Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CRTC1	23373	broad.mit.edu	37	19	18879357	18879357	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:18879357G>A	uc010ebv.3	+	10	1210	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	CRTC1_uc002nkb.4_Silent_p.A358A|CRTC1_uc010ebw.3_Silent_p.A223A	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	358					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCACCCAGGCGGGCTCCCAGC	0.751000													8	17					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	C	T	rs141013110		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	169					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561054	142561054	+	Silent	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:142561054G>T	uc011kst.2	+	4	856	c.69G>T	c.(67-69)ctG>ctT	p.L23L	EPHB6_uc011ksu.2_Silent_p.L23L|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	23						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TATGGGTGCTGCTCCTGGTGT	0.587000													9	95					0.000274275	0.00028058	1	1	0
TTN	7273	broad.mit.edu	37	2	179456396	179456396	+	Silent	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:179456396T>C	uc021vsy.1	-	251	52671	c.52446A>G	c.(52444-52446)gtA>gtG	p.V17482V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V11177V|TTN_uc021vta.1_Silent_p.V11110V|TTN_uc021vtb.1_Silent_p.V10985V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18409	Ig-like 103.						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)			TTTCAGCTTTTACACGGAATC	0.393000													4	295					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27898498	27898498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:27898498G>A	uc002rlk.4	+	5	1727	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	482						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAAGAAGCGTCTGAACAGA	0.398000													52	63					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79312681	79312681	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:79312681A>G	uc002sny.2	-	4	482	c.370T>C	c.(370-372)Tgg>Cgg	p.W124R	REG1B_uc010ffv.1_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	124	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCAGTGTCCCAGGACTTGTAG	0.542000													28	55					0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547384	19547384	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:19547384G>A	uc002dgl.4	+	3	640	c.393G>A	c.(391-393)acG>acA	p.T131T	CCP110_uc002dgk.4_Silent_p.T131T	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	131	CEP97 binding.				G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAGCCATACGGAACACTCTA	0.388000													34	24					0	0	1	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959228	183959228	+	RNA	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:183959228A>G	uc003ivi.4	+	0		c.411A>G								Homo sapiens family with sequence similarity 92, member A3 (FAM92A3), non-coding RNA.																		AGCTTATGTAACCATTGTAAA	0.413000													16	8					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111685531	111685531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:111685531C>T	uc010hqa.3	+	13	3560	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	PHLDB2_uc003dyc.3_Missense_Mutation_p.T1034M|PHLDB2_uc003dyd.3_Missense_Mutation_p.T1007M|PHLDB2_uc003dyg.3_Missense_Mutation_p.T1050M|PHLDB2_uc003dyh.3_Missense_Mutation_p.T1007M|PHLDB2_uc003dyi.3_Missense_Mutation_p.T541M|PHLDB2_uc003dyj.3_Missense_Mutation_p.T105M	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1050						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGAAAAGACGCGGCTGCTC	0.478000													58	41					0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30231298	30231298	+	Silent	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr20:30231298T>C	uc002wwj.1	+	3	414	c.339T>C	c.(337-339)atT>atC	p.I113I		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	113					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCTTCATTGGATTCGCAG	0.562000													26	93					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39595476	39595476	+	Silent	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:39595476G>C	uc002hwq.1	-	2	1134	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.657000													30	40					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:50037528A>G	uc001rur.1	+	22	2435	c.2372A>G	c.(2371-2373)cAc>cGc	p.H791R	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.H812R|PRPF40B_uc001ruq.1_Missense_Mutation_p.H778R|PRPF40B_uc001rus.1_Missense_Mutation_p.H733R|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	791					RNA splicing|mRNA processing	nuclear speck		p.H791R(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463000													27	22					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41193149	41193149	+	Silent	SNP	C	C	T	rs12914973	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:41193149C>T	uc001zne.3	+	3	2472	c.2133C>T	c.(2131-2133)cgC>cgT	p.R711R		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	711					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACCACCGCGCTTGTGTCC	0.632000													51	12					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000													4	105					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196748322	196748322	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:196748322A>C	uc001gtl.3	+	1	176	c.89A>C	c.(88-90)cAt>cCt	p.H30P	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.H30P|CFHR1_uc010poy.2_Missense_Mutation_p.H30P|CFHR1_uc001gtm.3_5'UTR	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	30	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GACATTAAACATGGAGGTCTA	0.289000													18	35					0	0	1	0	0
CCDC109B	55013	broad.mit.edu	37	4	110581405	110581405	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110581405C>G	uc011cfs.2	+	2	369	c.230C>G	c.(229-231)tCt>tGt	p.S77C	CCDC109B_uc010imf.2_Missense_Mutation_p.S77C	NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA.	77						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTTGCCATCTAGAAAAGAA	0.328000													12	8					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63935628	63935628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:63935628C>T	uc002amp.3	-	57	11454	c.11306G>A	c.(11305-11307)gGg>gAg	p.G3769E		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3769					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTCATGAGCCCACCTAGTCC	0.418000													19	1					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25603098	25603098	+	Silent	SNP	C	C	T	rs140985147		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:25603098C>T	uc003abo.1	+	5	627	c.555C>T	c.(553-555)gaC>gaT	p.D185D		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	185	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						ATGAGTGGGACGCCAGCCAGC	0.652000													6	69					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289071	62289071	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:62289071C>G	uc001ntl.3	-	4	13118	c.12818G>C	c.(12817-12819)gGt>gCt	p.G4273A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4273					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACATCACCCTTCACCTT	0.493000													7	346					0	0	1	0	0
PVRL3	25945	broad.mit.edu	37	3	110831116	110831116	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:110831116A>G	uc003dxt.2	+	1	659	c.400A>G	c.(400-402)Act>Gct	p.T134A	PVRL3_uc003dxu.2_Missense_Mutation_p.T111A|PVRL3_uc021xch.1_Missense_Mutation_p.T134A	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	134	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCAACAATTACTCTGCATAA	0.393000													43	41					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183843586	183843586	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:183843586T>C	uc002upc.3	-	13	1801	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	NCKAP1_uc002upb.3_Missense_Mutation_p.M473V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	467					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAGTCATAGTGTTAACA	0.279000													13	21					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74725174	74725174	+	Splice_Site	SNP	C	C	T	rs144019045	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:74725174C>T	uc002fdb.2	-	4	1163	c.722_splice	c.e4+1	p.A241_splice	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	241	Protein kinase.						ATP binding|protein binding|protein kinase activity	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438000													132	154					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773361	145773361	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:145773361T>C	uc003zds.1	-	5	1664	c.1109A>G	c.(1108-1110)cAg>cGg	p.Q370R	ARHGAP39_uc011llk.1_Missense_Mutation_p.Q370R|ARHGAP39_uc003zdt.1_Missense_Mutation_p.Q370R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	370					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGCACCAGCTGCTGGCAGGG	0.706000													13	15					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								31	41					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140176038C>T	uc003lhd.2	+	0	1595	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R497W|PCDHAC2_uc011czy.2_Missense_Mutation_p.R497W	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	511	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P496T(1)		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)			GCTGGTGGAGCGGCGGGTGGG	0.672000													6	148					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3075763	3075763	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:3075763G>A	uc002ctb.2	+	1	390	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.V32I|THOC6_uc002cta.2_Missense_Mutation_p.V8I	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	32					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTCCCAGAGCGTCTCACCATG	0.567000													20	92					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21721268	21721268	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:21721268C>T	uc003svc.3	+	30	5479	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1816	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCCAGAGACGTGGTGGCAA	0.398000									Kartagener syndrome				4	121					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96592232	96592232	+	Silent	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:96592232A>G	uc001vmt.3	-	15	1961	c.1791T>C	c.(1789-1791)tcT>tcC	p.S597S		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	597					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	p.S597C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCATATTTAGAATGAATTC	0.358000													14	28					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427110	97427110	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:97427110G>A	uc002swx.3	+	0	472	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	125					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AACGTGAGCCGCGGGAACACG	0.652000													4	149					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487540	108487540	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:108487540C>G	uc010ywk.2	+	19	3162	c.3080C>G	c.(3079-3081)gCc>gGc	p.A1027G	RGPD4_uc002tdu.3_Missense_Mutation_p.A214G|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1027					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATGATGATGCCTATAAGACT	0.388000													166	199					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135546109	135546109	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546109G>A	uc010mzv.3	+	0	382	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.2_5'Flank|GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	42					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCGGCCCCGGGGCCCAGCGC	0.756000													3	0					0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27239244	27239244	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:27239244C>G	uc001uqv.3	+	3	438	c.213C>G	c.(211-213)gaC>gaG	p.D71E	WASF3_uc001uqw.3_Missense_Mutation_p.D71E	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	71					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCTTCAAGACAGAATTGATC	0.408000													15	42					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624246	53624246	+	Silent	SNP	G	G	A	rs147184057		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:53624246G>A	uc001vhl.3	+	4	969	c.873G>A	c.(871-873)gcG>gcA	p.A291A	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	291	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448000													49	61					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141693969	141693969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:141693969C>T	uc010jgi.1	-	2	1015	c.774G>A	c.(772-774)tgG>tgA	p.W258*	SPRY4_uc003lml.2_Nonsense_Mutation_p.W235*|SPRY4_uc021yet.1_Nonsense_Mutation_p.W235*	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	235	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAAGGACCAGCGGGCGC	0.662000									Testicular Cancer, Familial Clustering of				29	28					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495073	71495073	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:71495073C>G	uc003kbw.4	+	4	6132	c.5891C>G	c.(5890-5892)aCc>aGc	p.T1964S	MAP1B_uc010iyw.1_Missense_Mutation_p.T1981S|MAP1B_uc010iyx.1_Missense_Mutation_p.T1838S|MAP1B_uc010iyy.1_Missense_Mutation_p.T1838S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1964						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAGACCACCAGCCCCCCC	0.473000													6	83					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	620335	620335	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:620335G>A	uc003jbf.3	+	2	434	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	121	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602000													48	77					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182696	140182696	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140182696C>T	uc003lhf.2	+	0	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.D638D	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	649	Cadherin 6.				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)			GTGCCCTGGACGAGGTGGACG	0.667000													11	143					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24187513	24187513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:24187513C>T	uc003xdy.3	+	10	1071	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	ADAM28_uc003xdx.3_Missense_Mutation_p.L330F|ADAM28_uc011kzz.2_Missense_Mutation_p.L97F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.L17F	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	330	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGCGATAATCTTCTTAGAGT	0.388000													7	128					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913795	35913795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:35913795C>T	uc002hoa.3	-	13	2113	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	SYNRG_uc010wde.2_Missense_Mutation_p.G599E|SYNRG_uc010wdf.2_Missense_Mutation_p.G599E|SYNRG_uc002hoc.3_Missense_Mutation_p.G598E|SYNRG_uc002hoe.3_Missense_Mutation_p.G599E|SYNRG_uc002hod.3_Missense_Mutation_p.G599E|SYNRG_uc010wdg.2_Missense_Mutation_p.G516E|SYNRG_uc002hob.3_Missense_Mutation_p.G677E|SYNRG_uc002hof.3_Missense_Mutation_p.G389E|SYNRG_uc010cvd.1_Missense_Mutation_p.G477E	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	677	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAATATTCCCCAAAAAGGCT	0.433000													39	58					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67690171	67690171	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:67690171G>A	uc002etn.3	+	33	3903	c.3783G>A	c.(3781-3783)tcG>tcA	p.S1261S	RLTPR_uc010vjr.2_Silent_p.S1225S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1261										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCCCATCTCGATCAAGTCCC	0.582000													11	169					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124953096	124953096	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:124953096G>C	uc003ehx.4	-	7	1231	c.745C>G	c.(745-747)Cat>Gat	p.H249D	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.H249D|ZNF148_uc010hsa.3_Missense_Mutation_p.H249D|ZNF148_uc003eia.4_Missense_Mutation_p.H249D|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	249					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.T248A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACTATGAGTTCTCTTA	0.303000													31	42					0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21458174	21458174	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:21458174C>T	uc001vyo.3	+	0	210	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	METTL17_uc010tlk.2_Silent_p.L5L|METTL17_uc001vym.3_Silent_p.L5L|METTL17_uc001vyn.3_Silent_p.L5L	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	5					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGCGGCGGCACTGAAGTGTCT	0.617000													48	32					0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625074	23625074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:23625074G>T	uc003swk.2	-	0	1073	c.423C>A	c.(421-423)tgC>tgA	p.C141*						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CAAAGATGATGCAGCCTATAC	0.512000													30	76					9.80776e-20	1.03916e-19	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37268400	37268400	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:37268400C>T	uc002rpp.1	-	18	2828	c.2732G>A	c.(2731-2733)gGt>gAt	p.G911D		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	911							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAATGAATGACCAGTCCTAGA	0.388000													24	71					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20767947	20767947	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:20767947G>A	uc010kuh.3	+	22	2973	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_uc003suw.4_Silent_p.S467S|ABCB5_uc003sux.1_Silent_p.S90S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	467					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353000													52	145					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102453840	102453840	+	Missense_Mutation	SNP	T	T	G	rs141623741		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:102453840T>G	uc003vaq.2	-	19	2584	c.2157A>C	c.(2155-2157)ttA>ttC	p.L719F	FBXL13_uc010liq.1_Missense_Mutation_p.L252F|FBXL13_uc010lir.1_Missense_Mutation_p.L674F|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.L691F	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	719										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTAATTCTAAGGCTCCTT	0.418000													44	98					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763754	56763754	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:56763754C>G	uc001xch.3	+	5	1419	c.1133C>G	c.(1132-1134)gCa>gGa	p.A378G		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	378					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAGAAGTCTGCAAAATACTGG	0.532000													39	85					0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76631555	76631555	+	RNA	SNP	C	C	T	rs61737188	by1000genomes	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:76631555C>T	uc011kgn.1	+	3		c.696C>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.									p.P21S(1)									GGCAATCGGGCCCCTGGCTGT	0.607000													4	81					0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33581347	33581347	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:33581347G>A	uc021qfs.1	+	5	3141	c.3017G>A	c.(3016-3018)gGc>gAc	p.G1006D	C11orf41_uc001mun.1_Missense_Mutation_p.G1012D	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1006						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TACGTCGTGGGCAATCAGAGC	0.577000													4	180					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259601	89259601	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:89259601G>A	uc003dqy.3	+	2	970	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	EPHA3_uc003dqx.1_Missense_Mutation_p.E249K|EPHA3_uc021xbf.1_Missense_Mutation_p.E249K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	249	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.E249K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACAGAAGGCGAATGGCTTGT	0.473000										TSP Lung(6;0.00050)			133	182					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36985704	36985704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:36985704C>T	uc003jkl.4	+	9	2921	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	NIPBL_uc003jkk.4_Nonsense_Mutation_p.R808*|NIPBL_uc003jkm.1_Nonsense_Mutation_p.R687*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	808					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGATGGGCGATCTGTTTC	0.428000													32	45					0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44363948	44363948	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:44363948C>T	uc001ckb.3	+	7	823	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Missense_Mutation_p.R162C|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Missense_Mutation_p.R147C|ST3GAL3_uc001ckd.3_Missense_Mutation_p.R201C|ST3GAL3_uc001cke.3_Missense_Mutation_p.R131C|ST3GAL3_uc001ckf.3_Missense_Mutation_p.R185C|ST3GAL3_uc001ckg.3_Missense_Mutation_p.R147C|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_Intron|ST3GAL3_uc001ckm.3_Missense_Mutation_p.R146C|ST3GAL3_uc001ckn.3_Non-coding_Transcript|ST3GAL3_uc001cko.3_Missense_Mutation_p.R131C|ST3GAL3_uc001ckp.3_Missense_Mutation_p.R146C|ST3GAL3_uc009vxa.3_5'UTR|ST3GAL3_uc001ckq.3_Missense_Mutation_p.R131C|ST3GAL3_uc001ckr.3_Missense_Mutation_p.R100C|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Missense_Mutation_p.R147C|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Missense_Mutation_p.R116C|ST3GAL3_uc009vwy.3_Missense_Mutation_p.R53C|ST3GAL3_uc001ckl.3_Missense_Mutation_p.R147C	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	147					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CAAAGAGTACCGCCTGACCCC	0.537000													48	12					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287390	155287390	+	Silent	SNP	C	C	T	rs78251264	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:155287390C>T	uc003inw.2	-	4	666	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_uc003inx.2_Silent_p.S816S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448000													20	38					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083749	1083749	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:1083749G>A	uc001lsx.1	+	17	2308	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	761						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCTGCACGGCCCCAAAGAT	0.701000													12	26					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219196	1219196	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:1219196C>T	uc003jbw.4	+	8	1408	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	451					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCATCCCCCCGAAGTGGCCC	0.607000													3	38					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16689996	16689996	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:16689996C>T	uc003jft.4	-	27	4301	c.3833G>A	c.(3832-3834)gGg>gAg	p.G1278E	MYO10_uc011cnc.2_Missense_Mutation_p.G157E|MYO10_uc011cnd.2_Missense_Mutation_p.G635E|MYO10_uc011cne.2_Missense_Mutation_p.G635E|MYO10_uc010itx.3_Missense_Mutation_p.G901E	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1278	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGTCGATCCCATTCTCCTT	0.463000													11	49					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51289979	51289979	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:51289979T>C	uc001zyx.2	+	17	2910	c.2803T>C	c.(2803-2805)Tgg>Cgg	p.W935R	AP4E1_uc021skz.1_Missense_Mutation_p.W860R|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	935					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTATAAAATTTGGAAAGATGA	0.308000													5	23					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:132547138A>G	uc001ujn.3	+	46	8378	c.8226A>G	c.(8224-8226)caA>caG	p.Q2742Q	EP400_uc021rgq.1_Silent_p.Q2741Q|EP400_uc001ujm.3_Silent_p.Q2661Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2778	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(6)|p.Q2742Q(3)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													4	126					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572206	127572206	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:127572206C>T	uc004bov.3	+	7	1587	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	OLFML2A_uc004bow.3_Missense_Mutation_p.R278W	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	492	Olfactomedin-like.							p.R492Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACGACCTACGGCAGCGCTT	0.592000													60	90					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52233389	52233389	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:52233389G>A	uc003xqu.4	-	21	4316	c.4215C>T	c.(4213-4215)gcC>gcT	p.A1405A	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1405	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCGCTCCTCGGCCTTCCTTG	0.527000													115	115					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136507441	136507441	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:136507441C>G	uc004cel.3	+	2	608	c.599C>G	c.(598-600)cCc>cGc	p.P200R		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	200					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCCTGAAGCCCAATATCCCC	0.622000													26	47					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170101367	170101367	+	Missense_Mutation	SNP	C	C	T	rs143115109		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:170101367C>T	uc002ues.3	-	21	3479	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	LRP2_uc010zdf.1_Missense_Mutation_p.R952H	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1089	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R1089C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAGTCGTTGCGTTTGTCACA	0.517000													77	114					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110884445	110884445	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110884445G>A	uc003hzy.4	+	8	1881	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	EGF_uc011cfu.2_Missense_Mutation_p.A435T|EGF_uc011cfv.2_Missense_Mutation_p.A477T	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	477	EGF-like 4.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAAAAGCTGTGCAGCTTCAGG	0.423000													62	94					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120151065	120151065	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:120151065T>C	uc001txj.2	-	34	4578	c.4522A>G	c.(4522-4524)Aag>Gag	p.K1508E	CIT_uc001txh.2_Missense_Mutation_p.K985E|CIT_uc001txi.2_Missense_Mutation_p.K1466E	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1466	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAATGTACTTCCTGTCCCAG	0.443000													131	154					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr6:30955025G>A	uc003nsh.2	+	1	1324	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S342N	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	358	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.S358N(2)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642000													6	611					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084076	9084076	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:9084076G>T	uc002mkp.3	-	0	7943	c.7739C>A	c.(7738-7740)aCa>aAa	p.T2580K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2580	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGTGGGTGTAGTTGGGGT	0.483000													15	120					1.15088e-07	1.20504e-07	1	1	0
RRN3P1	730092	broad.mit.edu	37	16	21809167	21809167	+	Missense_Mutation	SNP	G	G	A	rs141895991	by1000genomes	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:21809167G>A	uc010vbl.1	-	10	1030	c.533C>T	c.(532-534)cCt>cTt	p.P178L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CAGACTCTGAGGATACTGCAA	0.338000													5	36					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12655844	12655844	+	Silent	SNP	G	G	A	rs150316964	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:12655844G>A	uc002gno.2	+	9	1538	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_uc002gnn.2_Silent_p.P413P|MYOCD_uc002gnp.1_Silent_p.P317P|MYOCD_uc002gnq.2_Silent_p.P132P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	413					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.P413P(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552000													55	76					0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11363187	11363187	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr10:11363187G>C	uc001ikk.2	+	11	1328	c.1168G>C	c.(1168-1170)Gga>Cga	p.G390R	CELF2_uc010qbj.1_Missense_Mutation_p.G371R|CELF2_uc001iki.4_Missense_Mutation_p.G365R|CELF2_uc001ikl.4_Missense_Mutation_p.G378R|CELF2_uc010qbl.1_Missense_Mutation_p.G341R|CELF2_uc010qbm.1_Missense_Mutation_p.G137R|CELF2_uc001iko.4_Missense_Mutation_p.G345R|CELF2_uc001ikp.4_Missense_Mutation_p.G347R|CELF2_uc010qbo.1_Missense_Mutation_p.G260R|CELF2_uc010qbp.1_Missense_Mutation_p.G137R	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	365	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTCTGAATGGAGGACTTGG	0.517000													35	68					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135546108	135546108	+	Silent	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546108G>T	uc010mzv.3	+	0	381	c.123G>T	c.(121-123)ccG>ccT	p.P41P	DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.2_5'Flank|GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	41					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGCGGCCCCGGGGCCCAGCG	0.761000													3	0					0.150653	0.150653	1	1	0
SSPO	23145	broad.mit.edu	37	7	149516518	149516518	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:149516518G>A	uc010lpk.3	+	83	11912	c.11912G>A	c.(11911-11913)cGt>cAt	p.R3971H	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3974	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCATACCGTCCCCCTGGG	0.711000													8	47					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27849514	27849514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:27849514C>T	uc002hdz.2	+	16	2319	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	709					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGGAAGTTCGACAACAGCC	0.398000													52	71					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15609937	15609937	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chrX:15609937C>T	uc004cxa.1	-	3	650	c.482G>A	c.(481-483)aGg>aAg	p.R161K	ACE2_uc004cxb.2_Missense_Mutation_p.R161K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	161					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGCCCAGAGCCTCTCATTGTA	0.398000													6	277					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320164	232320164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:232320164delA	uc002vru.3	-	12	2145	c.2004delT	c.(2002-2004)ggtfs	p.G668fs		NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	668	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTCCTCTACCACCACCTCGTC	0.567													8	539	---	---	---	---					
WNT16	51384	broad.mit.edu	37	7	120969426	120969426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:120969426delC	uc003vjw.3	+	0	337	c.80delC	c.(79-81)gccfs	p.A27fs	WNT16_uc003vjv.3_Intron|WNT16_uc010lkl.3_5'Flank	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	27					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCCTACGGAGCCCAAGGAAAC	0.647													33	25	---	---	---	---					
ASB15	142685	broad.mit.edu	37	7	123269087	123269088	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:123269087_123269088delGA	uc003vku.1	+	9	1331_1332	c.1039_1040delGA	c.(1039-1041)gacfs	p.D347fs	ASB15_uc003vkw.1_Frame_Shift_Del_p.D347fs	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	347					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCAGAGCTATGACGATGAGAGG	0.455													55	162	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													9	12	---	---	---	---					
DOCK5	80005	broad.mit.edu	37	8	26227744	26227761	+	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	AAGCCTCGCACAGTTCTG	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	uc003xeu.3	+	9	1488_1505	c.1159_1176delAAGCCTCGCACAGTTCTG	c.(1159-1176)aagcctcgcacagttctgdel	p.KPRTVL387del	DOCK5_uc003xek.3_In_Frame_Del_p.KPRTVL388del|DOCK5_uc011laf.2_In_Frame_Del_p.KPRTVL397del|DOCK5_uc022atb.1_Non-coding_Transcript	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	446						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R389H(1)|p.A389T(1)|p.R389R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA	0.431													18	37	---	---	---	---					
TSPAN32	10077	broad.mit.edu	37	11	2337873	2337874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:2337873_2337874insG	uc001lvy.1	+	7	832_833	c.695_696insG	c.(694-696)aagfs	p.K232fs	TSPAN32_uc010qxk.2_3'UTR|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Frame_Shift_Ins_p.K202fs|TSPAN32_uc001lwb.1_Frame_Shift_Ins_p.K202fs|TSPAN32_uc001lwc.1_Frame_Shift_Ins_p.K177fs|TSPAN32_uc001lwd.1_Frame_Shift_Ins_p.K164fs	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	232					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TTGGACCGCAAGGGCAAATACA	0.658													75	78	---	---	---	---					
SLCO2B1	11309	broad.mit.edu	37	11	74904334	74904335	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:74904334_74904335insTG	uc001owb.3	+	8	1542_1543	c.1147_1148insTG	c.(1147-1149)ttgfs	p.L383fs	SLCO2B1_uc010rrq.2_Frame_Shift_Ins_p.L128fs|SLCO2B1_uc010rrr.2_Frame_Shift_Ins_p.L239fs|SLCO2B1_uc010rrs.2_Frame_Shift_Ins_p.L267fs|SLCO2B1_uc001owc.3_Frame_Shift_Ins_p.L156fs|SLCO2B1_uc001owd.3_Frame_Shift_Ins_p.L361fs	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	383					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCAGGTATGCTTGTCATCCATG	0.624													71	91	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42795608	42795609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:42795608_42795609insC	uc002otf.1	+	9	2728_2729	c.2688_2689insC	c.(2686-2691)ccacccfs	p.P896fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	896	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCCGCCCCACCCCCCAAAGG	0.609			"""Mis, F, S"""		oligodendroglioma								88	17	---	---	---	---					
