													12	93					0	0	0.000978159	0	0
MEA1	4201	broad.mit.edu	37	6	42980233	42980233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:42980233C>T	ENST00000244711.3	-	4	687	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	178					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATGCCTGCCGGGCTTGGAG	0.582000													37	172					0	0	0.000953801	0	0
SYT1	6857	broad.mit.edu	37	12	79685859	79685859	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:79685859G>T	ENST00000261205.4	+	6	1080	c.423G>T	c.(421-423)gaG>gaT	p.E141D	SYT1_ENST00000393240.3_Missense_Mutation_p.E141D|SYT1_ENST00000552744.1_Missense_Mutation_p.E141D|SYT1_ENST00000457153.2_Missense_Mutation_p.E138D	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	141	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAAGAGGAGAAACTGGGAA	0.368000													10	37					7.48243e-07	4.36974e-06	0.000442599	1	0
OLFM1	10439	broad.mit.edu	37	9	138011897	138011897	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr9:138011897A>G	ENST00000252854.4	+	6	1464	c.1277A>G	c.(1276-1278)aAc>aGc	p.N426S	OLFM1_ENST00000371793.3_Missense_Mutation_p.N444S|OLFM1_ENST00000371796.3_Missense_Mutation_p.N417S	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	444	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCATTCCAGAACAAATACTCC	0.537000													13	82					0	0	0.00136819	0	0
ACRBP	84519	broad.mit.edu	37	12	6749669	6749669	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:6749669C>T	ENST00000229243.2	-	7	1190	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	ACRBP_ENST00000414226.2_Missense_Mutation_p.R333Q|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	366						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CATGTGTCGCCGCCCAAGGCT	0.637000													8	23					0	0	0.000157383	0	0
ZNF462	58499	broad.mit.edu	37	9	109687520	109687520	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr9:109687520T>C	ENST00000277225.5	+	3	1616	c.1327T>C	c.(1327-1329)Ttt>Ctt	p.F443L	ZNF462_ENST00000457913.1_Missense_Mutation_p.F443L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	443					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCAGTGCCCCTTTTGTCCTTT	0.463000													3	150					0	0	0.00024832	0	0
CDK4	1019	broad.mit.edu	37	12	58143273	58143273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:58143273C>T	ENST00000257904.6	-	6	1012	c.647G>A	c.(646-648)gGa>gAa	p.G216E	CDK4_ENST00000540325.1_Missense_Mutation_p.G96E|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.E99K|CDK4_ENST00000551888.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	216	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCAGAGTTTCCACAGAAGAG	0.418000			Mis			melanoma			Hereditary Melanoma				6	29					0	0	0.000157383	0	0
TEKT3	64518	broad.mit.edu	37	17	15234646	15234646	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:15234646T>C	ENST00000395930.1	-	3	443	c.257A>G	c.(256-258)aAc>aGc	p.N86S	TEKT3_ENST00000338696.2_Missense_Mutation_p.N86S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	86					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGTGGTTCTGTTGGAAACAAA	0.478000													31	67					0	0	0.000339439	0	0
RASA4CP	401331	broad.mit.edu	37	7	44073724	44073724	+	RNA	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:44073724G>T	ENST00000446874.1	-	0	388																											CCAGAGGCCCGATCTCGCAGT	0.622000													5	11					0.000602214	0.00330539	0.000602214	1	0
MYH9	4627	broad.mit.edu	37	22	36688143	36688143	+	Silent	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr22:36688143C>A	ENST00000216181.5	-	31	4463	c.4233G>T	c.(4231-4233)ctG>ctT	p.L1411L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1411					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGTCTTCTCCAGCTTGTCGT	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	75					6.40141e-05	0.00036225	0.000978159	1	0
AGK	55750	broad.mit.edu	37	7	141333766	141333766	+	Silent	SNP	C	C	T	rs144977618		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:141333766C>T	ENST00000355413.4	+	10	914	c.654C>T	c.(652-654)ggC>ggT	p.G218G	AGK_ENST00000535825.1_Silent_p.G215G|AGK_ENST00000473247.1_Silent_p.G190G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	218					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGATGCTGGCGTCAAAGTTA	0.368000													22	60					0	0	0.000720815	0	0
GLIS1	148979	broad.mit.edu	37	1	54060170	54060170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:54060170G>A	ENST00000312233.2	-	3	972	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	136					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CAGGCTTCAAGTTGCAAGCTG	0.667000													12	42					0	0	0.00185496	0	0
TTC23L	153657	broad.mit.edu	37	5	34864544	34864544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr5:34864544G>A	ENST00000505624.1	+	6	642	c.539G>A	c.(538-540)gGc>gAc	p.G180D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	180							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TATTTCACTGGCAGAGAAGCC	0.423000													6	105					0	0	0.00116845	0	0
FLNB	2317	broad.mit.edu	37	3	58120482	58120482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr3:58120482C>G	ENST00000357272.4	+	27	4819	c.4654C>G	c.(4654-4656)Ctt>Gtt	p.L1552V	FLNB_ENST00000295956.4_Missense_Mutation_p.L1552V|FLNB_ENST00000358537.3_Missense_Mutation_p.L1552V|FLNB_ENST00000429972.2_Missense_Mutation_p.L1552V|FLNB_ENST00000348383.5_Missense_Mutation_p.L1552V|FLNB_ENST00000493452.1_Missense_Mutation_p.L1383V|FLNB_ENST00000419752.2_Missense_Mutation_p.L1383V|FLNB_ENST00000490882.1_Missense_Mutation_p.L1583V			O75369	FLNB_HUMAN	filamin B, beta	1552					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGGCCTGCTTGCTGTTCA	0.473000													43	132					0	0	0.000680045	0	0
OBSL1	23363	broad.mit.edu	37	2	220419305	220419305	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:220419305C>T	ENST00000404537.1	-	15	4823	c.4767G>A	c.(4765-4767)tcG>tcA	p.S1589S	OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Silent_p.S1497S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1589					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGTGGCCGTCCGAGTGGATGT	0.642000													7	20					0	0	0.000157383	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963666	88963666	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:88963666G>C	ENST00000333190.4	+	4	1979	c.1370G>C	c.(1369-1371)tGg>tCg	p.W457S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	457						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTCTTCAATGGCCTACGGAA	0.418000										HNSCC(36;0.09)			12	63					0	0	0.00185496	0	0
PSD3	23362	broad.mit.edu	37	8	18725364	18725364	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr8:18725364C>T	ENST00000440756.2	-	4	1556	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	PSD3_ENST00000523619.1_Missense_Mutation_p.R420H|PSD3_ENST00000327040.8_Missense_Mutation_p.R485H			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	485					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.R485H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTTTAATGCGCTGTTGTAT	0.463000													45	154					0	0	0.000781405	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103573994	103573994	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr14:103573994C>T	ENST00000380069.3	+	9	1804	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	576										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGCACCGGTTCGTGGTCCGCG	0.697000													4	7					0	0	0.00024832	0	0
ATP7B	540	broad.mit.edu	37	13	52542595	52542595	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr13:52542595G>A	ENST00000242839.4	-	4	1848	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.G564G|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Silent_p.G564G|ATP7B_ENST00000400366.3_Silent_p.G453G|ATP7B_ENST00000418097.2_Silent_p.G564G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	564					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTCAATGTTGCCATCGGAGC	0.498000									Wilson disease				8	39					0	0	0.000157383	0	0
GNB1	2782	broad.mit.edu	37	1	1720641	1720641	+	Missense_Mutation	SNP	C	C	T	rs11554059		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:1720641C>T	ENST00000378609.4	-	10	1098	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	256					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CTGGTCAGCACGAAGGTCAAA	0.522000											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	30					0	0	0.00136819	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832944	101832944	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr11:101832944G>T	ENST00000263468.8	+	6	1448	c.1178G>T	c.(1177-1179)aGg>aTg	p.R393M	KIAA1377_ENST00000537689.1_Missense_Mutation_p.R194M	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	393							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)		AGCACTATGAGGACAACTGAC	0.388000													8	45					0.000274275	0.00151682	0.000274275	1	0
MEI1	150365	broad.mit.edu	37	22	42189908	42189908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr22:42189908G>C	ENST00000401548.3	+	27	3461	c.3421G>C	c.(3421-3423)Gac>Cac	p.D1141H	MEI1_ENST00000300398.4_Missense_Mutation_p.D149H|MEI1_ENST00000400107.1_Missense_Mutation_p.D474H|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1141							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCGGAGCCCAGACATTGGTAG	0.502000													5	13					0	0	0.00116845	0	0
OR5D18	219438	broad.mit.edu	37	11	55587492	55587492	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr11:55587492C>T	ENST00000333976.4	+	1	407	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCATTTGCAACCCTCTGCTCT	0.478000													44	159					0	0	0.00195071	0	0
RBL2	5934	broad.mit.edu	37	16	53524139	53524139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr16:53524139G>C	ENST00000262133.6	+	22	3484	c.3347G>C	c.(3346-3348)aGa>aCa	p.R1116T	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.R495T	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	1116					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTGCAAAAAGAATTTGCCCA	0.393000													21	49					0	0	0.00121646	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43953472	43953472	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:43953472A>T	ENST00000282406.4	+	17	2713	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	868	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATCTTGTGATTCAGATGAA	0.388000													10	44					0	0	0.000673444	0	0
FAM47A	158724	broad.mit.edu	37	X	34149003	34149003	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chrX:34149003C>T	ENST00000346193.3	-	1	1444	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	465										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCAGGGTTCCCCACAAGGG	0.602000													13	45					0	0	0.00136819	0	0
GRIK3	2899	broad.mit.edu	37	1	37271718	37271718	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:37271718G>A	ENST00000373091.3	-	14	2317	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	GRIK3_ENST00000373093.4_Silent_p.I767I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	767					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGGGCGTGCCGATGCCGTAGC	0.662000													13	53					0	0	0.00185496	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228943	118228943	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:118228943G>A	ENST00000360388.4	+	1	255	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	18					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CGCCAGCCCCGCCGAACCATG	0.746000													14	16					0	0	0.000566183	0	0
INPP5F	22876	broad.mit.edu	37	10	121582640	121582640	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr10:121582640G>C	ENST00000361976.2	+	18	2256	c.2090G>C	c.(2089-2091)aGa>aCa	p.R697T	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.R87T	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	697							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGCACTACAGATACAAAGAA	0.403000													3	58					0	0	6.4e-05	0	0
PER1	5187	broad.mit.edu	37	17	8053316	8053316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:8053316C>T	ENST00000317276.4	-	4	739	c.502G>A	c.(502-504)Gca>Aca	p.A168T	PER1_ENST00000354903.5_Missense_Mutation_p.A152T|PER1_ENST00000581082.1_Missense_Mutation_p.A168T	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	168					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGGCCAGTGCGTACTGCAGC	0.627000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					41	102					0	0	0.000437636	0	0
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTGAGTCCGCATGCCAATG	0.507000													7	282					0	0	0.000274275	0	0
USP29	57663	broad.mit.edu	37	19	57642405	57642405	+	Missense_Mutation	SNP	G	G	T	rs148519716		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:57642405G>T	ENST00000254181.4	+	4	2816	c.2362G>T	c.(2362-2364)Ggt>Tgt	p.G788C	USP29_ENST00000598197.1_Missense_Mutation_p.G788C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	788					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGGCACTGGGTTCTGACAA	0.458000													14	31					3.27435e-08	1.94331e-07	0.000219431	1	0
PHYHIPL	84457	broad.mit.edu	37	10	61005100	61005100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr10:61005100G>T	ENST00000373880.4	+	5	1144	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	PHYHIPL_ENST00000373878.3_Nonsense_Mutation_p.E268*	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	294										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						ACCAGGAGATGAATTTTGTAA	0.403000													19	55					9.95505e-16	6.26482e-15	0.000295444	1	0
QRICH2	84074	broad.mit.edu	37	17	74289852	74289852	+	Missense_Mutation	SNP	C	C	T	rs138229886		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:74289852C>T	ENST00000262765.5	-	4	637	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	153							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGCTTCATCACGGGCCCTCGG	0.542000													14	50					0	0	0.000422831	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308365	35308365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr11:35308365C>T	ENST00000278379.3	-	8	1507	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	SLC1A2_ENST00000395753.1_Missense_Mutation_p.A400T|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A400T|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A409T	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	409					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATAAAGATGGCGGCTACCGCT	0.468000													17	141					0	0	0.00074312	0	0
MYH7	4625	broad.mit.edu	37	14	23886750	23886750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr14:23886750C>T	ENST00000355349.3	-	31	4477	c.4315G>A	c.(4315-4317)Gct>Act	p.A1439T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1439					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGCTGCAGCAGCAGCATTG	0.602000													17	86					0	0	0.000566183	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999913	112999913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:112999913C>T	ENST00000271277.6	+	6	2024	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I	CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	600						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		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)		ACTCCATTGACCAAAACTCAT	0.522000													10	79					0	0	0.000442599	0	0
AQP10	89872	broad.mit.edu	37	1	154295468	154295468	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:154295468G>A	ENST00000484864.1	+	3	279	c.243G>A	c.(241-243)ctG>ctA	p.L81L	AQP10_ENST00000324978.3_Silent_p.L81L|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	81					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGCCCACCTGAATCCAGCCT	0.507000													25	74					0	0	0.00047179	0	0
GTF2I	2969	broad.mit.edu	37	7	74105332	74105332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:74105332G>A	ENST00000324896.4	+	3	516	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.E43K|GTF2I_ENST00000416070.1_Missense_Mutation_p.E43K|GTF2I_ENST00000443166.1_Missense_Mutation_p.E43K|GTF2I_ENST00000353920.4_Missense_Mutation_p.E43K	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	43					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GTCCAAAGCCGAAGTGGCCTG	0.408000													43	126					0	0	0.000589545	0	0
RGS21	431704	broad.mit.edu	37	1	192335209	192335209	+	Silent	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:192335209T>C	ENST00000417209.2	+	5	588	c.414T>C	c.(412-414)aaT>aaC	p.N138N		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	138					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AACTGGTAAATAGCCAACAGG	0.333000													13	46					0	0	0.00136819	0	0
MBOAT1	154141	broad.mit.edu	37	6	20124638	20124638	+	Splice_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:20124638C>T	ENST00000541730.1	-	7	1056		c.e7+1		MBOAT1_ENST00000324607.7_Splice_Site			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1						phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATCAAACTTACCTAATGTCCA	0.428000													12	45					0	0	0.000978159	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414331	213414331	+	Silent	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:213414331A>C	ENST00000366960.3	+	11	1662	c.1512A>C	c.(1510-1512)tcA>tcC	p.S504S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.S492S|RPS6KC1_ENST00000543354.1_Silent_p.S207S|RPS6KC1_ENST00000543470.1_Silent_p.S292S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	504					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCAAGTTCAGAAGAAGAAT	0.408000													15	35					0	0	0.000422831	0	0
ABCA3	21	broad.mit.edu	37	16	2347779	2347779	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr16:2347779G>A	ENST00000301732.5	-	16	2740	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	ABCA3_ENST00000382381.3_Silent_p.I622I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	680	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TGGAGCCTGCGATGAGGGCGA	0.662000													10	54					0	0	0.000978159	0	0
KRT35	3886	broad.mit.edu	37	17	39635675	39635675	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:39635675A>C	ENST00000246639.2	-	3	677	c.545T>G	c.(544-546)cTg>cGg	p.L182R	KRT35_ENST00000393989.1_Missense_Mutation_p.L212R			Q92764	KRT35_HUMAN	keratin 35	212	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGACTTGCACAGGGTCAGGTC	0.597000													18	82					0	0	0.00074312	0	0
RS1	6247	broad.mit.edu	37	X	18662590	18662590	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chrX:18662590A>C	ENST00000379984.3	-	5	522	c.482T>G	c.(481-483)cTg>cGg	p.L161R	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	161	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AATCCAGTTCAGGCGCTCATC	0.532000													6	95					0	0	0.000157383	0	0
PRR12	57479	broad.mit.edu	37	19	50102549	50102549	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:50102549G>A	ENST00000418929.2	+	5	3711	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	412							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGTGCCCAAGGCTGGCGAGG	0.617000													6	22					0	0	0.00116845	0	0
MEF2C	4208	broad.mit.edu	37	5	88056848	88056848	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr5:88056848A>T	ENST00000340208.5	-	6	818	c.413T>A	c.(412-414)aTt>aAt	p.I138N	MEF2C_ENST00000424173.2_Missense_Mutation_p.I118N|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000504921.2_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000437473.2_Intron	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	120					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TTCTTCATTAATTTTTTTGTA	0.398000										HNSCC(66;0.2)			5	93					0	0	0.000602214	0	0
FBXO8	26269	broad.mit.edu	37	4	175158632	175158632	+	Missense_Mutation	SNP	T	T	A	rs148818503		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr4:175158632T>A	ENST00000393674.2	-	6	1753	c.891A>T	c.(889-891)caA>caT	p.Q297H	FBXO8_ENST00000503293.1_Missense_Mutation_p.Q256H	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	297					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CACTAATATTTTGAGCAGCGC	0.378000													19	58					0	0	0.00152264	0	0
NOD2	64127	broad.mit.edu	37	16	50745602	50745602	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr16:50745602G>A	ENST00000300589.2	+	4	1885	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	594	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTCGTGCCAGGGAGTACGGC	0.577000													10	26					0	0	0.000673444	0	0
OR1E2	8388	broad.mit.edu	37	17	3336564	3336564	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:3336564G>T	ENST00000248384.1	-	1	571	c.572C>A	c.(571-573)tCt>tAt	p.S191Y		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	191					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						CAGCAGAGCAGACATATCACA	0.468000													18	27					4.75885e-15	2.9692e-14	0.000566183	1	0
KRT37	8688	broad.mit.edu	37	17	39580482	39580482	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:39580482G>A	ENST00000225550.3	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	98	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CATTCAGGGTGTTTTTGCCGT	0.582000													21	68					0	0	0.00121646	0	0
TMEM187	8269	broad.mit.edu	37	X	153247752	153247752	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chrX:153247752T>C	ENST00000369982.4	+	2	986	c.239T>C	c.(238-240)cTg>cCg	p.L80P		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	80						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGATGGGGCTGGGTCCCCGC	0.692000													7	24					0	0	0.000157383	0	0
NEIL2	252969	broad.mit.edu	37	8	11637389	11637389	+	Missense_Mutation	SNP	G	G	A	rs113905789		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr8:11637389G>A	ENST00000284503.6	+	3	1020	c.421G>A	c.(421-423)Gtt>Att	p.V141I	NEIL2_ENST00000436750.3_Missense_Mutation_p.V141I|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000403422.3_Missense_Mutation_p.V80I|NEIL2_ENST00000455213.2_Missense_Mutation_p.V141I	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	141					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GTTTGGCAGCGTTTGGGTGAA	0.572000								Base excision repair (BER), DNA glycosylases					34	75					0	0	0.00128727	0	0
THSD4	79875	broad.mit.edu	37	15	72039251	72039251	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr15:72039251G>T	ENST00000355327.3	+	13	2245	c.2111G>T	c.(2110-2112)cGc>cTc	p.R704L	THSD4_ENST00000357769.4_Missense_Mutation_p.R344L|THSD4_ENST00000261862.6_Missense_Mutation_p.R704L|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	704	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTCTGTGCCGCCAGGTGTAC	0.627000													13	27					1.3612e-06	7.88634e-06	0.000308642	1	0
SLC38A8	146167	broad.mit.edu	37	16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622000													15	55					0	0	0.000308642	0	0
PDE1B	5153	broad.mit.edu	37	12	54968993	54968993	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:54968993C>G	ENST00000243052.3	+	11	1612	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	PDE1B_ENST00000550620.1_Missense_Mutation_p.F372L|PDE1B_ENST00000538346.1_Missense_Mutation_p.F351L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	392	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGGAGGAATTCTTCCGTCAGG	0.577000													27	85					0	0	0.00127121	0	0
SLC4A11	83959	broad.mit.edu	37	20	3208447	3208447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr20:3208447C>T	ENST00000380059.3	-	20	2844	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	SLC4A11_ENST00000539553.1_Missense_Mutation_p.E872K|SLC4A11_ENST00000380056.3_Missense_Mutation_p.E888K|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	888					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCCTGTGCTCAGCGTCCATG	0.612000													11	38					0	0	0.00136819	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49288750	49288750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr15:49288750C>T	ENST00000559471.1	-	17	2700	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E768K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	813										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCCTGGCCTCCTCAGTGAGT	0.368000													55	192					0	0	0.000781405	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120291479	120291479	+	Missense_Mutation	SNP	G	G	A	rs34754222		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr11:120291479G>A	ENST00000397843.2	+	5	383	c.217G>A	c.(217-219)Gta>Ata	p.V73I	ARHGEF12_ENST00000532993.1_5'UTR|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V54I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	73	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCAGCGTTGCGTAATCATCCA	0.383000			T	MLL	AML								23	48					0	0	0.000720815	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771490	150771490	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:150771490G>A	ENST00000485713.1	+	18	3835	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918Q|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923Q|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850Q|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932Q	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTCAGATCCGGCGGGTGATT	0.597000													35	98					0	0	0.000814825	0	0
CDH12	1010	broad.mit.edu	37	5	21817158	21817158	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr5:21817158G>T	ENST00000382254.1	-	9	1984	c.898C>A	c.(898-900)Caa>Aaa	p.Q300K	CDH12_ENST00000522262.1_Missense_Mutation_p.Q260K|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.Q300K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	300	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGCATTTTGTCCAAAATCA	0.388000										HNSCC(59;0.17)			14	87					3.27435e-08	1.94331e-07	0.000219431	1	0
CREBBP	1387	broad.mit.edu	37	16	3778424	3778424	+	Silent	SNP	T	T	C	rs142545779	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr16:3778424T>C	ENST00000262367.5	-	31	7433	c.6624A>G	c.(6622-6624)caA>caG	p.Q2208Q	CREBBP_ENST00000382070.3_Silent_p.Q2170Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2208	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Q2208H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gttgctgctgttgttgctgct	0.617000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	32					0	0	0.00116845	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28120928	28120928	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:28120928C>T	ENST00000330236.6	+	6	1054	c.870C>T	c.(868-870)aaC>aaT	p.N290N	ZKSCAN8_ENST00000457389.2_Silent_p.N290N	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																		CCAAATGCAACGGGGATGTTA	0.493000													19	36					0	0	0.00074312	0	0
PRKACA	5566	broad.mit.edu	37	19	14213716	14213716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:14213716A>G	ENST00000308677.4	-	4	444	c.248T>C	c.(247-249)cTg>cCg	p.L83P	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.L75P	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	83	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTGTTTCAGTTTCACCAC	0.562000													23	81					0	0	0.000295444	0	0
RAET1K	646024	broad.mit.edu	37	6	150322076	150322076	+	RNA	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:150322076C>T	ENST00000533735.1	-	0	800					NR_024045.1																						TGGAAGAACACGGTCACCTCC	0.433000													6	21					0	0	8.12818e-05	0	0
ZNF174	7727	broad.mit.edu	37	16	3452371	3452371	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr16:3452371G>T	ENST00000268655.4	+	1	952	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	ZNF174_ENST00000344823.5_Missense_Mutation_p.D123Y|ZNF174_ENST00000572544.1_Missense_Mutation_p.D123Y|ZNF174_ENST00000571936.1_Missense_Mutation_p.D123Y|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Missense_Mutation_p.D123Y	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	123	SCAN box.				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCGTGGAAGATTTTCACAG	0.488000													20	50					1.55795e-14	9.63814e-14	0.00188189	1	0
CTNNAL1	8727	broad.mit.edu	37	9	111745573	111745573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr9:111745573C>T	ENST00000374595.4	-	6	831	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.C251Y|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.C251Y			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	251					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGCTGATTCGCAGTTAGGATG	0.338000													10	41					0	0	0.000673444	0	0
PAX4	5078	broad.mit.edu	37	7	127253563	127253563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr7:127253563C>T	ENST00000341640.2	-	5	767	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PAX4_ENST00000378740.2_Missense_Mutation_p.D188N|PAX4_ENST00000338516.3_Missense_Mutation_p.D196N|PAX4_ENST00000463946.1_Missense_Mutation_p.D186N	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	196					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTGAATCAGGATACTGC	0.577000													15	55					0	0	0.000308642	0	0
ESPL1	9700	broad.mit.edu	37	12	53671305	53671305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:53671305G>A	ENST00000257934.4	+	10	2228	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E713K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	713					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGGAATTTGAAGTCAATGA	0.502000													16	38					0	0	0.000422831	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	79					0	0	0.000602214	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682402	69682402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr4:69682402G>C	ENST00000265403.7	+	1	692	c.665G>C	c.(664-666)tGg>tCg	p.W222S	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	222					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTGACTTTTGGTTCCAAATA	0.313000													17	65					0	0	0.000958276	0	0
IGHG3	3502	broad.mit.edu	37	14	106236201	106236201	+	RNA	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr14:106236201C>T	ENST00000390551.2	-	0	602																											AACTGGACCTCGGGGTCTTCG	0.587000													38	116					0	0	0.00148497	0	0
ABCC9	10060	broad.mit.edu	37	12	21981956	21981956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr12:21981956G>A	ENST00000261200.4	-	29	3604	c.3605C>T	c.(3604-3606)aCg>aTg	p.T1202M	ABCC9_ENST00000261201.4_Missense_Mutation_p.T1202M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T1166M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1202	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.L1201fs*33(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTGTATCCGTCAGTTCCAG	0.413000													19	95					0	0	0.000958276	0	0
AC112229.4	0	broad.mit.edu	37	2	111144800	111144800	+	RNA	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:111144800G>A	ENST00000606848.1	-	0	940																											CTACTGATGCGACGCAGGGTT	0.587000													4	25					0	0	0.000602214	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	130					0	0	6.4e-05	0	0
OR4D6	219983	broad.mit.edu	37	11	59225310	59225310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr11:59225310G>A	ENST00000300127.2	+	1	900	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GAGAAATCAAGAGATGAAGTC	0.522000													44	117					0	0	0.000781405	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190619979	190619982	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:190619979_190619982delACAG	ENST00000519810.1	-	4	868_871	c.526_529delCTGT	c.(526-531)tgfs	p.LL176fs	OSGEPL1_ENST00000264151.5_Frame_Shift_Del_p.LL176fs|OSGEPL1_ENST00000522700.1_Frame_Shift_Del_p.LL176fs			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	176					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACTAATGCCAACAGACAGTGACCT	0.368													19	84	---	---	---	---					
OSGEPL1	64172	broad.mit.edu	37	2	190619979	190619982	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr2:190619979_190619982delACAG	ENST00000519810.1	-	4	868_871	c.526_529delCTGT	c.(526-531)tgfs	p.LL176fs	OSGEPL1_ENST00000264151.5_Frame_Shift_Del_p.LL176fs|OSGEPL1_ENST00000522700.1_Frame_Shift_Del_p.LL176fs			Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	176					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACTAATGCCAACAGACAGTGACCT	0.368													19	84	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													7	628	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													2	4	---	---	---	---					
SOBP	55084	broad.mit.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cag>ca	p.QP744del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	744	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749													3	5	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	b816cd3e-1589-428c-8bf6-fd5cc32bf3a0	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													6	5	---	---	---	---