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
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	T	T	rs66505048		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr22:38119859C>T	uc003atr.3	+	6	1567	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	TRIOBP_uc003atu.3_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000														155			6		0	0	0.307466	0	0
abParts	0	broad.mit.edu	37	14	106791017	106791017	+	RNA	SNP	A	G	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr14:106791017A>G	uc021ser.1	-	619		c.17375T>C								Parts of antibodies, mostly variable regions.																		TCGCACAGTAATACACAGCCG	0.567000														770			105		0	0	0.870114	0	0
RBPJ	3516	broad.mit.edu	37	4	26422326	26422326	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:26422326C>T	uc003grx.2	+	5	750	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	RBPJ_uc003gry.2_Nonsense_Mutation_p.Q157*|RBPJ_uc003grz.2_Nonsense_Mutation_p.Q172*|RBPJ_uc011bxt.2_Nonsense_Mutation_p.Q172*|RBPJ_uc003gsa.2_Nonsense_Mutation_p.Q158*|RBPJ_uc003gsb.2_Nonsense_Mutation_p.Q159*	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	172					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAAAAAGAAGCAGTCATTGAA	0.363000														3			24		0	0	0.667858	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000														56			5		0	0	0.184627	0	0
HHLA2	11148	broad.mit.edu	37	3	108074123	108074123	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:108074123T>C	uc003dwz.3	+	4	994	c.580T>C	c.(580-582)Tct>Cct	p.S194P	HHLA2_uc011bhl.2_Missense_Mutation_p.S130P|HHLA2_uc010hpu.3_Missense_Mutation_p.S194P|HHLA2_uc003dwy.4_Missense_Mutation_p.S194P	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	194	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGATTCTTTTTCTATTAACAG	0.388000														71			10		0	0	0.387290	0	0
KLHL38	340359	broad.mit.edu	37	8	124664667	124664667	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr8:124664667G>A	uc003yqs.1	-	0	524	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	167	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGCCGATGCGGCCACCTCTGG	0.567000														61			59		0	0	0.870114	0	0
SURF4	6836	broad.mit.edu	37	9	136230559	136230559	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:136230559G>A	uc004cdj.3	-	5	750	c.620C>T	c.(619-621)aCt>aTt	p.T207I	SURF4_uc011mda.2_Missense_Mutation_p.T198I|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Missense_Mutation_p.T164I|SURF4_uc011mdc.2_Missense_Mutation_p.T164I	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	207						ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CACAACAAGAGTCAAAGCAGC	0.443000														47			3		0	0	0.115264	0	0
MYH4	4622	broad.mit.edu	37	17	10350515	10350515	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:10350515C>A	uc002gmn.3	-	34	5095	c.4984G>T	c.(4984-4986)Gat>Tat	p.D1662Y	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGGCATCATCCAAATGTAGC	0.453000														40			25		3.01185e-09	3.20616e-09	0.667858	1	0
ANO5	203859	broad.mit.edu	37	11	22271916	22271916	+	Splice_Site	SNP	A	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:22271916A>T	uc001mqi.2	+	10	1330	c.1013_splice	c.e10+1	p.S338_splice	ANO5_uc001mqj.2_Splice_Site_p.S337_splice	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	338						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACACAAGCAGGTAAGTGCA	0.363000														30			18		0	0	0.557998	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802585	26802585	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:26802585C>T	uc001iss.3	+	7	1130	c.809C>T	c.(808-810)cCc>cTc	p.P270L	APBB1IP_uc009xks.1_Missense_Mutation_p.P270L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	270					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTAAAAACCCCCAGGTAAGA	0.348000														79			60		0	0	0.870114	0	0
ARID1A	8289	broad.mit.edu	37	1	27101342	27101342	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:27101342G>T	uc001bmv.1	+	17	4997	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.E1541*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.E1159*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E388*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1542					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.E1542*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAACCACGAAGGCTCGTG	0.642000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									4			42		1.62957e-23	1.79253e-23	0.840704	1	0
EPHA3	2042	broad.mit.edu	37	3	89498454	89498454	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:89498454G>T	uc003dqy.3	+	13	2651	c.2426G>T	c.(2425-2427)aGt>aTt	p.S809I	EPHA3_uc021xbf.1_Missense_Mutation_p.S809I	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	809	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATGTATGGAGTTATGGGATT	0.448000										TSP Lung(6;0.00050)				66			53		3.73128e-16	4.03713e-16	0.870114	1	0
KIAA1244	57221	broad.mit.edu	37	6	138657616	138657616	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:138657616T>C	uc003qhu.3	+	33	6698	c.6527T>C	c.(6526-6528)aTt>aCt	p.I2176T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2176					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATGACATCATTGTGTAGCCG	0.552000														42			39		0	0	0.796494	0	0
OR4K17	390436	broad.mit.edu	37	14	20586367	20586367	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr14:20586367C>T	uc001vwo.1	+	0	802	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R268L(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTAAAGCCCGTTCCACTTT	0.438000														53			48		0	0	0.870114	0	0
USP9X	8239	broad.mit.edu	37	X	41057788	41057788	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chrX:41057788T>C	uc004dfb.3	+	29	5021	c.4388T>C	c.(4387-4389)aTt>aCt	p.I1463T	USP9X_uc004dfc.3_Missense_Mutation_p.I1463T	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1463					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGGAATTAATTGATGATTTC	0.318000														2			21		0	0	0.608945	0	0
HK1	3098	broad.mit.edu	37	10	71136763	71136763	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:71136763G>A	uc001jpl.4	+	7	1050	c.949G>A	c.(949-951)Ggc>Agc	p.G317S	HK1_uc001jpg.4_Missense_Mutation_p.G305S|HK1_uc001jph.4_Missense_Mutation_p.G321S|HK1_uc001jpi.4_Missense_Mutation_p.G321S|HK1_uc001jpj.4_Missense_Mutation_p.G352S|HK1_uc001jpk.4_Missense_Mutation_p.G316S|HK1_uc009xqd.3_Missense_Mutation_p.G195S	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	317	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGCCAAGGAGGGCCTCTTATT	0.537000														74			65		0	0	0.870114	0	0
MATR3	9782	broad.mit.edu	37	5	138643853	138643853	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:138643853A>G	uc003ldw.3	+	2	1152	c.749A>G	c.(748-750)tAt>tGt	p.Y250C	MATR3_uc003lds.3_Missense_Mutation_p.Y250C|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.Y250C|MATR3_uc010jfb.3_Missense_Mutation_p.Y250C|MATR3_uc003ldx.3_Missense_Mutation_p.Y250C|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.Y250C|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	250						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGTGAGTATGAGAGAATG	0.418000														58			22		0	0	0.624587	0	0
MTO1	25821	broad.mit.edu	37	6	74191908	74191908	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:74191908G>A	uc010kav.3	+	8	1650	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	MTO1_uc003pgy.4_Missense_Mutation_p.R494Q|MTO1_uc003pgz.4_Missense_Mutation_p.R469Q|MTO1_uc003pha.4_Missense_Mutation_p.R131Q|MTO1_uc003phb.4_Missense_Mutation_p.R420Q	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	494					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTTACCAGCCGAGTAGAGTTC	0.527000														72			7		0	0	0.248553	0	0
FUBP3	8939	broad.mit.edu	37	9	133506050	133506050	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:133506050G>A	uc004bzr.1	+	12	1261	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	385	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCAGCAGTCAGGGGCGCACGT	0.612000														60			37		0	0	0.827153	0	0
MUC15	143662	broad.mit.edu	37	11	26584807	26584807	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:26584807T>C	uc001mqw.3	-	3	1054	c.781A>G	c.(781-783)Aga>Gga	p.R261G	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.R234G|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	234						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCTGTATTTCTATTTTCTACA	0.328000														53			6		0	0	0.217242	0	0
FMN2	56776	broad.mit.edu	37	1	240371098	240371098	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:240371098G>A	uc010pye.2	+	5	3223	c.2998G>A	c.(2998-3000)Ggc>Agc	p.G1000S	FMN2_uc010pyd.2_Missense_Mutation_p.G996S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	996	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGGAGCGGGCATACCCCC	0.706000														40			3		0	0	0.115264	0	0
SCYL1	57410	broad.mit.edu	37	11	65303494	65303494	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:65303494C>T	uc001oea.1	+	10	1534	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SCYL1_uc009yqk.3_Missense_Mutation_p.A486V|SCYL1_uc001oeb.1_Missense_Mutation_p.A486V|SCYL1_uc001oec.1_Missense_Mutation_p.A486V|SCYL1_uc001oee.1_Missense_Mutation_p.A130V	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	486					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TCCCGGGTTGCGGGTGTCCTG	0.597000														51			28		0	0	0.717897	0	0
TARS	6897	broad.mit.edu	37	5	33445453	33445453	+	Silent	SNP	A	G	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:33445453A>G	uc003jhy.3	+	1	376	c.81A>G	c.(79-81)caA>caG	p.Q27Q	TARS_uc010iup.1_5'UTR|TARS_uc011coc.2_Silent_p.Q15Q|TARS_uc003jhz.3_5'UTR|TARS_uc011cod.2_5'UTR	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	27					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGAGAAGCAAAAGGAAGGAG	0.423000														16			4		0	0	0.150653	0	0
CASD1	64921	broad.mit.edu	37	7	94163000	94163000	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:94163000A>G	uc003uni.4	+	6	741	c.514A>G	c.(514-516)Aag>Gag	p.K172E	CASD1_uc003unh.2_Missense_Mutation_p.K172E|CASD1_uc003unj.4_Missense_Mutation_p.K172E	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	172						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGGTCCATCAAGATTCACAA	0.294000														54			26		0	0	0.681144	0	0
EXTL1	2134	broad.mit.edu	37	1	26361731	26361731	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:26361731T>C	uc001blf.3	+	10	2791	c.1924T>C	c.(1924-1926)Ttc>Ctc	p.F642L		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	642					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGCAGCGTTCGGCCACAT	0.642000														7			45		0	0	0.870114	0	0
PTPRB	5787	broad.mit.edu	37	12	70980859	70980859	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr12:70980859G>A	uc001swb.4	-	6	1615	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	PTPRB_uc010sto.2_Nonsense_Mutation_p.R529*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R439*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R747*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R747*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R746*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R626*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	529	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTATTTTCGTCCAGGCACC	0.378000														53			55		0	0	0.870114	0	0
AKD1	221264	broad.mit.edu	37	6	109854548	109854548	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:109854548C>T	uc003ptn.2	-	27	3553	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	AKD1_uc011eat.1_Missense_Mutation_p.R238H	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1159					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						AGGAAGGAGGCGATCAAAAAT	0.383000														38			34		0	0	0.779181	0	0
ALB	213	broad.mit.edu	37	4	74280861	74280861	+	Missense_Mutation	SNP	C	T	T	rs141343001		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:74280861C>T	uc003hgs.4	+	8	1241	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	ALB_uc011cbe.2_Missense_Mutation_p.P69S|ALB_uc003hgw.4_Missense_Mutation_p.P198S|ALB_uc011cbf.2_Missense_Mutation_p.P280S	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	390	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.P390S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CGCTGCAGATCCTCATGAATG	0.398000														5			40		0	0	0.847076	0	0
INTS3	65123	broad.mit.edu	37	1	153745465	153745465	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:153745465C>T	uc009wom.3	+	29	3180	c.2959C>T	c.(2959-2961)Cgg>Tgg	p.R987W	INTS3_uc001fct.3_Missense_Mutation_p.R987W|INTS3_uc001fcu.3_Missense_Mutation_p.R679W|INTS3_uc001fcv.3_Missense_Mutation_p.R781W|INTS3_uc010peb.2_Missense_Mutation_p.R847W|INTS3_uc001fcw.3_Missense_Mutation_p.R500W|INTS3_uc010pec.2_Missense_Mutation_p.R500W|INTS3_uc001fcx.3_Missense_Mutation_p.R284W|INTS3_uc001fcy.3_Missense_Mutation_p.R350W	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	988					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAAGAGCCGGCGAAAAGC	0.557000														92			59		0	0	0.870114	0	0
MUC4	4585	broad.mit.edu	37	3	195515511	195515511	+	Silent	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:195515511G>A	uc021xjp.1	-	1	3096	c.2940C>T	c.(2938-2940)acC>acT	p.T980T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	985	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCGTAGGTGACAGGAA	0.572000														24			9		0	0	0.387290	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	134913	134913	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chrGL000209.1:134913T>C	uc002quo.2	+	2	237	c.218T>C	c.(217-219)aTt>aCt	p.I73T	KIR2DL2_uc021vdc.1_Missense_Mutation_p.I73T|KIR2DL2_uc021vdd.1_Missense_Mutation_p.I73T|KIR2DL2_uc010evk.1_Intron|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Missense_Mutation_p.I73T	NM_012312	NP_036444	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA.	73	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTGCACCTCATTGGAGAGCAC	0.498000														6			3		0	0	0.150653	0	0
DDX17	10521	broad.mit.edu	37	22	38890947	38890947	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr22:38890947T>C	uc003avy.4	-	6	1088	c.985A>G	c.(985-987)Aga>Gga	p.R329G	DDX17_uc003avx.4_Missense_Mutation_p.R329G|DDX17_uc011anu.2_Missense_Mutation_p.R242G	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	250	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAGCATTCTGTCAGCTTCG	0.428000														80			50		0	0	0.870114	0	0
KCNN3	3782	broad.mit.edu	37	1	154842348	154842348	+	Silent	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:154842348C>T	uc021pah.1	-	0	407	c.93G>A	c.(91-93)caG>caA	p.Q31Q	KCNN3_uc001ffp.3_Silent_p.Q31Q|KCNN3_uc009wox.1_Silent_p.Q31Q	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	31	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			gctgctgctgctgctgctCAT	0.672000														6			3		0	0	0.115264	0	0
RNF213	57674	broad.mit.edu	37	17	78320934	78320934	+	Silent	SNP	G	A	A	rs141391616		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:78320934G>A	uc002jyh.2	+	29	9089	c.8946G>A	c.(8944-8946)gcG>gcA	p.A2982A	RNF213_uc021uen.1_Silent_p.A2933A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0								p.A1006A(1)|p.A2982A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTACTTTGCGTCCTTTGCCA	0.547000														23			28		0	0	0.717897	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	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									40			25		0	0	0.706142	0	0
UTP18	51096	broad.mit.edu	37	17	49371388	49371388	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:49371388G>A	uc002its.3	+	11	1677	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA.	543				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AATGAAAAGGGCAAGGCCCTG	0.333000														30			24		0	0	0.693898	0	0
ZFHX3	463	broad.mit.edu	37	16	72827287	72827287	+	Silent	SNP	T	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr16:72827287T>C	uc002fck.3	-	8	9967	c.9294A>G	c.(9292-9294)caA>caG	p.Q3098Q	ZFHX3_uc002fcl.3_Silent_p.Q2184Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3098					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAAACATCCCTTGCTGCTGAG	0.547000														225			6		0	0	0.248553	0	0
MARK2	2011	broad.mit.edu	37	11	63667348	63667348	+	Silent	SNP	A	G	G			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:63667348A>G	uc001nxw.3	+	7	1113	c.534A>G	c.(532-534)gcA>gcG	p.A178A	MARK2_uc001nxv.4_Silent_p.A178A|MARK2_uc001nxx.3_Silent_p.A178A|MARK2_uc001nxy.3_Silent_p.A178A|MARK2_uc001nxz.4_Silent_p.A145A|MARK2_uc009yoy.3_Silent_p.A145A	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	178	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCCCAGGCAGAAAACCTGC	0.498000														165			153		0	0	0.870114	0	0
CFTR	1080	broad.mit.edu	37	7	117304899	117304899	+	Missense_Mutation	SNP	C	T	T	rs115147093	by1000genomes	TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:117304899C>T	uc003vjd.3	+	24	4253	c.4121C>T	c.(4120-4122)gCt>gTt	p.A1374V	CFTR_uc011knq.2_Missense_Mutation_p.A780V	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1374	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAACCCAGTGCTCATTTGGAT	0.453000									Cystic Fibrosis					215			63		0	0	0.870114	0	0
EHMT2	10919	broad.mit.edu	37	6	31856769	31856769	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:31856769C>T	uc003nxz.1	-	9	1203	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	EHMT2_uc003nxy.1_Missense_Mutation_p.G189E|EHMT2_uc011don.1_Intron|EHMT2_uc003nya.1_Intron	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	398					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGAGAGGGTCCCCTCGCTGGG	0.632000														11			14		0	0	0.520397	0	0
EDAR	10913	broad.mit.edu	37	2	109539871	109539871	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr2:109539871C>T	uc010fjn.3	-	5	942	c.395G>A	c.(394-396)gGc>gAc	p.G132D	EDAR_uc010yws.2_Missense_Mutation_p.G132D|EDAR_uc002teq.4_Missense_Mutation_p.G132D	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	132					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCAGACCATGCCATAGATGTT	0.542000														74			52		0	0	0.870114	0	0
ENTPD6	955	broad.mit.edu	37	20	25201921	25201921	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr20:25201921G>C	uc002wuj.2	+	10	1177	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	ENTPD6_uc010zsy.1_Missense_Mutation_p.E333Q|ENTPD6_uc010gdj.1_Missense_Mutation_p.E305Q|ENTPD6_uc002wum.2_Missense_Mutation_p.E316Q|ENTPD6_uc010zta.1_Missense_Mutation_p.E333Q|ENTPD6_uc002wuk.2_Missense_Mutation_p.E332Q|ENTPD6_uc002wul.2_Missense_Mutation_p.E332Q|ENTPD6_uc010ztb.1_Missense_Mutation_p.E305Q|ENTPD6_uc010ztc.1_Missense_Mutation_p.E305Q|ENTPD6_uc002wuo.2_Missense_Mutation_p.E85Q|ENTPD6_uc010zsz.1_Missense_Mutation_p.E115Q|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdl.1_5'Flank|ENTPD6_uc010gdk.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	333						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.G332V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TTTCAAAGGAGAGTGGGAACA	0.517000														105			5		0	0	0.248553	0	0
CDC20	991	broad.mit.edu	37	1	43824985	43824985	+	Silent	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:43824985G>A	uc001cix.3	+	1	200	c.99G>A	c.(97-99)aaG>aaA	p.K33K	CDC20_uc001ciy.3_Silent_p.K33K	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	33					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAAAGCCAAGGAAGCCGCAG	0.677000														37			4		0	0	0.184627	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118102	118102	+	RNA	SNP	T	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chrGL000205.1:118102T>A	uc002kgk.4	+	0		c.1480T>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TCATCTGCACTCCTCTCACTG	0.567000														54			6		0	0	0.248553	0	0
ZNF71	58491	broad.mit.edu	37	19	57133636	57133636	+	Silent	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr19:57133636G>A	uc002qnm.4	+	2	1219	c.981G>A	c.(979-981)gtG>gtA	p.V327V	ZNF71_uc021vcg.1_Silent_p.V327V	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCCTACGTGTGCGGCGAGT	0.642000														41			27		0	0	0.740014	0	0
KRT25	147183	broad.mit.edu	37	17	38906790	38906790	+	Silent	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:38906790C>T	uc002hve.3	-	5	1078	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(4)|p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562000														148			113		0	0	0.870114	0	0
ARMC3	219681	broad.mit.edu	37	10	23287189	23287189	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:23287189C>A	uc001irm.4	+	10	1371	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	ARMC3_uc010qcv.2_Missense_Mutation_p.P430T|ARMC3_uc010qcw.2_Missense_Mutation_p.P167T	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	430							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCAGGAGCCCCTGCGCCT	0.493000														14			12		6.40141e-05	6.70624e-05	0.387290	1	0
SOGA2	23255	broad.mit.edu	37	18	8793017	8793017	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr18:8793017C>T	uc002knr.2	+	7	2051	c.1909C>T	c.(1909-1911)Cct>Tct	p.P637S	SOGA2_uc002knq.2_Intron|SOGA2_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	980																	CCCCGTTTTACCTGAGCAGAG	0.527000														128			113		0	0	0.870114	0	0
ABCC2	1244	broad.mit.edu	37	10	101594197	101594197	+	Silent	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:101594197C>T	uc001kqf.2	+	23	3458	c.3319C>T	c.(3319-3321)Ctg>Ttg	p.L1107L		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1107	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TACATGCTTCCTGGGGATAAT	0.478000														152			5		0	0	0.184627	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				20			3		0	0	0.115264	0	0
USP7	7874	broad.mit.edu	37	16	9000424	9000424	+	Silent	SNP	C	T	T			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr16:9000424C>T	uc002czl.2	-	12	1486	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	USP7_uc010uyk.1_Silent_p.E330E|USP7_uc010uyj.1_Silent_p.E330E|USP7_uc002czk.2_Silent_p.E413E|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	429					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTGGTAACTGCTCTGGGAATT	0.318000														36			37		0	0	0.804634	0	0
UBE4B	10277	broad.mit.edu	37	1	10182079	10182079	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:10182079G>A	uc021ogc.1	+	10	2340	c.1652G>A	c.(1651-1653)gGc>gAc	p.G551D	UBE4B_uc001aqs.4_Missense_Mutation_p.G500D|UBE4B_uc001aqr.4_Missense_Mutation_p.G371D|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	500					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCCCATATGGCTTCATTCAG	0.493000														66			12		0	0	0.435327	0	0
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	CTG	CTG	rs35574083		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:55505552_55505553insCTG	uc001cyf.2	+	0	404_405	c.42_43insCTG	c.(40-45)insCTG	p.23_24insL	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													---	2	---	---	8	---					
TATDN2	9797	broad.mit.edu	37	3	10291133	10291135	+	In_Frame_Del	DEL	CTT	-	-	rs148201381		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:10291133_10291135delCTT	uc011atr.2	+	1	830_832	c.249_251delCTT	c.(247-252)tccttc>tcc	p.F84del	TATDN2_uc003bvg.2_In_Frame_Del_p.F84del|TATDN2_uc003bvf.3_In_Frame_Del_p.F84del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	84						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.F84fs*19(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCTCCTCCTCCTTCTCCCCACAT	0.631													---	334	---	---	61	---					
BUB3	9184	broad.mit.edu	37	10	124921819	124921821	+	In_Frame_Del	DEL	AGA	-	-			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:124921819_124921821delAGA	uc001lhe.2	+	5	886_888	c.644_646delAGA	c.(643-648)cagaag>cag	p.K218del	BUB3_uc009yah.2_In_Frame_Del_p.K170del|BUB3_uc001lhf.4_In_Frame_Del_p.K218del|BUB3_uc001lhd.2_In_Frame_Del_p.K218del|BUB3_uc010qud.1_In_Frame_Del_p.K138del	NM_004725	NP_004716	O43684	BUB3_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA.	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCTGAGGTACAGAAGAAGAAGTA	0.389													---	334	---	---	9	---					
