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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HELZ	9931	broad.mit.edu	37	17	65074431	65074431	+	Silent	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:65074431G>A	uc010wqk.2	-	32	5956	c.5769C>T	c.(5767-5769)ctC>ctT	p.L1923L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.L1922L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTTCCTGGAAGAGAGACAGAG	0.522000														76			32		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23387095	23387095	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr16:23387095C>T	uc002dln.3	+	7	1365	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	397					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCACATGATCCGTAACTGCAA	0.597000														121			36		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	33985175	33985175	+	Silent	SNP	T	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:33985175T>A	uc001bxm.1	-	69	11016	c.10839A>T	c.(10837-10839)acA>acT	p.T3613T	CSMD2_uc001bxn.1_Silent_p.T3469T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3469						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATGATGTCTGTGGGCTGGA	0.592000														131			78		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	24659	24659	+	RNA	SNP	C	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chrGL000241.1:24659C>G	uc011mgv.2	-	4		c.554G>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GATAATTTGACAGCCGTAAAC	0.289000														40			11		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642653	37642653	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr19:37642653C>A	uc002ofo.1	-	4	2379	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	ZNF585A_uc002ofm.1_Missense_Mutation_p.K661N|ZNF585A_uc002ofn.1_Missense_Mutation_p.K661N	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	716					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACACGTAAGGCTTCTCTCCAG	0.453000														41			35		2.40579e-17	2.5246e-17	1	1	0
LETMD1	25875	broad.mit.edu	37	12	51450186	51450186	+	Silent	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:51450186G>A	uc009zlw.3	+	6	913	c.855G>A	c.(853-855)ttG>ttA	p.L285L	LETMD1_uc010smz.2_Silent_p.L222L|LETMD1_uc010sna.2_Missense_Mutation_p.E110K|LETMD1_uc001rxm.3_Silent_p.L272L|LETMD1_uc001rxn.3_Silent_p.L115L|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Silent_p.L216L|LETMD1_uc001rxt.3_Silent_p.L12L	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	272	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CTCCCTTGTTGAGACATCGTT	0.493000														81			62		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118680	118680	+	RNA	SNP	T	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chrGL000205.1:118680T>C	uc002kgk.4	+	0		c.2058T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGTGATTTATTAACGCCCAA	0.378000														10			2		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596191	179596191	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr2:179596191C>T	uc021vsy.1	-	55	13795	c.13570G>A	c.(13570-13572)Gat>Aat	p.D4524N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1185N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5451	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4523K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATTTCATCGCTGTCTTTT	0.483000														64			5		0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310247	22310247	+	Silent	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:22310247C>T	uc001bfk.3	+	4	538	c.423C>T	c.(421-423)ctC>ctT	p.L141L	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	141	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCGTCCAGCTCGCCTCACTCC	0.632000														67			29		0	0	1	0	0
CTSC	1075	broad.mit.edu	37	11	88045694	88045694	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr11:88045694G>C	uc001pck.4	-	2	448	c.347C>G	c.(346-348)aCt>aGt	p.T116S	CTSC_uc001pcl.4_5'UTR	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	116					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTGCAGTAAGTGGTCACCTT	0.458000														144			95		0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90023966	90023966	+	Silent	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr16:90023966G>A	uc002fpn.2	+	4	586	c.453G>A	c.(451-453)gaG>gaA	p.E151E	DEF8_uc021tmu.1_Silent_p.E90E|DEF8_uc002fpl.3_Silent_p.E90E|DEF8_uc002fpm.3_Silent_p.E90E|DEF8_uc002fpo.2_Silent_p.E90E|DEF8_uc002fpp.2_Silent_p.E80E|DEF8_uc021tmv.1_Silent_p.E90E|DEF8_uc010vpq.2_Silent_p.E30E|DEF8_uc010vpr.2_Silent_p.E90E	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	151					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGGCGATCGAGGAGTGCAAGC	0.647000														8			4		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2718194	2718194	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr18:2718194C>T	uc002klm.4	+	17	2488	c.2299C>T	c.(2299-2301)Caa>Taa	p.Q767*	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	767					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCATATTAGTCAACATGGAGG	0.284000														23			16		0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190874221	190874221	+	Splice_Site	SNP	A	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr4:190874221A>G	uc003izs.3	+	4	451	c.260_splice	c.e4-2	p.V87_splice		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	87					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTCTCCAATAGTTGATGAGG	0.294000														20			3		0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4117677	4117677	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr6:4117677C>G	uc003mwf.3	-	8	931	c.894G>C	c.(892-894)gaG>gaC	p.E298D	C6orf201_uc003mwa.4_Intron|C6orf201_uc003mvz.4_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.4_Intron|ECI2_uc021yku.1_Missense_Mutation_p.E268D|ECI2_uc003mwc.3_Missense_Mutation_p.E126D|ECI2_uc003mwd.3_Missense_Mutation_p.E268D|ECI2_uc003mwe.3_Missense_Mutation_p.E145D|ECI2_uc010jnr.1_Non-coding_Transcript	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	298	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AAATAAGCATCTCTGTTGCCT	0.393000														49			27		0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61034625	61034625	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr13:61034625G>A	uc001vhz.4	+	3	813	c.25G>A	c.(25-27)Ggt>Agt	p.G9S	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001via.3_Missense_Mutation_p.G9S|TDRD3_uc010aeg.3_Missense_Mutation_p.G102S|TDRD3_uc001vib.4_Missense_Mutation_p.G9S	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	9					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GATGACTGATGGTCATATAAG	0.358000														74			17		0	0	1	0	0
AK309922	0	broad.mit.edu	37	10	49313245	49313245	+	RNA	SNP	C	T	T	rs2270911		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr10:49313245C>T	uc009xny.1	-	2		c.471G>A								Homo sapiens cDNA, FLJ99963.																		GCAGCCTCCTCATCCTCACTG	0.488000														8			5		0	0	1	0	0
SSU72	29101	broad.mit.edu	37	1	1480325	1480325	+	Silent	SNP	C	T	T	rs138912153		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:1480325C>T	uc001agd.3	-	2	607	c.282G>A	c.(280-282)cgG>cgA	p.R94R	SSU72_uc009vkg.1_Silent_p.R94R	NM_014188	NP_054907	Q9NP77	SSU72_HUMAN	Homo sapiens SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) (SSU72), mRNA.	94					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		ATCTTTCTGGCCGGGGCTTGA	0.478000														109			64		0	0	1	0	0
ALDH3A2	224	broad.mit.edu	37	17	19566808	19566808	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:19566808A>G	uc002gwa.1	+	6	1324	c.1103A>G	c.(1102-1104)cAt>cGt	p.H368R	ALDH3A2_uc002gwb.1_Missense_Mutation_p.H368R|ALDH3A2_uc010cqr.1_Missense_Mutation_p.H175R|ALDH3A2_uc002gwd.1_Missense_Mutation_p.H175R	NM_001031806	NP_001026976	P51648	AL3A2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A2 (ALDH3A2), transcript variant 1, mRNA.	368					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TCGCATAACCATAAGGTAAGC	0.358000														42			33		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124487860	124487860	+	Splice_Site	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr3:124487860C>T	uc003eho.3	-	12	2314	c.2017_splice	c.e12+1	p.V673_splice	ITGB5_uc010hrx.3_Splice_Site	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	673					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GCACACTCACCGATGGTGTCC	0.587000														60			28		0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88284416	88284416	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr9:88284416T>G	uc011lte.2	-	6	869	c.802A>C	c.(802-804)Aat>Cat	p.N268H	AGTPBP1_uc011ltc.2_Missense_Mutation_p.N114H|AGTPBP1_uc011ltd.2_Missense_Mutation_p.N216H|AGTPBP1_uc010mqc.3_Missense_Mutation_p.N216H	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	216					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AGACTGGAATTCTTCTTACTA	0.368000														34			23		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72172105	72172105	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr15:72172105T>C	uc002atl.4	-	29	6169	c.5696A>G	c.(5695-5697)gAa>gGa	p.E1899G	MYO9A_uc002atk.3_Missense_Mutation_p.E694G|MYO9A_uc002atm.1_Missense_Mutation_p.E695G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1899	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGCCGAAATTCCTTCAGGGC	0.363000														38			33		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52921812	52921812	+	Silent	SNP	A	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr18:52921812A>G	uc002lga.3	-	15	1632	c.1572T>C	c.(1570-1572)atT>atC	p.I524I	TCF4_uc021ukg.1_Silent_p.I262I|TCF4_uc021ukh.1_Silent_p.I262I|TCF4_uc002lfw.4_Silent_p.I262I|TCF4_uc010xdu.1_Silent_p.I292I|TCF4_uc010xdv.1_Silent_p.I292I|TCF4_uc021uki.1_Silent_p.I351I|TCF4_uc002lfx.2_Silent_p.I351I|TCF4_uc010xdw.1_Silent_p.I292I|TCF4_uc002lfy.2_Silent_p.I380I|TCF4_uc010xdx.1_Silent_p.I398I|TCF4_uc021ukj.1_Silent_p.I362I|TCF4_uc021ukk.1_Silent_p.I362I|TCF4_uc021ukl.1_Silent_p.I419I|TCF4_uc002lfz.2_Silent_p.I422I|TCF4_uc010dph.1_Silent_p.I422I|TCF4_uc010dpi.3_Silent_p.I428I|TCF4_uc010xdy.1_Silent_p.I398I	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	422					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAGAAGGTCCAATGATTCCAT	0.493000														28			20		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23759922	23759922	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:23759922T>A	uc001bha.2	-	20	2247	c.2123A>T	c.(2122-2124)gAg>gTg	p.E708V	ASAP3_uc001bgy.1_Missense_Mutation_p.E212V|ASAP3_uc010odz.1_Missense_Mutation_p.E577V|ASAP3_uc010oea.1_Missense_Mutation_p.E699V	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	708					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.E707G(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						ACCCACCTTCTCTTCCTCATC	0.622000														38			44		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8176328	8176328	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr8:8176328C>T	uc003wsh.4	-	4	3557	c.3557G>A	c.(3556-3558)gGc>gAc	p.G1186D		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1186	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTGAGAGTGCCACCAGCAGG	0.766000														9			4		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50903300	50903300	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr22:50903300G>A	uc003blh.3	-	12	1574	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	SBF1_uc011arx.2_Missense_Mutation_p.P124L|SBF1_uc003bli.2_Missense_Mutation_p.P461L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	460					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GACACGCTGGGGGTGGTTCTC	0.642000														42			23		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51102296	51102296	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:51102296C>A	uc001rwv.3	+	21	2756	c.2600C>A	c.(2599-2601)cCt>cAt	p.P867H	DIP2B_uc009zlt.3_Missense_Mutation_p.P297H	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	867						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GAACAAAGACCTGATGCTTCT	0.502000														4			7		3.09899e-07	3.13588e-07	1	1	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														12			4		0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55062905	55062905	+	RNA	SNP	C	T	T	rs12577269	by1000genomes	TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr11:55062905C>T	uc021qjb.1	-	2		c.733G>A			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		CGTGAATCTTCATCATCATGA	0.413000														33			3		0	0	1	0	0
S100A3	6274	broad.mit.edu	37	1	153520171	153520171	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:153520171G>C	uc001fca.1	-	2	376	c.293C>G	c.(292-294)cCc>cGc	p.P98R	S100A4_uc001fby.3_5'Flank|S100A4_uc001fbz.3_5'Flank|AK307246_uc009wog.1_Intron	NM_002960	NP_002951	P33764	S10A3_HUMAN	Homo sapiens S100 calcium binding protein A3 (S100A3), mRNA.	98							calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGGAGCAGGGGGGCTCTGA	0.612000														47			44		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32813531	32813531	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr6:32813531C>G	uc003ocg.3	-	10	2407	c.2252G>C	c.(2251-2253)cGg>cCg	p.R751P	PSMB8_uc003oce.3_5'Flank|PSMB8_uc003ocf.3_5'Flank|PSMB8_uc011dqh.2_5'Flank|LOC100507463_uc021ywa.1_Non-coding_Transcript|LOC100507463_uc021ywb.1_Non-coding_Transcript|LOC100507463_uc021ywc.1_Non-coding_Transcript|LOC100507463_uc021ywd.1_Non-coding_Transcript|TAP1_uc011dqi.2_Missense_Mutation_p.R490P	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	751	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GCGGGAGTACCGCTCAGGGCT	0.617000														38			3		0	0	1	0	0
TMEM204	79652	broad.mit.edu	37	16	1604905	1604905	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr16:1604905A>T	uc002cmc.2	+	3	957	c.559A>T	c.(559-561)Atc>Ttc	p.I187F	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.I187F|TMEM204_uc010brr.1_Missense_Mutation_p.I187F|BC114455_uc010brs.1_5'Flank	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	187					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				AGCCATGCTCATCTGGAACAT	0.597000														53			22		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807787	1807787	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr4:1807787A>G	uc003gdr.3	+	13	2102	c.1846A>G	c.(1846-1848)Agg>Ggg	p.R616G	FGFR3_uc003gdu.2_Missense_Mutation_p.R618G|FGFR3_uc003gds.3_Missense_Mutation_p.R504G|FGFR3_uc003gdq.3_Missense_Mutation_p.R617G	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	616	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GTGCATCCACAGGGACCTGGC	0.642000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					14			10		0	0	1	0	0
ZNF346	23567	broad.mit.edu	37	5	176471535	176471535	+	Splice_Site	SNP	G	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:176471535G>C	uc003mfk.1	+	5	635	c.592_splice	c.e5+1	p.A198_splice	ZNF346_uc003mfi.3_Splice_Site_p.A173_splice|ZNF346_uc011dfr.2_Splice_Site_p.A141_splice|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	173						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGGTGGAAGGTACTGGTTTT	0.552000														49			26		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171482181	171482181	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:171482181C>G	uc010pmg.2	+	2	420	c.154C>G	c.(154-156)Cgg>Ggg	p.R52G	PRRC2C_uc001ghq.1_Missense_Mutation_p.R54G|PRRC2C_uc001ghr.1_Missense_Mutation_p.R54G	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	52							protein C-terminus binding										CGGTATTTCACGGCGTATGCC	0.403000														30			17		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131953819	131953819	+	Silent	SNP	A	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:131953819A>G	uc003kxi.3	+	20	3623	c.3222A>G	c.(3220-3222)gcA>gcG	p.A1074A	RAD50_uc003kxh.3_Silent_p.A935A	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	1074					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAATTTGGCATTAGGGCGAC	0.318000								Homologous recombination						111			90		0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131597888	131597888	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr9:131597888T>A	uc004bwh.3	-	9	1099	c.914A>T	c.(913-915)tAc>tTc	p.Y305F	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.Y305F|CCBL1_uc004bwj.3_Missense_Mutation_p.Y255F|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.Y399F	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	305					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CTGCACAAAGTAGCTGCTGGG	0.597000														32			20		0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11600049	11600049	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr3:11600049G>A	uc010hdx.1	-	4	1278	c.872C>T	c.(871-873)tCc>tTc	p.S291F	VGLL4_uc003bwf.2_Missense_Mutation_p.S285F|VGLL4_uc003bwg.2_Missense_Mutation_p.S290F|VGLL4_uc010hdv.1_Missense_Mutation_p.S201F|VGLL4_uc010hdw.1_Missense_Mutation_p.S205F|VGLL4_uc011aun.1_Missense_Mutation_p.S226F	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CACAGAGGGGGAGTGACTGTG	0.572000														67			16		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36104756	36104756	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr14:36104756G>C	uc001wtj.3	-	30	4598	c.4207C>G	c.(4207-4209)Cct>Gct	p.P1403A	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.P1403A|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P1416A|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1450A	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1403	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTCTTTAGAGGTAAGGCCATG	0.363000														14			12		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117618867	117618867	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:117618867C>G	uc001egy.3	+	5	1361	c.1341C>G	c.(1339-1341)atC>atG	p.I447M	TTF2_uc001egx.1_Missense_Mutation_p.I447M	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	447					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAAACAAATCCAGGAGCTGG	0.478000														26			16		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857570	29857570	+	Missense_Mutation	SNP	G	A	A	rs114672399	by1000genomes	TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr6:29857570G>A	uc021ytx.1	+	1	364	c.346G>A	c.(346-348)Gct>Act	p.A116T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		AGCTGTGGTCGCTGCTGTAAT	0.557000														26			3		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058651	133058651	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr10:133058651C>T	uc001lkp.3	-	3	813	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	243	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gcggcggcggcggtggcgatg	0.677000														5			2		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40405590	40405590	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr2:40405590T>C	uc002rrx.3	-	1	1876	c.1852A>G	c.(1852-1854)Aaa>Gaa	p.K618E	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.K618E|SLC8A1_uc002rsb.2_Intron|SLC8A1_uc002rrz.3_Intron|SLC8A1_uc002rsa.3_Intron|SLC8A1_uc002rsd.4_Intron	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	618	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCTTGTTTTTCTCATACTCC	0.468000														107			94		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714436	55714436	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:55714436A>G	uc010spi.2	+	0	53	c.53A>G	c.(52-54)gAc>gGc	p.D18G		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAACAGATGACCCAAATTTT	0.413000														59			32		0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	406346	406346	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr11:406346T>C	uc001lpg.3	-	7	1225	c.1072A>G	c.(1072-1074)Atg>Gtg	p.M358V	SIGIRR_uc001lpd.2_Intron|SIGIRR_uc001lpf.2_Intron|SIGIRR_uc001lpe.1_Intron			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	358					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGCGGGCATACCCAGGTCG	0.687000														19			14		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104158555	104158555	+	Missense_Mutation	SNP	G	A	A	rs45580031		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr10:104158555G>A	uc001kvb.3	+	11	1316	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	NFKB2_uc001kva.3_Missense_Mutation_p.G351R|NFKB2_uc010qqk.1_Missense_Mutation_p.G351R|NFKB2_uc001kvd.3_Missense_Mutation_p.G351R|NFKB2_uc009xxc.3_Missense_Mutation_p.G351R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	351	GRR.|Gly-rich.		G -> R (in dbSNP:rs45580031).		MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CCAGCCCTTCGGGGGTGGCTC	0.627000			T	IGH@	B-NHL									16			14		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	106967781	106967781	+	Silent	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr4:106967781G>A	uc010ilv.2	-	25	2993	c.2628C>T	c.(2626-2628)ggC>ggT	p.G876G	TBCK_uc003hyb.2_Silent_p.G619G|TBCK_uc003hye.2_Silent_p.G837G|TBCK_uc003hyc.2_Silent_p.G813G|TBCK_uc003hyd.2_Silent_p.G704G|TBCK_uc003hyf.2_Silent_p.G876G	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	876	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TTTTATTAATGCCACCATCTA	0.393000														24			13		0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156706431	156706431	+	Silent	SNP	T	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:156706431T>C	uc001fpu.3	+	7	1948	c.1314T>C	c.(1312-1314)caT>caC	p.H438H	RRNAD1_uc001fpv.3_Missense_Mutation_p.C277R	NM_015997	NP_057081	Q96FB5	RRNAD_HUMAN	Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA.	438						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	p.F437I(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CAGGTTTCCATGCTGAGCTCC	0.532000														69			44		0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48049436	48049436	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr2:48049436A>C	uc002rwe.3	-	12	1696	c.1623T>G	c.(1621-1623)aaT>aaG	p.N541K	FBXO11_uc010fbl.3_Missense_Mutation_p.N457K|FBXO11_uc002rwg.2_Missense_Mutation_p.N541K|FBXO11_uc010fbk.3_5'UTR|FBXO11_uc021vhe.1_Missense_Mutation_p.N341K	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	541					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAATATAGAATTTCCCCTAT	0.343000			"""Mis, F, D"""		DLBCL									33			16		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171754	34171754	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:34171754G>A	uc002hkd.3	+	14	1537	c.1451G>A	c.(1450-1452)gGt>gAt	p.G484D	TAF15_uc002hkc.3_Missense_Mutation_p.G481D	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	484	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggagatcgaggtggctatgga	0.617000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									14			13		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000														15			3		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631555	76631555	+	RNA	SNP	C	T	T	rs61737188	by1000genomes	TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr7:76631555C>T	uc011kgn.1	+	3		c.696C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.P21S(1)									GGCAATCGGGCCCCTGGCTGT	0.607000														53			6		0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1849335	1849335	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:1849335G>T	uc001aij.2	-	4	652	c.616C>A	c.(616-618)Cct>Act	p.P206T	TMEM52_uc001aii.2_Missense_Mutation_p.P191T	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	206						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	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;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGGCACCAGGGCTACAAGGT	0.617000														82			44		1.00776e-21	1.0982e-21	1	1	0
ZNF93	81931	broad.mit.edu	37	19	20044771	20044771	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr19:20044771C>T	uc002non.3	+	3	1183	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	336						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T336A(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGAATTCATACTGGAGAGAAA	0.378000														28			19		0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79687107	79687107	+	Nonstop_Mutation	SNP	A	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:79687107A>C	uc010wut.2	+	14	1461	c.1329A>C	c.(1327-1329)tgA>tgC	p.*443C	SLC25A10_uc002kbi.3_Nonstop_Mutation_p.*288C|SLC25A10_uc010dif.3_Nonstop_Mutation_p.*297C|SLC25A10_uc010wuu.2_Nonstop_Mutation_p.*242C	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	p.*288C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGCCATCCTGACCAGCCGTGG	0.607000														59			10		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056220	9056220	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr19:9056220G>C	uc002mkp.3	-	2	31430	c.31226C>G	c.(31225-31227)aCa>aGa	p.T10409R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10411	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGTCACTGTTCCCAGCTC	0.473000														119			73		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701717	17701717	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr17:17701717G>A	uc002grm.3	+	2	5924	c.5455G>A	c.(5455-5457)Gcc>Acc	p.A1819T	RAI1_uc002grn.1_Missense_Mutation_p.A1819T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1819						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGCGGGGAGGCCCAGGAGCA	0.692000														8			15		0	0	1	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384849	48384849	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr4:48384849T>A	uc003gya.4	+	4	1271	c.1127T>A	c.(1126-1128)gTg>gAg	p.V376E	SLAIN2_uc003gyb.1_Missense_Mutation_p.V46E	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	376						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TATAGTAGAGTGTCCCCACAG	0.473000														22			20		0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610483	78610483	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:78610483C>T	uc003kfx.4	+	8	3017	c.2468C>T	c.(2467-2469)cCa>cTa	p.P823L	JMY_uc003kfw.1_Missense_Mutation_p.P469L	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	823	Pro-rich.				'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		cccccaccaccaccacctcTG	0.547000														10			7		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37642652	37642652	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr19:37642652G>T	uc002ofo.1	-	4	2380	c.2149C>A	c.(2149-2151)Cct>Act	p.P717T	ZNF585A_uc002ofm.1_Missense_Mutation_p.P662T|ZNF585A_uc002ofn.1_Missense_Mutation_p.P662T	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACACGTAAGGCTTCTCTCCA	0.453000														43			37		1.57019e-19	1.66833e-19	1	1	0
CHSY3	337876	broad.mit.edu	37	5	129241299	129241299	+	Silent	SNP	C	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr5:129241299C>T	uc003kvd.3	+	0	777	c.777C>T	c.(775-777)cgC>cgT	p.R259R		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	259						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGTTCATGCGCGCCGACGACG	0.562000														72			32		0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45410080	45410080	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr15:45410080C>A	uc001zuo.3	+	5	1217	c.936C>A	c.(934-936)gaC>gaA	p.D312E	DUOXA2_uc010beb.3_Non-coding_Transcript|DUOXA1_uc010uem.2_Intron|DUOXA1_uc001zup.3_Intron|DUOXA1_uc010bec.3_Intron	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	312					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTCTCCCAGACTTAAAATGTA	0.627000											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			38		8.69298e-16	9.01101e-16	1	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000														43			13		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67236622	67236622	+	Silent	SNP	T	A	A			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr16:67236622T>A	uc002esa.3	+	14	1693	c.1650T>A	c.(1648-1650)acT>acA	p.T550T	ELMO3_uc002esb.3_Silent_p.T533T|ELMO3_uc002esc.3_Silent_p.T384T|MIR328_uc010vjf.1_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	497	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		ATGCGCTCACTTATGGGGAGG	0.647000														21			38		0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228584695	228584695	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:228584695G>T	uc001hss.3	-	4	1067	c.812C>A	c.(811-813)aCc>aAc	p.T271N	TRIM11_uc010pvx.2_Missense_Mutation_p.T270N|TRIM11_uc001hst.1_Missense_Mutation_p.T271N	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	271	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CCTGCACACGGTCCTCAGCTC	0.627000														34			30		5.91797e-21	6.36743e-21	1	1	0
SMG5	23381	broad.mit.edu	37	1	156221203	156221203	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr1:156221203delG	uc001foc.4	-	19	2968	c.2819delC	c.(2818-2820)gcafs	p.A940fs		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	940	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAGGCATCTGCATCCTGCCT	0.552													---	129	---	---	69	---					
TTN	7273	broad.mit.edu	37	2	179429832	179429834	+	In_Frame_Del	DEL	AAT	-	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr2:179429832_179429834delAAT	uc021vsy.1	-	274	73546_73548	c.73321_73323delATT	c.(73321-73323)attdel	p.I24441del	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_In_Frame_Del_p.I18136del|TTN_uc021vta.1_In_Frame_Del_p.I18069del|TTN_uc021vtb.1_In_Frame_Del_p.I17944del	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25368	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTCTACAATGTAGTTGCTT	0.443													---	81	---	---	58	---					
AMPH	273	broad.mit.edu	37	7	38431574	38431574	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr7:38431574delA	uc003tgu.3	-	18	1869	c.1653delT	c.(1651-1653)catfs	p.H551fs	AMPH_uc003tgv.3_Frame_Shift_Del_p.H509fs|AMPH_uc003tgt.3_Frame_Shift_Del_p.H436fs|AMPH_uc003tgw.1_Frame_Shift_Del_p.H574fs|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	551					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTCCTCTTCATGGTTGGAGG	0.587													---	37	---	---	55	---					
ASNS	440	broad.mit.edu	37	7	97482647	97482647	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr7:97482647delC	uc003uot.4	-	10	1796	c.1290delG	c.(1288-1290)ttgfs	p.L430fs	ASNS_uc011kin.2_Frame_Shift_Del_p.L347fs|ASNS_uc011kio.2_Frame_Shift_Del_p.L409fs|ASNS_uc003uou.4_Frame_Shift_Del_p.L430fs|ASNS_uc003uov.4_Frame_Shift_Del_p.L430fs|ASNS_uc003uox.4_Frame_Shift_Del_p.L347fs	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	430	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGGCAGAGACAAGTAATAGG	0.343													---	84	---	---	25	---					
ADAM7	8756	broad.mit.edu	37	8	24339727	24339728	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr8:24339727_24339728insTA	uc003xeb.3	+	8	891_892	c.778_779insTA	c.(778-780)ctafs	p.L260fs	ADAM7_uc003xec.3_Frame_Shift_Ins_p.L32fs	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	260	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TAAAATAGAACTATATTCAAAT	0.307													---	78	---	---	27	---					
SUPT16H	11198	broad.mit.edu	37	14	21821646	21821648	+	Splice_Site	DEL	CCT	-	-			TCGA-A4-8630-01A-11D-2396-08	TCGA-A4-8630-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80f06506-7e60-402b-8286-dca976db7c76	72b037be-7e9f-4a16-8d05-ee2a4a58247d	g.chr14:21821646_21821648delCCT	uc001wao.2	-	25	3337	c.2998_splice	c.e25+1	p.A1000_splice	SUPT16H_uc001wan.2_Splice_Site_p.A144_splice	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	1000	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTTAAAAACCTTTTCGGGCTT	0.340													---	38	---	---	24	---					
