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
MYO1D	4642	broad.mit.edu	37	17	31107759	31107759	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:31107759C>T	uc002hho.1	-	1	151	c.139G>A	c.(139-141)Gtt>Att	p.V47I	MYO1D_uc002hhp.1_Missense_Mutation_p.V47I|MYO1D_uc010wcb.2_Missense_Mutation_p.V47I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	47	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding	p.V46I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTCACAGAAACGACGACTTCT	0.423000														50			10		0	0	0.008291	0	0
MCTP2	55784	broad.mit.edu	37	15	94943169	94943169	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:94943169C>G	uc002btj.3	+	14	1975	c.1910C>G	c.(1909-1911)aCt>aGt	p.T637S	MCTP2_uc010boj.3_Missense_Mutation_p.T366S|MCTP2_uc010bok.3_Missense_Mutation_p.T637S|MCTP2_uc002btk.4_Missense_Mutation_p.T225S|MCTP2_uc002btl.3_Missense_Mutation_p.T225S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	637					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTATTAGGACTTTTACTCCC	0.448000														125			21		0	0	0.002299	0	0
ZNF385B	151126	broad.mit.edu	37	2	180311412	180311412	+	Silent	SNP	T	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:180311412T>G	uc002unn.4	-	6	1360	c.756A>C	c.(754-756)acA>acC	p.T252T	ZNF385B_uc002unj.3_Silent_p.T150T|ZNF385B_uc002unl.3_Silent_p.T149T|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.T176T	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	252						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTGGCAGGGGTGTTGTGCCAG	0.458000														125			8		0	0	0.002299	0	0
ADCY7	113	broad.mit.edu	37	16	50347883	50347883	+	Silent	SNP	C	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:50347883C>G	uc002egd.1	+	21	3034	c.2766C>G	c.(2764-2766)ccC>ccG	p.P922P		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	922	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TACTGAAGCCCAAGTTCAGCG	0.617000														73			14		0	0	0.002450	0	0
CYP4F3	4051	broad.mit.edu	37	19	15763404	15763404	+	Missense_Mutation	SNP	A	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr19:15763404A>T	uc010xok.2	+	7	994	c.944A>T	c.(943-945)gAt>gTt	p.D315V	CYP4F3_uc010xol.2_Missense_Mutation_p.D315V|CYP4F3_uc002nbj.3_Missense_Mutation_p.D315V|CYP4F3_uc010xom.2_Missense_Mutation_p.D166V|CYP4F3_uc002nbk.3_Missense_Mutation_p.D315V|CYP4F3_uc010xon.2_Missense_Mutation_p.D25V	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	315					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AAGTTGTCCGATGAGGACATA	0.522000														260			9		0	0	0.008291	0	0
TSPAN33	340348	broad.mit.edu	37	7	128802337	128802337	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128802337G>A	uc003vop.2	+	2	372	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	88						integral to membrane		p.R88R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GGGTCCCTCCGCGAGAACATC	0.627000														47			6		0	0	0.003080	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736510	140736510	+	Silent	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140736510C>T	uc003ljq.2	+	0	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.S581S	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	582	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCCGCTCCGCAGATTCCG	0.592000														192			38		0	0	0.006230	0	0
USP6	9098	broad.mit.edu	37	17	5072170	5072170	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:5072170C>T	uc002gau.1	+	34	5567	c.3337C>T	c.(3337-3339)Cga>Tga	p.R1113*	USP6_uc002gav.1_Nonsense_Mutation_p.R1113*|USP6_uc010ckz.1_Nonsense_Mutation_p.R796*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1113					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGGTACCACGAGACCCGGC	0.473000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									211			43		0	0	0.002852	0	0
ZNF770	54989	broad.mit.edu	37	15	35274299	35274299	+	Nonsense_Mutation	SNP	G	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:35274299G>C	uc001ziw.3	-	2	1691	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*	ZNF770_uc021siy.1_Nonsense_Mutation_p.S446*	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCCTCACCTGATGAACCACA	0.343000														67			12		0	0	0.001368	0	0
abParts	0	broad.mit.edu	37	14	106349748	106349748	+	RNA	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:106349748C>T	uc021ser.1	-	3934		c.58736G>A								Parts of antibodies, mostly variable regions.																		CTGCTATGGGCGGCACCACTG	0.627000														69			9		0	0	0.004482	0	0
MORC1	27136	broad.mit.edu	37	3	108773665	108773665	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:108773665T>A	uc003dxl.3	-	13	1327	c.1240A>T	c.(1240-1242)Aaa>Taa	p.K414*	MORC1_uc011bhn.2_Nonsense_Mutation_p.K414*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	414					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCCTGTTTATTATGGGAT	0.383000														72			18		0	0	0.008871	0	0
GRPR	2925	broad.mit.edu	37	X	16168588	16168588	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:16168588A>G	uc004cxj.3	+	1	1227	c.574A>G	c.(574-576)Acc>Gcc	p.T192A		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	192					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.T192T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACCAACCAGACCTTCATTAG	0.502000														141			35		0	0	0.006230	0	0
SNRPE	6635	broad.mit.edu	37	1	203832798	203832798	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:203832798G>A	uc001hai.3	+	2	137	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SNRPE_uc010pqn.2_Non-coding_Transcript	NM_003094	NP_003085	P62304	RUXE_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE), mRNA.	30					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGATCGCGGATTCAGGTG	0.473000														123			555		0	0	0.003610	0	0
ITIH6	347365	broad.mit.edu	37	X	54776462	54776462	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:54776462C>T	uc004dtj.2	-	12	3838	c.3808G>A	c.(3808-3810)Gtg>Atg	p.V1270M		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1270					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ATCACAGGCACATCTGGGCCA	0.597000														51			14		0	0	0.004007	0	0
HYDIN	54768	broad.mit.edu	37	16	70902514	70902514	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:70902514C>T	uc002ezr.3	-	65	11417	c.11266G>A	c.(11266-11268)Gta>Ata	p.V3756I	HYDIN_uc010cfy.3_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3757										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527000														42			5		0	0	0.001984	0	0
CUEDC1	404093	broad.mit.edu	37	17	55946527	55946527	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:55946527G>A	uc002ivd.1	-	6	1615	c.896C>T	c.(895-897)tCt>tTt	p.S299F	CUEDC1_uc002ive.1_Missense_Mutation_p.S299F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	299										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GGCATCTTCAGACACAGCGGG	0.617000														30			6		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179585342	179585342	+	Missense_Mutation	SNP	C	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179585342C>A	uc021vsy.1	-	76	19640	c.19415G>T	c.(19414-19416)gGt>gTt	p.G6472V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3133V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7399	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L6471I(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)			CACATCAGAACCTTTAAGAGC	0.393000														34			5		2.0095e-06	2.62292e-06	0.001984	1	0
RARS	5917	broad.mit.edu	37	5	167921621	167921621	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:167921621G>A	uc003lzx.3	+	4	586	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	182					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTAGTGAATGGAGTTCAACTA	0.343000														87			14		0	0	0.004007	0	0
PPP3R1	5534	broad.mit.edu	37	2	68413615	68413615	+	Silent	SNP	A	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:68413615A>G	uc002sei.1	-	4	842	c.450T>C	c.(448-450)ttT>ttC	p.F150F		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	150	EF-hand 4.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	AGAATTCTTCAAAGGATATTC	0.333000														93			14		0	0	0.004007	0	0
ACACB	32	broad.mit.edu	37	12	109625810	109625810	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:109625810A>G	uc001tob.3	+	12	2106	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	ACACB_uc001toc.3_Missense_Mutation_p.K663E	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	663	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAGGGTTTTAAGCCGAGCTC	0.498000														82			3		0	0	0.004672	0	0
TMEM47	83604	broad.mit.edu	37	X	34648526	34648526	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34648526G>T	uc004ddh.3	-	2	709	c.450C>A	c.(448-450)aaC>aaA	p.N150K	TMEM47_uc010ngs.3_Non-coding_Transcript	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	Homo sapiens transmembrane protein 47 (TMEM47), mRNA.	150						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CATAACCCCAGTTGAACTCAT	0.428000														115			21		3.62473e-10	4.83298e-10	0.001882	1	0
IRX6	79190	broad.mit.edu	37	16	55361633	55361633	+	Silent	SNP	C	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:55361633C>G	uc002ehy.3	+	3	1082	c.549C>G	c.(547-549)gcC>gcG	p.A183A	IRX6_uc002ehx.3_Silent_p.A183A|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCATGCTGGCCATCATCACCA	0.572000														103			21		0	0	0.001523	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972757	29972757	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:29972757G>T	uc004dby.2	+	9	1828	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	440	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.K440K(2)|p.E439Q(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGCTTGAAAAGCATTATGGAT	0.373000														74			14		0.00316338	0.00396221	0.003163	1	0
TMEM225	338661	broad.mit.edu	37	11	123753867	123753867	+	Missense_Mutation	SNP	C	T	T	rs114749572	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:123753867C>T	uc001pzi.3	-	3	864	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	219						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418000														93			8		0	0	0.006214	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467219	85467219	+	Missense_Mutation	SNP	G	A	A	rs150926643		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:85467219G>A	uc002blg.3	+	11	1163	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SLC28A1_uc010upd.1_Missense_Mutation_p.E243K|SLC28A1_uc010bnb.3_Missense_Mutation_p.E321K|SLC28A1_uc010upe.2_Missense_Mutation_p.E321K|SLC28A1_uc010upf.1_Missense_Mutation_p.E321K|SLC28A1_uc010upg.1_Missense_Mutation_p.E321K	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	321					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.E321K(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTTGCAGACCGAGGCTCCATT	0.567000														57			9		0	0	0.004482	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957203	102957203	+	Silent	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:102957203C>T	uc002tbu.1	+	4	796	c.525C>T	c.(523-525)gaC>gaT	p.D175D	IL1RL1_uc010ywa.2_Silent_p.D58D|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.D175D	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	175	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGACTGAGGACGCAGGTGATT	0.423000														89			21		0	0	0.002780	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57989740	57989740	+	Missense_Mutation	SNP	C	T	T	rs144510690		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:57989740C>T	uc001sou.3	+	3	570	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	PIP4K2C_uc001sot.3_Missense_Mutation_p.R147W|PIP4K2C_uc010srs.2_Missense_Mutation_p.R129W|PIP4K2C_uc010srt.2_Intron	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	147	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.R147L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTCCTACGATCGGACTCTGGT	0.522000														111			25		0	0	0.003954	0	0
CHST10	9486	broad.mit.edu	37	2	101009737	101009737	+	Silent	SNP	C	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:101009737C>A	uc002tam.3	-	6	1439	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	347					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTTTCTGGTACCCAAAGAGCT	0.448000														101			14		6.49762e-13	8.75766e-13	0.006122	1	0
ZNF276	92822	broad.mit.edu	37	16	89804475	89804475	+	Missense_Mutation	SNP	T	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:89804475T>A	uc002fos.4	+	10	1763	c.1666T>A	c.(1666-1668)Tgt>Agt	p.C556S	ZNF276_uc010ciq.3_Missense_Mutation_p.C342S|ZNF276_uc002foq.4_Missense_Mutation_p.C481S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.C342S|ZNF276_uc010cis.3_Missense_Mutation_p.C315S|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.C394S|ZNF276_uc010cit.2_3'UTR|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGACTTTGCCTGTGACCAGTG	0.597000														44			11		0	0	0.008291	0	0
PTH2R	5746	broad.mit.edu	37	2	209309554	209309554	+	Silent	SNP	C	A	A	rs143390240		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:209309554C>A	uc010zjb.2	+	6	1114	c.828C>A	c.(826-828)atC>atA	p.I276I	PTH2R_uc002vdb.3_Silent_p.I265I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	265						integral to plasma membrane	parathyroid hormone receptor activity	p.L276L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATAATCTCATCTTTGTGGCTT	0.413000														192			36		2.24893e-16	3.06448e-16	0.002222	1	0
WASH6P	653440	broad.mit.edu	37	X	155254994	155254994	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:155254994G>A	uc022cip.1	+	6	954	c.750G>A	c.(748-750)ccG>ccA	p.P250P						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;																		TGCCCCCACCGCAACAGCCAC	0.637000														26			4		0	0	0.000248	0	0
CENPJ	55835	broad.mit.edu	37	13	25479612	25479612	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:25479612C>G	uc001upt.4	-	6	2817	c.2564G>C	c.(2563-2565)aGg>aCg	p.R855T	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	855					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGCTCCTCCTGGACTTGCT	0.428000														67			11		0	0	0.008291	0	0
FARS2	10667	broad.mit.edu	37	6	5431389	5431389	+	Silent	SNP	A	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:5431389A>G	uc010jnv.1	+	3	1224	c.888A>G	c.(886-888)caA>caG	p.Q296Q	FARS2_uc003mwr.2_Silent_p.Q296Q	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	296					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGATGGAACAACAACTGGTCA	0.458000														112			20		0	0	0.008871	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107513272	107513272	+	Silent	SNP	C	T	T	rs146388542	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:107513272C>T	uc004bch.1	+	1	201	c.96C>T	c.(94-96)taC>taT	p.Y32Y	NIPSNAP3B_uc011lvt.2_Silent_p.Y32Y|NIPSNAP3B_uc011lvu.1_Silent_p.Y32Y	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	32										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						CCAGACAATACGATGGAATAT	0.363000														90			15		0	0	0.002450	0	0
COBL	23242	broad.mit.edu	37	7	51096966	51096966	+	Silent	SNP	T	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:51096966T>C	uc003tps.3	-	10	2183	c.1998A>G	c.(1996-1998)aaA>aaG	p.K666K	COBL_uc003tpr.4_Silent_p.K609K|COBL_uc011kcl.2_Silent_p.K609K|COBL_uc003tpp.4_Silent_p.K395K|COBL_uc003tpq.4_Silent_p.K550K|COBL_uc003tpo.4_Silent_p.K151K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	609										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACGGATTCCTTTTCCGACGT	0.537000														112			3		0	0	0.000248	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872726	51872726	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr20:51872726C>T	uc002xwo.3	+	1	3616	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	TSHZ2_uc021wex.1_Missense_Mutation_p.T907M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	910					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTAGGAAAACGGGCGGGACA	0.488000														65			7		0	0	0.004482	0	0
TLN1	7094	broad.mit.edu	37	9	35717307	35717307	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:35717307C>T	uc003zxt.2	-	18	2648	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	765					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTACCCCTCGCAACAGTTG	0.617000														108			29		0	0	0.002096	0	0
ERC2	26059	broad.mit.edu	37	3	56026258	56026258	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:56026258G>A	uc021wzo.1	-	9	2222	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D	ERC2_uc003dhr.1_Silent_p.D694D|ERC2_uc003dht.1_Silent_p.D177D	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	694						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATCCTGGAGTCATCTTCAA	0.428000														185			33		0	0	0.006230	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166068	140166068	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140166068C>T	uc003lhb.2	+	0	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHAC2_uc003lha.2_Missense_Mutation_p.R65W|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R65W	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	78	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCTGTTCCGGGTGGCGTC	0.587000														119			30		0	0	0.002096	0	0
C12orf12	196477	broad.mit.edu	37	12	91347670	91347670	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:91347670T>C	uc001tbj.3	-	0	1284	c.850A>G	c.(850-852)Aat>Gat	p.N284D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	284	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						tcatcatcatttttcttctcc	0.517000														308			7		0	0	0.003080	0	0
UTP20	27340	broad.mit.edu	37	12	101750464	101750464	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:101750464C>G	uc001tia.1	+	41	5683	c.5527C>G	c.(5527-5529)Ctg>Gtg	p.L1843V		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1843					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGAAGCTAATCTGCCAAGGTA	0.363000														26			3		0	0	0.000248	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176926	140176926	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140176926T>C	uc003lhd.2	+	0	2483	c.2377T>C	c.(2377-2379)Tac>Cac	p.Y793H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.Y793H|PCDHAC2_uc011czy.2_Missense_Mutation_p.Y793H	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	831					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCAGAATACGTAGGAAA	0.403000														48			14		0	0	0.001855	0	0
PRSS23	11098	broad.mit.edu	37	11	86519582	86519582	+	Missense_Mutation	SNP	C	A	A	rs150416218		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:86519582C>A	uc021qok.1	+	0	897	c.897C>A	c.(895-897)gaC>gaA	p.D299E	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.D267E|PRSS23_uc001pcb.3_Missense_Mutation_p.D299E	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	299					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGTCAAAGACGAGACCTATG	0.557000														114			15		3.52763e-06	4.55652e-06	0.004990	1	0
FLNC	2318	broad.mit.edu	37	7	128489530	128489530	+	Silent	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128489530C>T	uc003vnz.4	+	29	5306	c.5097C>T	c.(5095-5097)gaC>gaT	p.D1699D	FLNC_uc003voa.4_Silent_p.D1699D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1699					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612000														88			10		0	0	0.000978	0	0
LRFN5	145581	broad.mit.edu	37	14	42355895	42355895	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:42355895C>T	uc001wvm.3	+	2	1265	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_uc010ana.3_Missense_Mutation_p.R23C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	23	LRRNT.					integral to membrane		p.R23H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398000										HNSCC(30;0.082)				35			5		0	0	0.001168	0	0
MYOC	4653	broad.mit.edu	37	1	171605340	171605340	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:171605340C>T	uc001ghu.3	-	2	1262	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	MYOC_uc010pmk.2_Missense_Mutation_p.E356K	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	414	Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.E414K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTTTGTTCGAGTTCCAGA	0.527000														129			34		0	0	0.004878	0	0
LOC100288778	100288778	broad.mit.edu	37	12	88936	88936	+	Silent	SNP	A	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:88936A>C	uc010scy.2	+	6	912	c.357A>C	c.(355-357)gcA>gcC	p.A119A	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdc.1_Non-coding_Transcript|LOC100288778_uc010sdd.2_Silent_p.A119A|LOC100288778_uc010sde.2_Silent_p.A119A|LOC100288778_uc010sdf.2_Silent_p.A119A|LOC100288778_uc010sdg.2_Silent_p.A119A|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		TGGCCAGTGCACCCCCACTCC	0.642000														4			3		0	0	0.004672	0	0
DSE	29940	broad.mit.edu	37	6	116758080	116758080	+	Missense_Mutation	SNP	A	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:116758080A>C	uc011ebg.2	+	5	2605	c.2506A>C	c.(2506-2508)Aaa>Caa	p.K836Q	DSE_uc003pws.3_Missense_Mutation_p.K817Q|DSE_uc003pwt.3_Missense_Mutation_p.K817Q|DSE_uc003pwu.3_Missense_Mutation_p.K484Q	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	817					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAAACGCTATAAATTTGTGGA	0.423000														48			8		0	0	0.003080	0	0
SNX29	92017	broad.mit.edu	37	16	12571690	12571690	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:12571690C>G	uc002dby.4	+	18	2214	c.997C>G	c.(997-999)Cca>Gca	p.P333A		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	333	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTACAACTTCCCACCCAAAAA	0.438000														36			6		0	0	0.001984	0	0
LOC646214	646214	broad.mit.edu	37	15	21937331	21937331	+	RNA	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:21937331G>A	uc010tzj.1	-	0		c.3409C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCAGTGCAACGTCAGTAGCAG	0.348000														88			13		0	0	0.003163	0	0
SETD2	29072	broad.mit.edu	37	3	47098400	47098400	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:47098400G>A	uc003cqv.3	-	15	7161	c.7075C>T	c.(7075-7077)Caa>Taa	p.Q2359*	SETD2_uc003cqs.3_Nonsense_Mutation_p.Q2292*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2292	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGGTTGCTTGAGACTGTGCA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma									87			14		0	0	0.001855	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341228	130341228	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:130341228G>A	uc010scd.2	+	6	2028	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	676	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G676E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGGTGTGTGGGGGAGACAATA	0.572000														69			12		0	0	0.002450	0	0
SRBD1	55133	broad.mit.edu	37	2	45616592	45616592	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:45616592G>A	uc002rus.3	-	20	2921	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	SRBD1_uc010yoc.2_Nonsense_Mutation_p.R468*	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	949	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTACATTTCGTATGGGAATC	0.433000														65			15		0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179396156	179396156	+	Silent	SNP	A	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179396156A>G	uc021vsy.1	-	306	97707	c.97482T>C	c.(97480-97482)taT>taC	p.Y32494Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y26189Y|TTN_uc021vta.1_Silent_p.Y26122Y|TTN_uc021vtb.1_Silent_p.Y25997Y|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33421							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)			ATGAAACAGCATACGCCTCTG	0.473000														120			33		0	0	0.002445	0	0
MUC17	140453	broad.mit.edu	37	7	100679593	100679593	+	Silent	SNP	A	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:100679593A>G	uc003uxp.1	+	2	4949	c.4896A>G	c.(4894-4896)ctA>ctG	p.L1632L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1632	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCCTCTATTAACAAGTA	0.493000														557			64		0	0	0.003610	0	0
ANXA1	301	broad.mit.edu	37	9	75783993	75783993	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:75783993C>T	uc004ajf.1	+	11	981	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_uc004ajg.1_Missense_Mutation_p.R303C	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	303					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	p.R303S(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TATGGTTTCCCGTTCTGAAAT	0.388000														126			29		0	0	0.006320	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														35			10		0	0	0.001368	0	0
APOA4	337	broad.mit.edu	37	11	116691938	116691938	+	Missense_Mutation	SNP	C	T	T	rs1042372		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:116691938C>T	uc001pps.1	-	2	940	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.									p.L278Q(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGTGTTGCCCCTCAGGTTGCC	0.677000														118			6		0	0	0.001168	0	0
abParts	0	broad.mit.edu	37	14	106714532	106714532	+	RNA	SNP	C	T	T	rs74186048	by1000genomes	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:106714532C>T	uc021ser.1	-	1006		c.23324G>A								Parts of antibodies, mostly variable regions.																		CATTCCAGCCCCTTCCCGGGA	0.522000														59			6		0	0	0.001168	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698493	153698493	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:153698493C>T	uc004flm.3	+	28	5142	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1657					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGACACGGCTGCTGGC	0.617000														48			9		0	0	0.006214	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371450	114371450	+	RNA	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:114371450G>A	uc022bly.1	-	1		c.656C>T								Homo sapiens chromosome 9 open reading frame 29 (C9orf29), non-coding RNA.																		AGTGCAGTCCGTCTTCAAGGT	0.493000														163			42		0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473000														23			10		0	0	0.007413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140182210G>T	uc003lhf.2	+	0	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.T476T	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	490	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667000														220			5		1.08611e-07	1.43274e-07	0.000978	1	0
ANKRD18DP	348840	broad.mit.edu	37	3	197803763	197803763	+	RNA	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:197803763G>A	uc003fyx.3	-	2		c.592C>T			ANKRD18DP_uc010iat.2_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 18D, pseudogene (ANKRD18DP), non-coding RNA.																		CAGTGTTGCCGTAGACATCCT	0.458000														27			4		0	0	0.000248	0	0
FAM47B	170062	broad.mit.edu	37	X	34962764	34962764	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34962764G>A	uc004ddi.2	+	0	1852	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	606								p.V606I(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATGCCTGGCGTCATTGAAAA	0.438000														233			51		0	0	0.003610	0	0
DUOX2	50506	broad.mit.edu	37	15	45389890	45389890	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:45389890G>A	uc001zun.3	-	27	3818	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F	DUOX2_uc010bea.3_Silent_p.F1205F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1205	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGGAGGCGAAGACATACA	0.617000														83			28		0	0	0.007291	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883393	7883393	+	Splice_Site	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:7883393G>A	uc001qtg.1	-	5	671	c.497_splice	c.e5+1	p.T166_splice	CLEC4C_uc001qth.1_Splice_Site_p.T166_splice|CLEC4C_uc001qti.1_Splice_Site_p.T135_splice	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	166	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTATACTCACGTGACATTTTC	0.433000														99			18		0	0	0.001523	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904175	21904175	+	RNA	SNP	T	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:21904175T>G	uc002gza.2	+	0		c.114T>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggaagcagcgtggcatcccag	0.682000														449			10		0	0	0.001368	0	0
TDRD6	221400	broad.mit.edu	37	6	46655895	46655895	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:46655895G>A	uc003oyj.3	+	0	284	c.30G>A	c.(28-30)ccG>ccA	p.P10P	TDRD6_uc010jze.3_Silent_p.P10P	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	10					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCCGGCGCCGGGGGCCTCGC	0.721000														7			3		0	0	0.004672	0	0
ABCA13	154664	broad.mit.edu	37	7	48320993	48320993	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:48320993T>C	uc003toq.2	+	18	8804	c.8780T>C	c.(8779-8781)aTg>aCg	p.M2927T	ABCA13_uc010kys.1_Missense_Mutation_p.M1T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2927					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGAAGCCATGGAGATGCTG	0.438000														25			4		0	0	0.000248	0	0
YBX2	51087	broad.mit.edu	37	17	7193769	7193769	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7193769C>T	uc002gfq.2	-	4	602	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	182					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGGGATGAATCGGCGGGACTT	0.642000														81			4		0	0	0.000602	0	0
ITIH6	347365	broad.mit.edu	37	X	54785300	54785300	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:54785300C>T	uc004dtj.2	-	7	1237	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	403	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G403S(1)									GTCGTCACGCCGGCCGTGGGC	0.597000														33			12		0	0	0.001368	0	0
SPDEF	25803	broad.mit.edu	37	6	34508917	34508917	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:34508917G>A	uc003ojq.2	-	2	912	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SPDEF_uc011dsq.2_Silent_p.L160L	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	160	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCTGTCCACAGGAGCCACTTC	0.642000														9			7		0	0	0.004482	0	0
MLL5	55904	broad.mit.edu	37	7	104753522	104753522	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:104753522G>A	uc003vcm.3	+	26	5853	c.5319G>A	c.(5317-5319)ccG>ccA	p.P1773P	MLL5_uc010ljc.3_Silent_p.P1773P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Silent_p.P507P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1773	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CTTTGGGACCGGGACCCCAGC	0.532000														206			40		0	0	0.002852	0	0
CERS3	204219	broad.mit.edu	37	15	100996220	100996220	+	Missense_Mutation	SNP	A	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:100996220A>T	uc002bwa.3	-	12	1481	c.910T>A	c.(910-912)Tat>Aat	p.Y304N	CERS3_uc002bvz.3_Missense_Mutation_p.Y293N|CERS3_uc002bwb.3_Missense_Mutation_p.Y293N	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	293	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.Y293H(1)									TCGAGGTGATACATAGGCAAG	0.378000														25			5		0	0	0.000602	0	0
LOC401010	401010	broad.mit.edu	37	2	132201922	132201922	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:132201922G>A	uc002tst.2	-	0	546	c.80C>T	c.(79-81)gCa>gTa	p.A27V						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GGCCACAGCTGCTCCGAATGC	0.547000														39			6		0	0	0.001984	0	0
CHD4	1108	broad.mit.edu	37	12	6702730	6702730	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:6702730T>C	uc001qpo.3	-	15	2530	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_uc001qpn.3_Missense_Mutation_p.N782S|CHD4_uc001qpp.3_Missense_Mutation_p.N786S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	789	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCGCTCCCAGTTGATGATGGT	0.532000														147			29		0	0	0.005443	0	0
RTN1	6252	broad.mit.edu	37	14	60212786	60212786	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:60212786C>T	uc001xen.1	-	1	864	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	219					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAGTCCAAGTCTTTATCTTCC	0.448000														218			44		0	0	0.002222	0	0
SCN10A	6336	broad.mit.edu	37	3	38755451	38755451	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:38755451G>A	uc003ciq.3	-	20	3802	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1268					sensory perception	voltage-gated sodium channel complex		p.R1268W(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGACTTACCCGCATGCCTTCA	0.552000														93			22		0	0	0.003330	0	0
NRAP	4892	broad.mit.edu	37	10	115401191	115401191	+	Missense_Mutation	SNP	C	T	T	rs138124439		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr10:115401191C>T	uc001lal.3	-	12	1420	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NRAP_uc001laj.3_Missense_Mutation_p.R419H|NRAP_uc001lak.3_Missense_Mutation_p.R384H	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCTTCATAGCGGCCTCTCAT	0.438000														93			25		0	0	0.005443	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000														17			7		0	0	0.003080	0	0
PRLR	5618	broad.mit.edu	37	5	35065590	35065590	+	Silent	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:35065590C>T	uc003jjm.3	-	9	2029	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.T389T|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	490					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T490T(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCAGGGCGTATCCTGGT	0.483000														121			25		0	0	0.003954	0	0
TRIM60	166655	broad.mit.edu	37	4	165962269	165962269	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr4:165962269C>T	uc003iqy.1	+	2	1215	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	TRIM60_uc010iqx.1_Nonsense_Mutation_p.R349*|TRIM60_uc021xty.1_Nonsense_Mutation_p.R349*	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	349	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TAGTTCTGGCCGACATTACTG	0.433000														104			20		0	0	0.001882	0	0
ZNF691	51058	broad.mit.edu	37	1	43317456	43317456	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:43317456G>T	uc021omh.1	+	3	1222	c.920G>T	c.(919-921)gGc>gTc	p.G307V	ZNF691_uc001cig.3_Missense_Mutation_p.G276V|ZNF691_uc009vwm.3_Missense_Mutation_p.G296V|ZNF691_uc001cih.3_Missense_Mutation_p.G303V|ZNF691_uc021omi.1_Missense_Mutation_p.G276V	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	139						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTCACTTGGGCGAACAGGCT	0.552000														52			6		0.00198382	0.00251014	0.001984	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724284	38724284	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:38724284G>A	uc001wum.1	-	0	1291	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	315						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617000														123			21		0	0	0.002780	0	0
DLG4	1742	broad.mit.edu	37	17	7106755	7106755	+	Missense_Mutation	SNP	T	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7106755T>G	uc010vtn.2	-	4	573	c.313A>C	c.(313-315)Aag>Cag	p.K105Q	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.K162Q|DLG4_uc002get.4_Missense_Mutation_p.K208Q|DLG4_uc010vto.2_Missense_Mutation_p.K205Q|DLG4_uc002geu.3_Missense_Mutation_p.K162Q	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	165	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTAGGCCCCTTGATGAGCTTG	0.607000														76			3		0	0	0.004672	0	0
DENND3	22898	broad.mit.edu	37	8	142176321	142176321	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr8:142176321C>G	uc003yvy.3	+	11	1624	c.1346C>G	c.(1345-1347)cCg>cGg	p.P449R	DENND3_uc010mep.3_Missense_Mutation_p.P410R|DENND3_uc003yvz.1_Missense_Mutation_p.P133R	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	449								p.P449L(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483000														257			6		0	0	0.001168	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003755	75003755	+	Missense_Mutation	SNP	A	C	C			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:75003755A>C	uc004ecj.2	-	0	1325	c.1132T>G	c.(1132-1134)Tac>Gac	p.Y378D		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	378	MAGE 2.							p.Y378_L379>*(1)|p.Y378*(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAAGGAGGTAGATGTGCTCA	0.433000														157			24		0	0	0.002299	0	0
MYO7B	4648	broad.mit.edu	37	2	128341815	128341815	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:128341815C>T	uc002top.3	+	12	1515	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	488	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGACTATATCCACTACACCGA	0.577000														77			14		0	0	0.003163	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7980912	7980914	+	In_Frame_Del	DEL	CTT	-	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:7980912_7980914delCTT	uc001aot.3	-	8	1010_1012	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													---	264	---	---	7	---					
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	-	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:195447912_195447914delTTC	uc010hzo.3	+	0	160_162	c.34_36delTTC	c.(34-36)ttcdel	p.F14del		NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	14					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611													---	4	---	---	5	---					
AKIP1	56672	broad.mit.edu	37	11	8940912	8940912	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:8940912delT	uc001mgx.3	+	5	594	c.518delT	c.(517-519)atafs	p.I173fs	AKIP1_uc001mgz.3_Frame_Shift_Del_p.I146fs|AKIP1_uc001mgy.3_Frame_Shift_Del_p.I146fs|AKIP1_uc021qdh.1_Frame_Shift_Del_p.I119fs|AKIP1_uc001mha.3_Frame_Shift_Del_p.I173fs|AKIP1_uc021qdi.1_Frame_Shift_Del_p.I146fs	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN	Homo sapiens A kinase (PRKA) interacting protein 1 (AKIP1), transcript variant 1, mRNA.	173						nucleus	protein binding			kidney(1)|large_intestine(2)|lung(2)	5						GACCTCTACATAGAAGTATAT	0.468													---	118	---	---	30	---					
PHF21A	51317	broad.mit.edu	37	11	46098353	46098356	+	Frame_Shift_Del	DEL	TTTC	-	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:46098353_46098356delTTTC	uc001ncc.4	-	4	726_729	c.102_105delGAAA	c.(100-105)aagaaafs	p.K34fs	PHF21A_uc001ncb.4_Frame_Shift_Del_p.K34fs|PHF21A_uc009ykx.3_Frame_Shift_Del_p.K34fs|PHF21A_uc001nce.2_Frame_Shift_Del_p.K34fs	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	34	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CATGAAGCTGTTTCTTTAAGTCAG	0.368													---	82	---	---	10	---					
CRYL1	51084	broad.mit.edu	37	13	21013857	21013859	+	In_Frame_Del	DEL	TCT	-	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:21013857_21013859delTCT	uc001une.3	-	3	390_392	c.311_313delAGA	c.(310-315)aagatt>att	p.K104del	CRYL1_uc001unf.3_In_Frame_Del_p.K82del|CRYL1_uc001ung.3_In_Frame_Del_p.K82del|CRYL1_uc010tcp.1_5'UTR	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	Homo sapiens crystallin, lambda 1 (CRYL1), mRNA.	104					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TGAGCAAAAATCTTCTTCTTCAG	0.419													---	67	---	---	12	---					
RB1	5925	broad.mit.edu	37	13	48955530	48955533	+	Frame_Shift_Del	DEL	ATTT	-	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:48955530_48955533delATTT	uc001vcb.3	+	16	1812_1815	c.1646_1649delATTT	c.(1645-1650)catttafs	p.H549fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	549	Domain A.|Pocket; binds T and E1A.		H -> Y (in RB).		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGATAAAACATTTAGAACGATGT	0.328		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	36	---	---	9	---					
F8	2157	broad.mit.edu	37	X	154159063	154159063	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:154159063delG	uc004fmt.3	-	13	3173	c.3002delC	c.(3001-3003)gctfs	p.A1001fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1001	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTCAACAAAGCAGGTCCATG	0.343													---	135	---	---	26	---					
