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
ANAPC1	64682	broad.mit.edu	37	2	112608431	112608431	+	Silent	SNP	T	T	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:112608431T>G	ENST00000341068.3	-	14	2344	c.1572A>C	c.(1570-1572)acA>acC	p.T524T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	524					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCCGAGGCATTGTGTTGGACA	0.433000													35	33					0	0	0.006230	0	0
NRXN2	9379	broad.mit.edu	37	11	64434761	64434761	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:64434761C>T	ENST00000265459.6	-	9	2220	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	NRXN2_ENST00000409571.1_Missense_Mutation_p.E580K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E587K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E556K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	587	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding	p.E587K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGACACCACTCGCCATCATTG	0.592000													21	76					0	0	0.010504	0	0
CSN3	1448	broad.mit.edu	37	4	71114802	71114802	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:71114802G>C	ENST00000304954.3	+	4	261	c.175G>C	c.(175-177)Gga>Cga	p.G59R		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	59						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCCTTATTATGGAACCAATTT	0.388000													20	63					0	0	0.002299	0	0
NR0B2	8431	broad.mit.edu	37	1	27238458	27238458	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:27238458G>A	ENST00000254227.3	-	2	677	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	218	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGTGAGGAGGACACGGGTC	0.622000													22	91					0	0	0.002299	0	0
FANCG	2189	broad.mit.edu	37	9	35077366	35077366	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:35077366G>A	ENST00000378643.3	-	5	1032	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	181					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAAGTTTTCAGAAGTAACAGC	0.517000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks					16	65					0	0	0.006122	0	0
ZNF70	7621	broad.mit.edu	37	22	24087105	24087105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr22:24087105G>A	ENST00000341976.3	-	2	683	c.223C>T	c.(223-225)Cag>Tag	p.Q75*		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	75						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CTTTGATGCTGAACAGGGCTT	0.493000													47	88					0	0	0.013114	0	0
SYMPK	8189	broad.mit.edu	37	19	46332275	46332275	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:46332275G>A	ENST00000245934.7	-	14	2182	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	646					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACAGGCGGATGAGGCAGTCCT	0.652000													30	57					0	0	0.008361	0	0
COL9A1	1297	broad.mit.edu	37	6	70935673	70935673	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:70935673C>A	ENST00000357250.6	-	37	2701	c.2543G>T	c.(2542-2544)aGa>aTa	p.R848I	COL9A1_ENST00000320755.7_Missense_Mutation_p.R605I|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.R605I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	848	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTTGGGACCTCTTCCTGGAGG	0.453000													21	40					1.96895e-08	2.9082e-08	0.002780	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367750	145367750	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:145367750G>A	ENST00000342960.5	+	83	10381	c.10346G>A	c.(10345-10347)gGa>gAa	p.G3449E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3449										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aaaagaaggggaagaagatca	0.418000													5	90					0	0	0.000602	0	0
HELLS	3070	broad.mit.edu	37	10	96352226	96352226	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:96352226C>T	ENST00000348459.5	+	17	2031	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Silent_p.F688F|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Silent_p.F544F	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	642	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ATTTCAACTTCAGCAGGCTTG	0.338000													30	29					0	0	0.008361	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498169	32498169	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr22:32498169C>G	ENST00000266088.4	+	13	1860	c.1610C>G	c.(1609-1611)tCt>tGt	p.S537C	SLC5A1_ENST00000543737.1_Missense_Mutation_p.S410C	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	537					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCGCCATTTCTTTCATCACC	0.488000													13	115					0	0	0.001855	0	0
BGLAP	632	broad.mit.edu	37	1	156212041	156212041	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:156212041C>T	ENST00000368272.4	+	1	289	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000320139.5_Intron|PMF1-BGLAP_ENST00000490491.1_Intron	NM_199173.4	NP_954642.1	P02818	OSTCN_HUMAN	bone gamma-carboxyglutamate (gla) protein	7					bone mineralization|cell adhesion|odontogenesis|regulation of bone mineralization|regulation of bone resorption|regulation of osteoclast differentiation		calcium ion binding|hydroxyapatite binding|structural constituent of bone	p.L7I(1)		large_intestine(3)|lung(1)|urinary_tract(1)	5	Hepatocellular(266;0.158)				Phytonadione(DB01022)	CCTCACACTCCTCGCCCTATT	0.657000													8	28					0	0	0.003080	0	0
CR2	1380	broad.mit.edu	37	1	207642005	207642005	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:207642005G>A	ENST00000367057.3	+	3	768	c.579G>A	c.(577-579)aaG>aaA	p.K193K	CR2_ENST00000367059.3_Silent_p.K193K|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Silent_p.K193K|CR2_ENST00000367058.3_Silent_p.K193K	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	193	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGGAGAAAAGATCATTAACT	0.428000													17	107					0	0	0.006122	0	0
CHD7	55636	broad.mit.edu	37	8	61654172	61654172	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr8:61654172C>G	ENST00000423902.2	+	2	660	c.181C>G	c.(181-183)Caa>Gaa	p.Q61E	CHD7_ENST00000524602.1_Missense_Mutation_p.Q61E|CHD7_ENST00000525508.1_Missense_Mutation_p.Q61E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	61					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCAACTAATCAAAATCAAAC	0.413000													4	13					0	0	0.000602	0	0
EDNRA	1909	broad.mit.edu	37	4	148463668	148463668	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:148463668G>A	ENST00000324300.5	+	8	1697	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	EDNRA_ENST00000339690.5_3'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000511804.1_Silent_p.L169L|EDNRA_ENST00000506066.1_Silent_p.L285L|EDNRA_ENST00000358556.4_Silent_p.L285L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	394					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CCAAAAGTCTGATGACCTCGG	0.537000													11	45					0	0	0.010729	0	0
NOBOX	135935	broad.mit.edu	37	7	144101655	144101655	+	Silent	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:144101655G>C	ENST00000467773.1	-	2	203	c.204C>G	c.(202-204)ctC>ctG	p.L68L	NOBOX_ENST00000483238.1_Silent_p.L68L	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	68					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTACTGATTTGAGGGTCTCCA	0.552000													12	19					0	0	0.010729	0	0
ZNF827	152485	broad.mit.edu	37	4	146686228	146686228	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:146686228C>G	ENST00000508784.1	-	13	3369	c.3142G>C	c.(3142-3144)Gag>Cag	p.E1048Q	ZNF827_ENST00000379448.4_Missense_Mutation_p.E1048Q|ZNF827_ENST00000513320.1_Missense_Mutation_p.E698Q			Q17R98	ZN827_HUMAN	zinc finger protein 827	1048					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACATCACACTCAAACATCCGG	0.498000													13	52					0	0	0.003163	0	0
ANKRD26	22852	broad.mit.edu	37	10	27311576	27311576	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:27311576C>T	ENST00000376087.4	-	29	4291	c.4126G>A	c.(4126-4128)Gaa>Aaa	p.E1376K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1392K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E933K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1375						centrosome		p.E1376K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTCATATTCATTTAACTTC	0.249000													4	42					0	0	0.000602	0	0
KIF20B	9585	broad.mit.edu	37	10	91479204	91479204	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:91479204C>G	ENST00000416354.1	+	13	1535	c.1463C>G	c.(1462-1464)tCt>tGt	p.S488C	KIF20B_ENST00000371728.3_Missense_Mutation_p.S488C|KIF20B_ENST00000260753.4_Missense_Mutation_p.S488C|KIF20B_ENST00000394289.2_Missense_Mutation_p.S488C			Q96Q89	KI20B_HUMAN	kinesin family member 20B	488					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTAAATTCCTCTCAAGAGAAA	0.299000													11	29					0	0	0.001368	0	0
NARF	26502	broad.mit.edu	37	17	80422294	80422294	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:80422294G>A	ENST00000309794.11	+	3	438	c.240G>A	c.(238-240)ctG>ctA	p.L80L	NARF_ENST00000345415.7_Intron|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000390006.4_Silent_p.L21L|NARF_ENST00000457415.3_Silent_p.L80L|NARF_ENST00000581743.1_3'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCGCGTTCTGAACCTTAACA	0.532000													21	38					0	0	0.012319	0	0
CELF1	10658	broad.mit.edu	37	11	47498979	47498979	+	Splice_Site	SNP	T	T	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:47498979T>C	ENST00000395290.2	-	8	770		c.e8-2		CELF1_ENST00000358597.3_Splice_Site|CELF1_ENST00000532048.1_Splice_Site|CELF1_ENST00000310513.5_Splice_Site|CELF1_ENST00000361904.3_Splice_Site|CELF1_ENST00000531165.1_Splice_Site|CELF1_ENST00000395292.2_Splice_Site	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1						embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CATTCAACCCTACAACATCCA	0.488000													13	44					0	0	0.001855	0	0
LPCAT1	79888	broad.mit.edu	37	5	1463832	1463832	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:1463832G>A	ENST00000283415.3	-	14	1671	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	LPCAT1_ENST00000503252.1_5'UTR	NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	513					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		AATCGGCACAGAAGCCGTTTG	0.582000													8	175					0	0	0.003080	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499486	34499486	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:34499486G>A	ENST00000538621.1	+	9	1392	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	PACSIN1_ENST00000374043.2_Missense_Mutation_p.D341N|PACSIN1_ENST00000244458.2_Missense_Mutation_p.D383N	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	383					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CCCCTTTGAGGACGACTCCAA	0.657000													35	185					0	0	0.003271	0	0
PCF11	51585	broad.mit.edu	37	11	82877286	82877286	+	Silent	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:82877286C>A	ENST00000298281.4	+	5	1799	c.1347C>A	c.(1345-1347)atC>atA	p.I449I		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	449					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GAAATAAAATCATAAATGGCA	0.378000													5	18					1.26484e-09	1.88823e-09	0.003080	1	0
SLC24A1	9187	broad.mit.edu	37	15	65946369	65946369	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:65946369C>G	ENST00000261892.6	+	10	3539	c.3252C>G	c.(3250-3252)atC>atG	p.I1084M	SLC24A1_ENST00000546330.1_Missense_Mutation_p.I1066M|SLC24A1_ENST00000399033.4_Missense_Mutation_p.I1054M|SLC24A1_ENST00000544319.2_Missense_Mutation_p.I970M|SLC24A1_ENST00000537259.1_Intron|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000339868.6_Missense_Mutation_p.I1066M	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	1084					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTGATAATCAGTGTGATGT	0.408000													21	63					0	0	0.010504	0	0
KSR2	283455	broad.mit.edu	37	12	117968788	117968788	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:117968788C>T	ENST00000425217.1	-	12	1727	c.1673G>A	c.(1672-1674)cGg>cAg	p.R558Q	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R587Q|KSR2_ENST00000302438.5_Missense_Mutation_p.R284Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	587					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGGCGCCCGGGTCGGCGT	0.557000													28	68					0	0	0.010818	0	0
ATP10B	23120	broad.mit.edu	37	5	160033898	160033898	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:160033898C>G	ENST00000327245.5	-	19	3880	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1012					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTCTTCTCTAGCTTTCCC	0.507000													13	73					0	0	0.001368	0	0
AIM1	202	broad.mit.edu	37	6	106969025	106969025	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:106969025C>T	ENST00000369066.3	+	2	3205	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	906							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCTTCAATTTCAACTCGTCAA	0.458000													19	99					0	0	0.008871	0	0
DNAH5	1767	broad.mit.edu	37	5	13862767	13862767	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:13862767G>A	ENST00000265104.4	-	29	4790	c.4686C>T	c.(4684-4686)ttC>ttT	p.F1562F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1562	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAAAGCTGCCGAAGGTGAATG	0.458000									Kartagener syndrome				16	284					0	0	0.006122	0	0
NNT	23530	broad.mit.edu	37	5	43649344	43649344	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:43649344C>G	ENST00000264663.5	+	11	1761	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	NNT_ENST00000344920.4_Missense_Mutation_p.H514D|NNT_ENST00000512996.2_Missense_Mutation_p.H383D	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	514					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGTGGGGTATCATACCGTCTG	0.507000													35	595					0	0	0.002836	0	0
LURAP1L	286343	broad.mit.edu	37	9	12775741	12775741	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:12775741C>T	ENST00000319264.3	+	1	722	c.27C>T	c.(25-27)ctC>ctT	p.L9L	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	9																	TGCCAGACCTCAGAGACATCG	0.587000													12	25					0	0	0.001368	0	0
GCC2	9648	broad.mit.edu	37	2	109087004	109087004	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:109087004G>A	ENST00000309863.6	+	6	1933	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	407					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATTAAAATCTGAGCTAGCAGG	0.313000													46	30					0	0	0.003610	0	0
OR5H14	403273	broad.mit.edu	37	3	97868604	97868604	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:97868604C>T	ENST00000437310.1	+	1	435	c.375C>T	c.(373-375)gcC>gcT	p.A125A		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTATGTAGCCATATGCAAAC	0.403000													24	173					0	0	0.003330	0	0
PQLC3	130814	broad.mit.edu	37	2	11312124	11312124	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:11312124G>A	ENST00000295083.3	+	5	603	c.428G>A	c.(427-429)gGa>gAa	p.G143E	PQLC3_ENST00000441908.2_Missense_Mutation_p.G143E|PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000402361.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	143						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGAGACTCAGGAACTGTGAGT	0.493000													19	60					0	0	0.007413	0	0
SPATC1	375686	broad.mit.edu	37	8	145095927	145095927	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr8:145095927G>A	ENST00000377470.3	+	3	1327	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	SPATC1_ENST00000447830.2_Missense_Mutation_p.E409K	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	409										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGCACCACAGAACCGTCGAC	0.627000													29	28					0	0	0.006320	0	0
ABCC9	10060	broad.mit.edu	37	12	22069998	22069998	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:22069998G>C	ENST00000261200.4	-	4	445	c.446C>G	c.(445-447)aCa>aGa	p.T149R	ABCC9_ENST00000261201.4_Missense_Mutation_p.T149R|ABCC9_ENST00000345162.2_Missense_Mutation_p.T149R	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	149					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAATTTTATTGTTTTTGTAAT	0.383000													4	126					0	0	0.000602	0	0
DNAH3	55567	broad.mit.edu	37	16	21069457	21069457	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:21069457T>C	ENST00000261383.3	-	27	3873	c.3874A>G	c.(3874-3876)Atc>Gtc	p.I1292V	DNAH3_ENST00000415178.1_Missense_Mutation_p.I1292V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1292	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTCCAAAAGATGGAGGAGACA	0.493000													19	33					0	0	0.006122	0	0
LINC00886	730091	broad.mit.edu	37	3	156527281	156527281	+	RNA	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:156527281G>A	ENST00000472943.1	-	0	148					NR_038387.1																						CACAGAGTCCGGGGTGTGGTG	0.612000													6	29					0	0	0.001168	0	0
PSMC6	5706	broad.mit.edu	37	14	53177836	53177836	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:53177836G>A	ENST00000445930.2	+	5	324	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PSMC6_ENST00000606149.1_Silent_p.L92L			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	92					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AAAGTAAGCTGAAGCCAGGAA	0.333000													8	29					0	0	0.004482	0	0
RNF216	54476	broad.mit.edu	37	7	5781338	5781338	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:5781338C>G	ENST00000389902.3	-	4	577	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	65					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTATCTGATTCAAATGCTGCT	0.443000													42	135					0	0	0.003610	0	0
OR2A25	392138	broad.mit.edu	37	7	143771640	143771640	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:143771640G>C	ENST00000408898.2	+	1	366	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGCACATACAGAATGTCTCCT	0.512000													9	68					0	0	0.006214	0	0
RIPK1	8737	broad.mit.edu	37	6	3105811	3105811	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:3105811G>A	ENST00000259808.4	+	9	1400	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	RIPK1_ENST00000541791.1_Missense_Mutation_p.E322K|RIPK1_ENST00000380409.2_Missense_Mutation_p.E368K|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	368	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCACCCACAAGAAGAGAATGA	0.562000													31	155					0	0	0.009535	0	0
ZC3H4	23211	broad.mit.edu	37	19	47572422	47572422	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:47572422C>T	ENST00000253048.5	-	14	2362	c.2325G>A	c.(2323-2325)caG>caA	p.Q775Q	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	775							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTGCTGCTTCTGCTGGATCC	0.692000													22	82					0	0	0.012319	0	0
COL6A1	1291	broad.mit.edu	37	21	47420265	47420265	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr21:47420265C>T	ENST00000361866.3	+	28	1911	c.1797C>T	c.(1795-1797)atC>atT	p.I599I		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	599	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TTTTGGACATCATCATGAAAA	0.592000													7	49					0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76778781	76778781	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chrX:76778781C>G	ENST00000373344.5	-	31	7012	c.6798G>C	c.(6796-6798)ttG>ttC	p.L2266F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.L2228F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTCTTCAGTCAACTCTTCTT	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						83	39					0	0	0.003610	0	0
CLK1	1195	broad.mit.edu	37	2	201722768	201722768	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:201722768C>G	ENST00000434813.2	-	6	1053	c.719G>C	c.(718-720)aGa>aCa	p.R240T	CLK1_ENST00000321356.4_Missense_Mutation_p.R198T|CLK1_ENST00000409769.2_Missense_Mutation_p.R21T	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	198	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCACAGTATCTATCCACATT	0.383000													22	77					0	0	0.012319	0	0
RAI14	26064	broad.mit.edu	37	5	34823814	34823814	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:34823814G>A	ENST00000265109.3	+	15	2154	c.1867G>A	c.(1867-1869)Gcc>Acc	p.A623T	RAI14_ENST00000506376.1_Missense_Mutation_p.A615T|RAI14_ENST00000428746.2_Missense_Mutation_p.A623T|RAI14_ENST00000512629.1_Missense_Mutation_p.A594T|RAI14_ENST00000503673.1_Missense_Mutation_p.A623T|RAI14_ENST00000397449.1_Missense_Mutation_p.A616T|RAI14_ENST00000515799.1_Missense_Mutation_p.A626T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	623						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GACACAGGAAGCCAGTGATGA	0.388000													12	160					0	0	0.001855	0	0
KRT8	3856	broad.mit.edu	37	12	53294949	53294949	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:53294949G>C	ENST00000552551.1	-	4	1020	c.588C>G	c.(586-588)atC>atG	p.I196M	KRT8_ENST00000552150.1_Missense_Mutation_p.I224M|KRT8_ENST00000546897.1_Missense_Mutation_p.I196M|KRT8_ENST00000293308.6_Missense_Mutation_p.I196M			P05787	K2C8_HUMAN	keratin 8	196	Coil 1B.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACCTTCTTGATGAGGACAA	0.468000													25	73					0	0	0.003954	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413151	105413151	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:105413151C>T	ENST00000333244.5	-	7	8756	c.8637G>A	c.(8635-8637)gtG>gtA	p.V2879V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2879						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGAGTTTCACGTCCACCT	0.617000													12	239					0	0	0.010504	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540300	169540300	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:169540300G>A	ENST00000340806.6	+	1	591	c.591G>A	c.(589-591)gaG>gaA	p.E197E		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	197										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACCTGGACGAGAACAAAATAG	0.512000													17	114					0	0	0.004990	0	0
RNF111	54778	broad.mit.edu	37	15	59368279	59368279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:59368279C>T	ENST00000348370.4	+	7	2246	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q605*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	605					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q605*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTTTGGCCATCAGGCCGCTGC	0.557000													23	70					0	0	0.002780	0	0
SRCAP	10847	broad.mit.edu	37	16	30748804	30748804	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:30748804C>G	ENST00000262518.4	+	34	7828	c.7443C>G	c.(7441-7443)atC>atG	p.I2481M	SRCAP_ENST00000395059.2_Missense_Mutation_p.I2419M|SRCAP_ENST00000344771.4_Missense_Mutation_p.I2323M	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2481	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.I2481I(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGTCCATATCTTGccttctc	0.562000													4	11					0	0	0.009096	0	0
DMD	1756	broad.mit.edu	37	X	32503183	32503183	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chrX:32503183G>C	ENST00000357033.4	-	21	2862	c.2656C>G	c.(2656-2658)Caa>Gaa	p.Q886E	DMD_ENST00000378677.2_Missense_Mutation_p.Q882E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	886					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGTTCAATTTGAGGTTGAAGA	0.378000													12	45					0	0	0.002450	0	0
TOP3A	7156	broad.mit.edu	37	17	18181344	18181344	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:18181344G>A	ENST00000321105.5	-	18	2686	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	TOP3A_ENST00000540524.1_Silent_p.V354V|TOP3A_ENST00000542570.1_Silent_p.V729V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	824	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CCTCCTTACGGACAGTGAGCA	0.617000													11	61					0	0	0.010729	0	0
PPL	5493	broad.mit.edu	37	16	4934524	4934524	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:4934524C>G	ENST00000345988.2	-	22	4221	c.4132G>C	c.(4132-4134)Gag>Cag	p.E1378Q	PPL_ENST00000590782.2_Missense_Mutation_p.E1376Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1378					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCGCAGCTCCACATCGATG	0.687000													36	174					0	0	0.003755	0	0
FAT4	79633	broad.mit.edu	37	4	126242275	126242275	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:126242275G>T	ENST00000394329.3	+	1	4722	c.4709G>T	c.(4708-4710)gGg>gTg	p.G1570V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1570	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCATCAATGGGGACACAGAC	0.458000													71	44					3.56841e-20	5.46371e-20	0.003610	1	0
PDS5A	23244	broad.mit.edu	37	4	39851203	39851203	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:39851203C>G	ENST00000303538.8	-	27	3695	c.3156G>C	c.(3154-3156)aaG>aaC	p.K1052N		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1052					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCTCTGCCATCTTCTTCATAA	0.383000													26	19					0	0	0.003330	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													5	351					0	0	0.000602	0	0
XPO6	23214	broad.mit.edu	37	16	28181134	28181134	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:28181134G>A	ENST00000304658.5	-	5	1002	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	XPO6_ENST00000565698.1_Missense_Mutation_p.R154W	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	168					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCTCCTTCCGAGCCACACTG	0.572000													16	61					0	0	0.004990	0	0
PTBP1	5725	broad.mit.edu	37	19	808706	808706	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:808706C>T	ENST00000356948.6	+	13	1830	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	PTBP1_ENST00000350092.4_Silent_p.S109S|PTBP1_ENST00000394601.4_Silent_p.S462S|PTBP1_ENST00000349038.4_Silent_p.S443S	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	443	RRM 4.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCGGGCTCCAAGAACTTCC	0.672000													12	13					0	0	0.002450	0	0
CUL9	23113	broad.mit.edu	37	6	43163948	43163948	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:43163948G>C	ENST00000252050.4	+	10	2614	c.2530G>C	c.(2530-2532)Gag>Cag	p.E844Q	CUL9_ENST00000354495.3_Missense_Mutation_p.E734Q|CUL9_ENST00000372647.2_Missense_Mutation_p.E844Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	844					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCGGGCTCTGAGAGCCTGCT	0.547000													9	60					0	0	0.006214	0	0
SLC12A7	10723	broad.mit.edu	37	5	1063986	1063986	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:1063986G>C	ENST00000264930.5	-	20	2755	c.2712C>G	c.(2710-2712)atC>atG	p.I904M		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	904					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTCGGCGCTGATGCGCAAGT	0.652000													6	146					0	0	0.003080	0	0
MIR494	574452	broad.mit.edu	37	14	101495970	101495970	+	RNA	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:101495970C>T	ENST00000349529.2	+	0	0					NR_030174.1																						TGCTAATCTTCGATACTCGAA	0.413000													8	32					0	0	0.006214	0	0
CD1D	912	broad.mit.edu	37	1	158151868	158151868	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:158151868G>A	ENST00000368171.3	+	4	874	c.375G>A	c.(373-375)ggG>ggA	p.G125G		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	125					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGCACCCTGGGAACGCCTCAA	0.498000													19	268					0	0	0.006122	0	0
SYT2	127833	broad.mit.edu	37	1	202574758	202574758	+	Missense_Mutation	SNP	T	T	C	rs142067373		TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:202574758T>C	ENST00000367267.1	-	2	335	c.143A>G	c.(142-144)aAg>aGg	p.K48R	SYT2_ENST00000367268.4_Missense_Mutation_p.K48R	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	48					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TAACTTCTCCTTCAGTTTGGC	0.562000													18	47					0	0	0.012319	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406653	38406653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:38406653C>T	ENST00000361085.5	+	7	919	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.Q192*	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CATCACTCATCAGCAAACACA	0.378000													18	67					0	0	0.007413	0	0
OLFML3	56944	broad.mit.edu	37	1	114524297	114524297	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:114524297G>A	ENST00000369551.1	+	4	1355	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Missense_Mutation_p.R376H|OLFML3_ENST00000393300.2_Missense_Mutation_p.R356H			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	376	Olfactomedin-like.				multicellular organismal development	extracellular region		p.R376H(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCAGCCTCCGCTATAACCCC	0.572000													5	35					0	0	0.001984	0	0
DLD	1738	broad.mit.edu	37	7	107542259	107542259	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:107542259C>T	ENST00000205402.5	+	3	476	c.195C>T	c.(193-195)ttC>ttT	p.F65F	DLD_ENST00000437604.2_Silent_p.F65F|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_Intron|DLD_ENST00000440410.1_Silent_p.F65F	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	65					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AGTTAGGCTTCAAGGTAAGGT	0.343000													6	54					0	0	0.003080	0	0
CLK1	1195	broad.mit.edu	37	2	201722595	201722595	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:201722595C>G	ENST00000434813.2	-	7	1138	c.804G>C	c.(802-804)caG>caC	p.Q268H	CLK1_ENST00000321356.4_Missense_Mutation_p.Q226H|CLK1_ENST00000409769.2_Missense_Mutation_p.Q49H	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	226	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTCCAACATCTGGACACAGC	0.353000													26	60					0	0	0.005443	0	0
PDXDC1	23042	broad.mit.edu	37	16	15129997	15129997	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:15129997C>T	ENST00000396410.4	+	23	2329	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000569715.1_Silent_p.L717L|PDXDC1_ENST00000447912.2_Silent_p.L653L|PDXDC1_ENST00000450288.2_Silent_p.L716L|PDXDC1_ENST00000563679.1_Silent_p.L762L|PDXDC1_ENST00000325823.7_Silent_p.L729L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	744					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGATCACCCTCGAGGCCAGCA	0.597000													59	91					0	0	0.003610	0	0
NFXL1	152518	broad.mit.edu	37	4	47896226	47896226	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:47896226C>T	ENST00000507489.1	-	11	1599	c.1423G>A	c.(1423-1425)Gac>Aac	p.D475N	NFXL1_ENST00000381538.3_Missense_Mutation_p.D475N|NFXL1_ENST00000329043.3_Missense_Mutation_p.D475N	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	475						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTCTGACAGTCACGCATCTTA	0.378000													7	32					0	0	0.003080	0	0
LILRA6	79168	broad.mit.edu	37	19	54744212	54744212	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:54744212G>A	ENST00000419410.2	-	6	1197	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.S399L|LILRA6_ENST00000245621.5_Missense_Mutation_p.S399L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAGCTGTATGAGCCGTAGCA	0.592000													5	116					0	0	0.001168	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688159	68688159	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:68688159G>A	ENST00000361320.4	+	2	2063	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	495						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGATGCTGCTGAATGGGACGG	0.458000													21	39					0	0	0.012319	0	0
BIRC7	79444	broad.mit.edu	37	20	61870805	61870805	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:61870805G>A	ENST00000217169.3	+	6	959	c.745G>A	c.(745-747)Gag>Aag	p.E249K	BIRC7_ENST00000342412.6_Missense_Mutation_p.E231K|BIRC7_ENST00000395306.1_Missense_Mutation_p.E144K	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	249					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GCTGCAGGAGGAGAGGACGTG	0.692000													25	45					0	0	0.003954	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145473806	145473806	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:145473806C>G	ENST00000323397.4	+	4	1771	c.478C>G	c.(478-480)Ctc>Gtc	p.L160V		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	160										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGGCAGTATCTCAATTCTCC	0.622000													11	94					0	0	0.001368	0	0
CSPP1	79848	broad.mit.edu	37	8	68044210	68044210	+	Silent	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr8:68044210G>C	ENST00000262210.5	+	14	1738	c.1707G>C	c.(1705-1707)ctG>ctC	p.L569L	CSPP1_ENST00000412460.1_Silent_p.L275L	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	604						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGAATGAACTGAAGATTACAA	0.333000													9	48					0	0	0.008291	0	0
ASIC2	40	broad.mit.edu	37	17	31618767	31618767	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:31618767C>G	ENST00000225823.2	-	1	1239	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	79					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CGGCTCCACTCGCGGTGCACC	0.642000													12	17					0	0	0.002450	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			31	18					0	0	0.007291	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68255549	68255549	+	Translation_Start_Site	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr8:68255549G>A	ENST00000262215.3	-	0	363					NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCGGCGGCTCGTCCGACCCGC	0.612000													13	54					0	0	0.002450	0	0
FABP9	646480	broad.mit.edu	37	8	82371425	82371425	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr8:82371425G>A	ENST00000379071.2	-	2	276	c.221C>T	c.(220-222)aCt>aTt	p.T74I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	74							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GTCTGCTGTAGTTTCATCAAA	0.388000													16	102					0	0	0.004990	0	0
APOB	338	broad.mit.edu	37	2	21238118	21238118	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:21238118C>G	ENST00000233242.1	-	23	3650	c.3523G>C	c.(3523-3525)Gaa>Caa	p.E1175Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1175					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATTCAAATTCAATCTTCTCT	0.398000													7	70					0	0	0.001984	0	0
EVC2	132884	broad.mit.edu	37	4	5690922	5690922	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:5690922G>C	ENST00000310917.2	-	5	1159	c.428C>G	c.(427-429)tCg>tGg	p.S143W	EVC2_ENST00000344938.1_Missense_Mutation_p.S223W|EVC2_ENST00000344408.5_Missense_Mutation_p.S223W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	223						integral to membrane		p.S223L(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GAATCCTTCCGAGGTCCTGTT	0.488000													10	37					0	0	0.010729	0	0
B3GALT4	8705	broad.mit.edu	37	6	33246332	33246332	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:33246332G>A	ENST00000451237.1	+	1	1416	c.1136G>A	c.(1135-1137)tGa>tAa	p.*379*		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	0					protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.*379fs?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CTTCAGAGCTGAGAGTGCCTG	0.612000													21	100					0	0	0.002780	0	0
MMP25	64386	broad.mit.edu	37	16	3100371	3100371	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:3100371C>T	ENST00000336577.4	+	4	722	c.485C>T	c.(484-486)tCc>tTc	p.S162F	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	162					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GAGGTGGATTCCCCCCAGGGC	0.647000													7	42					0	0	0.003080	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290841	20290841	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:20290841C>A	ENST00000377252.4	+	2	1091	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	PLXDC2_ENST00000377242.3_Missense_Mutation_p.Q84K	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AAGCGTCGGCCAAGACTCTCC	0.507000													14	16					1.3612e-06	1.97564e-06	0.003163	1	0
GPR141	353345	broad.mit.edu	37	7	37780414	37780414	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:37780414G>T	ENST00000447769.1	+	4	708	c.419G>T	c.(418-420)tGg>tTg	p.W140L	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.W140L|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	140						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGGCATGTGGACGCTGGTG	0.468000													12	107					5.50884e-06	7.94032e-06	0.001368	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140794341	140794341	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:140794341G>A	ENST00000398610.2	+	1	1599	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.Q533H(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCTACAGATGCAGGTGA	0.547000													73	145					0	0	0.003610	0	0
SF1	7536	broad.mit.edu	37	11	64537844	64537844	+	Silent	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:64537844C>A	ENST00000377390.3	-	4	610	c.273G>T	c.(271-273)ggG>ggT	p.G91G	SF1_ENST00000377387.1_Silent_p.G216G|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000433274.2_Silent_p.G65G|SF1_ENST00000377394.3_Silent_p.G91G|SF1_ENST00000227503.9_Silent_p.G91G|SF1_ENST00000334944.5_Silent_p.G91G	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	91					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TAAGCCGCTTCCCCTCGCTAT	0.537000													15	75					3.27435e-08	4.81929e-08	0.002450	1	0
APC2	10297	broad.mit.edu	37	19	1466155	1466155	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:1466155C>T	ENST00000535453.1	+	14	4568	c.2855C>T	c.(2854-2856)tCg>tTg	p.S952L	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.S952L|APC2_ENST00000238483.4_Missense_Mutation_p.S678L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	952					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACTGGCTTCGCGCCGCGAG	0.731000													11	6					0	0	0.001368	0	0
KLHL9	55958	broad.mit.edu	37	9	21333031	21333031	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:21333031G>C	ENST00000359039.4	-	1	2348	c.1828C>G	c.(1828-1830)Ctt>Gtt	p.L610V	KLHL9_ENST00000537938.1_Missense_Mutation_p.L542V			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	610					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GGTGCTGAAAGAGGTGATTCT	0.438000													10	38					0	0	0.001368	0	0
FGF12	2257	broad.mit.edu	37	3	191888340	191888340	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:191888340A>C	ENST00000445105.2	-	5	579	c.334T>G	c.(334-336)Ttt>Gtt	p.F112V	FGF12_ENST00000450716.1_Missense_Mutation_p.F112V|FGF12_ENST00000454309.2_Missense_Mutation_p.F174V|FGF12_ENST00000264730.3_Missense_Mutation_p.F112V|FGF12_ENST00000430714.1_Missense_Mutation_p.F75V	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AGTCCCAGAAACCAAGCTCGG	0.408000													7	274					0	0	0.004482	0	0
DMXL1	1657	broad.mit.edu	37	5	118507480	118507480	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:118507480C>G	ENST00000311085.8	+	25	6577	c.6497C>G	c.(6496-6498)tCa>tGa	p.S2166*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S2166*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2166										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAGGAAACATCAGAACCACTA	0.378000													19	77					0	0	0.010504	0	0
GALE	2582	broad.mit.edu	37	1	24124220	24124220	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:24124220C>T	ENST00000374497.3	-	6	584	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	165			E -> K (in EDG).		galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		ATCATTTCCTCGATGAAGAAC	0.612000													9	34					0	0	0.008291	0	0
MAPK6	5597	broad.mit.edu	37	15	52356397	52356397	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:52356397A>G	ENST00000261845.5	+	6	2173	c.1366A>G	c.(1366-1368)Aac>Gac	p.N456D	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	456					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ATATTTAGATAACTTAGTTTG	0.338000													5	14					0	0	0.000602	0	0
FMN2	56776	broad.mit.edu	37	1	240374455	240374455	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:240374455G>C	ENST00000319653.9	+	6	4215	c.3985G>C	c.(3985-3987)Gag>Cag	p.E1329Q		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1329	FH2.				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)			TCATGAATTTGAGGAATTATT	0.328000													17	115					0	0	0.004007	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247226	142247226	+	RNA	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:142247226G>C	ENST00000390361.3	-	0	279																											GGGCAGCCCTGAGTCATCTGC	0.562000													4	86					0	0	0.009096	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532448	84532448	+	RNA	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:84532448G>A	ENST00000527857.1	+	0	2470					NR_026851.1																						AAACTCATATGATGCATCTGT	0.448000													6	38					0	0	0.006214	0	0
NDST1	3340	broad.mit.edu	37	5	149915293	149915293	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:149915293C>T	ENST00000261797.6	+	6	1785	c.1283C>T	c.(1282-1284)gCa>gTa	p.A428V	NDST1_ENST00000523767.1_Missense_Mutation_p.A428V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	428	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGGGTATGCAGTGGCGCCC	0.627000													10	42					0	0	0.001368	0	0
TCHH	7062	broad.mit.edu	37	1	152081456	152081456	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:152081456C>T	ENST00000368804.1	-	2	4236	c.4237G>A	c.(4237-4239)Gac>Aac	p.D1413N		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1413	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATTTTCTGTCGCGGTCCTGA	0.607000													23	154					0	0	0.003330	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39381968	39381968	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr22:39381968C>G	ENST00000402182.3	+	3	381	c.326C>G	c.(325-327)tCt>tGt	p.S109C	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.S109C|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.S109C			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	109			S -> A (in dbSNP:rs17000697).		negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GAATTCCTGTCTGAGCACCCC	0.582000													18	112					0	0	0.008871	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337290	136337290	+	Silent	SNP	G	G	A	rs116420154	by1000genomes	TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:136337290G>A	ENST00000371899.4	-	10	1454	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	SLC2A6_ENST00000371897.4_Silent_p.F397F|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	459						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CCTGGAGGCCGAAGGTGCTCT	0.657000													8	42					0	0	0.003080	0	0
TMC4	147798	broad.mit.edu	37	19	54676798	54676798	+	Silent	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:54676798C>G	ENST00000376591.4	-	1	146	c.15G>C	c.(13-15)ccG>ccC	p.P5P	TMC4_ENST00000301187.4_Silent_p.P5P	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	5						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATTCCAAGGTCGGGTTTTCTT	0.647000													23	113					0	0	0.003330	0	0
CUL7	9820	broad.mit.edu	37	6	43014801	43014801	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:43014801C>T	ENST00000535468.1	-	10	2552	c.2466G>A	c.(2464-2466)gtG>gtA	p.V822V	CUL7_ENST00000265348.3_Silent_p.V738V|CUL7_ENST00000478630.1_5'UTR	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	738	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTCCCTGCTCACTGAGGTCA	0.587000													59	88					0	0	0.003610	0	0
ADRM1	11047	broad.mit.edu	37	20	60881753	60881753	+	Silent	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:60881753C>A	ENST00000253003.2	+	5	550	c.504C>A	c.(502-504)ctC>ctA	p.L168L	ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	168	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ACAGCCAGCTCATGCAGCTCA	0.657000													4	12					0.00024832	0.000351857	0.009096	1	0
ATP10B	23120	broad.mit.edu	37	5	160033891	160033891	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:160033891T>A	ENST00000327245.5	-	19	3887	c.3041A>T	c.(3040-3042)aAg>aTg	p.K1014M		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1014					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCCAGAAACTTCTTCTCTAG	0.512000													13	75					0	0	0.001368	0	0
RBM5	10181	broad.mit.edu	37	3	50131152	50131152	+	Splice_Site	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:50131152G>A	ENST00000347869.3	+	4	358		c.e4-1		RBM5_ENST00000469838.1_Splice_Site	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGTAACTCAGAGAGAGCGTG	0.433000													39	62					0	0	0.004878	0	0
CNTRL	11064	broad.mit.edu	37	9	123907177	123907177	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:123907177C>T	ENST00000373855.1	+	21	3368	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	CNTRL_ENST00000373850.1_Silent_p.L484L|CNTRL_ENST00000373847.1_Silent_p.L484L|CNTRL_ENST00000238341.5_Silent_p.L1036L			Q7Z7A1	CNTRL_HUMAN	centriolin	1036					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCAGAGATCTCACCCGAGCAG	0.537000													20	99					0	0	0.007413	0	0
NDST1	3340	broad.mit.edu	37	5	149918799	149918799	+	Silent	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:149918799C>A	ENST00000261797.6	+	7	1949	c.1447C>A	c.(1447-1449)Cgg>Agg	p.R483R	NDST1_ENST00000523767.1_Silent_p.R483R	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	483	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTCTCCCACGGCAGACCTG	0.607000													19	90					1.56452e-12	2.38676e-12	0.007413	1	0
TEAD1	7003	broad.mit.edu	37	11	12951826	12951826	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:12951826G>C	ENST00000361905.4	+	12	1740	c.1075G>C	c.(1075-1077)Gag>Cag	p.E359Q	TEAD1_ENST00000361985.2_Missense_Mutation_p.E374Q|TEAD1_ENST00000526600.1_Missense_Mutation_p.E278Q|TEAD1_ENST00000334310.6_Missense_Mutation_p.E305Q|TEAD1_ENST00000527575.1_Missense_Mutation_p.E316Q|TEAD1_ENST00000527636.1_Missense_Mutation_p.E374Q	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	374	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACACTTACCAGAGAAATATAT	0.398000													15	78					0	0	0.002450	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135767973	135767973	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chrX:135767973G>C	ENST00000250617.6	-	12	2460	c.1255C>G	c.(1255-1257)Caa>Gaa	p.Q419E	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.Q265E|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.Q292E|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.Q265E	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	419	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTCAGATCTTGACATTGCCCC	0.378000													16	43					0	0	0.004007	0	0
OSBPL3	26031	broad.mit.edu	37	7	24882005	24882005	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:24882005G>C	ENST00000313367.2	-	13	1745	c.1294C>G	c.(1294-1296)Cta>Gta	p.L432V	OSBPL3_ENST00000396431.1_Missense_Mutation_p.L401V|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L396V|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L396V|OSBPL3_ENST00000431825.2_Missense_Mutation_p.L365V|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L401V|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L365V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	432					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGATGAACTAGAGCTCGGTTT	0.343000													4	191					0	0	0.009096	0	0
PIBF1	10464	broad.mit.edu	37	13	73539441	73539441	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr13:73539441G>C	ENST00000326291.6	+	15	2201	c.1863G>C	c.(1861-1863)caG>caC	p.Q621H		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	621						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TATTAAACCAGACTCAACAGC	0.358000													4	48					0	0	0.000602	0	0
TRDN	10345	broad.mit.edu	37	6	123892118	123892118	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:123892118G>C	ENST00000334268.4	-	2	499	c.182C>G	c.(181-183)tCa>tGa	p.S61*	TRDN_ENST00000546248.1_Nonsense_Mutation_p.S61*|TRDN_ENST00000542443.1_Nonsense_Mutation_p.S61*|TRDN_ENST00000398178.3_Nonsense_Mutation_p.S61*			Q13061	TRDN_HUMAN	triadin	61					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GGCAACAGCTGACCACGTGAT	0.408000													21	52					0	0	0.012319	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776406	77776406	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr8:77776406C>T	ENST00000521891.2	+	11	10904	c.10456C>T	c.(10456-10458)Cat>Tat	p.H3486Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.H3437Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H3441Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H3460Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3437	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCCAAAGAGCATGTTAGATT	0.433000										HNSCC(33;0.089)			7	38					0	0	0.001984	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100007089	100007089	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:100007089G>A	ENST00000398027.2	-	9	1077	c.830C>T	c.(829-831)tCa>tTa	p.S277L	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.S157L|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.S157L|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S278L	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	277							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGAGAACTGAGGGGTCAAT	0.448000													22	27					0	0	0.003954	0	0
PELI2	57161	broad.mit.edu	37	14	56763420	56763420	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:56763420C>G	ENST00000267460.4	+	6	1085	c.799C>G	c.(799-801)Cag>Gag	p.Q267E		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	267					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|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						TACTCCAACTCAGAAGCACAT	0.577000													6	37					0	0	0.001168	0	0
KCNA10	3744	broad.mit.edu	37	1	111061107	111061107	+	Silent	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:111061107G>C	ENST00000369771.2	-	1	690	c.303C>G	c.(301-303)ctC>ctG	p.L101L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	101						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TAAGGGTTCTGAGCTGGGTCT	0.507000													18	51					0	0	0.006122	0	0
DNAH5	1767	broad.mit.edu	37	5	13786347	13786347	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:13786347T>A	ENST00000265104.4	-	52	8865	c.8761A>T	c.(8761-8763)Atc>Ttc	p.I2921F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2921	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCGCCACGGATGCTCTCATTA	0.463000									Kartagener syndrome				4	133					0	0	0.009096	0	0
COPB2	9276	broad.mit.edu	37	3	139077643	139077643	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:139077643C>G	ENST00000333188.5	-	20	2677	c.2496G>C	c.(2494-2496)gaG>gaC	p.E832D	COPB2_ENST00000507777.1_Missense_Mutation_p.E803D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	832					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGACATTTCTCTCTTCATTTG	0.383000													6	58					0	0	0.001168	0	0
MCCC1	56922	broad.mit.edu	37	3	182788831	182788831	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:182788831G>A	ENST00000492597.1	-	6	1092	c.390C>T	c.(388-390)ttC>ttT	p.F130F	MCCC1_ENST00000265594.4_Silent_p.F239F|MCCC1_ENST00000539926.1_Silent_p.F104F			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	239	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATCATCATTGAAAGACTTCT	0.353000													12	53					0	0	0.002450	0	0
ZNF70	7621	broad.mit.edu	37	22	24087015	24087015	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr22:24087015G>C	ENST00000341976.3	-	2	773	c.313C>G	c.(313-315)Cag>Gag	p.Q105E		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	105						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TGGATTATCTGACACATGCTG	0.532000													53	95					0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144916618	144916618	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:144916618G>A	ENST00000529945.1	-	9	2665	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	PDE4DIP_ENST00000313431.9_Silent_p.I742I|PDE4DIP_ENST00000530740.1_Silent_p.I716I|PDE4DIP_ENST00000369351.3_Silent_p.I579I|PDE4DIP_ENST00000369354.3_Silent_p.I579I|PDE4DIP_ENST00000369359.4_Silent_p.I716I|PDE4DIP_ENST00000313382.9_Silent_p.I645I|PDE4DIP_ENST00000369356.4_Silent_p.I579I|PDE4DIP_ENST00000369349.3_Silent_p.I579I|PDE4DIP_ENST00000479408.2_Silent_p.I366I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	579		Breakpoint for insertion to form PDE4DIP- PDGFRB fusion protein.			cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGCTGAATGATACTCTCTT	0.408000			T	PDGFRB	MPD								10	1081					0	0	0.006214	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1798271	1798271	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:1798271G>A	ENST00000250894.4	+	7	1175	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.D340N	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	340					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGAGTGGTCTGATGTTCAAGA	0.637000													13	46					0	0	0.004007	0	0
ATP11C	286410	broad.mit.edu	37	X	138864738	138864738	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chrX:138864738C>T	ENST00000370557.1	-	18	2947	c.1920G>A	c.(1918-1920)atG>atA	p.M640I	ATP11C_ENST00000370543.1_Missense_Mutation_p.M643I|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.M643I|ATP11C_ENST00000359686.2_Missense_Mutation_p.M643I|ATP11C_ENST00000361648.2_Missense_Mutation_p.M643I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	643					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAATTAAATTCATGTTTGTCT	0.343000													29	17					0	0	0.006320	0	0
USP29	57663	broad.mit.edu	37	19	57642258	57642258	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:57642258G>C	ENST00000254181.4	+	4	2669	c.2215G>C	c.(2215-2217)Gag>Cag	p.E739Q	USP29_ENST00000598197.1_Missense_Mutation_p.E739Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	739					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGTGTATTGAGGAGAGCAT	0.468000													20	42					0	0	0.008871	0	0
DDX4	54514	broad.mit.edu	37	5	55075822	55075822	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:55075822C>G	ENST00000505374.1	+	8	517	c.425C>G	c.(424-426)tCa>tGa	p.S142*	DDX4_ENST00000353507.5_Intron|DDX4_ENST00000354991.5_Intron|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S122*|DDX4_ENST00000511853.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	142	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCAGAAGCTTCAGGGCCATAC	0.413000													7	14					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9067696	9067696	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:9067696C>G	ENST00000397910.4	-	3	19953	c.19750G>C	c.(19750-19752)Gag>Cag	p.E6584Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6586	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						TACATTTTCTCTGTATCTTTA	0.453000													19	60					0	0	0.008871	0	0
BTN3A3	10384	broad.mit.edu	37	6	26448522	26448522	+	Silent	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:26448522G>C	ENST00000244519.2	+	6	1005	c.762G>C	c.(760-762)ggG>ggC	p.G254G	BTN3A3_ENST00000339789.4_Silent_p.G212G|BTN3A3_ENST00000361232.3_Silent_p.G212G	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	254						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CCCTGGCAGGGACCCTGCCTA	0.592000													11	89					0	0	0.010729	0	0
CUBN	8029	broad.mit.edu	37	10	17147549	17147549	+	Silent	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:17147549G>C	ENST00000377833.4	-	11	1202	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	379	EGF-like 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATAACCCGGGAGACACGTGC	0.443000													30	49					0	0	0.007291	0	0
SRSF2	6427	broad.mit.edu	37	17	74732291	74732291	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:74732291C>T	ENST00000392485.2	-	2	790	c.618G>A	c.(616-618)tcG>tcA	p.S206S	RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Silent_p.S194S|SRSF2_ENST00000359995.5_Silent_p.S206S|MFSD11_ENST00000586622.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	206	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.S186S(1)|p.S206S(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGGGACTCTTCGATCGCGACC	0.547000			Mis		"""MDS, CLL"""								10	102					0	0	0.006214	0	0
RGPD3	653489	broad.mit.edu	37	2	107029618	107029618	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:107029618C>G	ENST00000409886.3	-	22	5275	c.5188G>C	c.(5188-5190)Gag>Cag	p.E1730Q	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1730Q	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1730	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGAAGTCTCTCTCTTTCACTA	0.448000													23	119					0	0	0.005443	0	0
CSTF1	1477	broad.mit.edu	37	20	54974087	54974087	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:54974087A>T	ENST00000217109.4	+	5	1062	c.710A>T	c.(709-711)cAg>cTg	p.Q237L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	237					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GTCGGAACTCAGCATCCTACT	0.398000													51	108					0	0	0.003610	0	0
KIF5C	3800	broad.mit.edu	37	2	149803434	149803434	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:149803434G>A	ENST00000435030.1	+	8	979	c.611G>A	c.(610-612)aGa>aAa	p.R204K	KIF5C_ENST00000414838.2_Missense_Mutation_p.R109K			O60282	KIF5C_HUMAN	kinesin family member 5C	204	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.R204I(1)|p.R107I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CACAGCTCTAGAAGTCACAGT	0.348000													15	12					0	0	0.003163	0	0
KCNH5	27133	broad.mit.edu	37	14	63447854	63447854	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:63447854G>C	ENST00000322893.7	-	6	946	c.678C>G	c.(676-678)ttC>ttG	p.F226L	KCNH5_ENST00000420622.2_Missense_Mutation_p.F226L|KCNH5_ENST00000394964.2_Missense_Mutation_p.F168L|KCNH5_ENST00000394968.1_Missense_Mutation_p.F168L	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	226					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGCGGTGTAGAAGGTAAGAA	0.388000													7	42					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179588222	179588222	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:179588222G>A	ENST00000589042.1	-	74	21829	c.21605C>T	c.(21604-21606)tCt>tTt	p.S7202F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5958F|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6885F|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6885	Ig-like 54.						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)			CCCACTCTGAGATATGTCAAT	0.438000													4	23					0	0	0.000602	0	0
MRPL38	64978	broad.mit.edu	37	17	73897805	73897805	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:73897805C>T	ENST00000309352.3	-	4	1116	c.579G>A	c.(577-579)gtG>gtA	p.V193V	MRPL38_ENST00000409963.3_Silent_p.V9V|MRPL38_ENST00000585475.1_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	193						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGTTGGAGTCACCTCATTGC	0.582000													7	31					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179639084	179639084	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:179639084C>A	ENST00000589042.1	-	30	7131	c.6907G>T	c.(6907-6909)Gat>Tat	p.D2303Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D2303Y|TTN_ENST00000359218.5_Missense_Mutation_p.D2257Y|TTN_ENST00000460472.2_Missense_Mutation_p.D2257Y|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D2303Y|TTN_ENST00000591111.1_Missense_Mutation_p.D2303Y|TTN_ENST00000342175.6_Missense_Mutation_p.D2257Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						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)			AGCTCCACATCATTATGATAC	0.398000													20	78					4.35082e-09	6.44908e-09	0.010504	1	0
SKIL	6498	broad.mit.edu	37	3	170078952	170078952	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:170078952C>A	ENST00000458537.3	+	1	1542	c.833C>A	c.(832-834)cCc>cAc	p.P278H	SKIL_ENST00000413427.2_Missense_Mutation_p.P278H|SKIL_ENST00000426052.2_Missense_Mutation_p.P258H|SKIL_ENST00000259119.4_Missense_Mutation_p.P278H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	278					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTATTTGCACCCCAGTTTTAT	0.463000													16	58					6.31663e-08	9.26439e-08	0.003163	1	0
RGL4	266747	broad.mit.edu	37	22	24038808	24038808	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr22:24038808G>A	ENST00000290691.5	+	7	2264	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	RGL4_ENST00000401461.1_Missense_Mutation_p.S229N|KB-1572G7.2_ENST00000421064.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	365	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CAGGCGGGGAGCTTTAAGGTG	0.657000													8	29					0	0	0.003080	0	0
FNTB	2342	broad.mit.edu	37	14	65528024	65528024	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:65528024C>T	ENST00000246166.2	+	12	1542	c.1308C>T	c.(1306-1308)acC>acT	p.T436T	FNTB_ENST00000447296.2_Silent_p.T470T|FNTB_ENST00000542227.1_Silent_p.T390T|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Silent_p.T471T	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGCCTGCAACCGACTAGAGGA	0.507000													8	32					0	0	0.003080	0	0
CEP85	64793	broad.mit.edu	37	1	26595074	26595074	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:26595074G>A	ENST00000252992.4	+	8	1573	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	CEP85_ENST00000451429.2_Missense_Mutation_p.R430H	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	481						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ACCTTGGAGCGCTACCTGGCT	0.517000													13	44					0	0	0.001855	0	0
NRCAM	4897	broad.mit.edu	37	7	107880462	107880462	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:107880462C>G	ENST00000379028.3	-	4	517	c.47G>C	c.(46-48)aGa>aCa	p.R16T	NRCAM_ENST00000351718.4_Missense_Mutation_p.R16T|NRCAM_ENST00000413765.2_Missense_Mutation_p.R16T|NRCAM_ENST00000425651.2_Missense_Mutation_p.R16T|NRCAM_ENST00000379024.4_Missense_Mutation_p.R16T|NRCAM_ENST00000379022.4_Missense_Mutation_p.R16T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	16					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.R16K(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGGGGCACTCTGCCCGCAGA	0.433000													12	63					0	0	0.001855	0	0
HERC5	51191	broad.mit.edu	37	4	89415392	89415392	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:89415392A>G	ENST00000264350.3	+	18	2507	c.2354A>G	c.(2353-2355)aAc>aGc	p.N785S	HERC5_ENST00000508159.1_Missense_Mutation_p.N423S	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	785	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AATGTTGCCAACCTTCCTTTC	0.373000													5	50					0	0	0.000602	0	0
NPY2R	4887	broad.mit.edu	37	4	156136118	156136118	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:156136118G>C	ENST00000329476.3	+	2	1516	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	NPY2R_ENST00000506608.1_Missense_Mutation_p.E343Q	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	343					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTCCGCTGTGAGCAGCGGTT	0.512000													54	38					0	0	0.003610	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269663	185269663	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:185269663C>T	ENST00000367498.3	-	11	1770	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.R165Q	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	383					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		p.R383Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTCGACTGTTCGAAGACATTC	0.398000													16	92					0	0	0.006122	0	0
TMEM62	80021	broad.mit.edu	37	15	43441253	43441253	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:43441253A>G	ENST00000260403.2	+	7	1049	c.770A>G	c.(769-771)cAt>cGt	p.H257R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	257						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TTGTGTGGACATCTCCATACA	0.413000													27	75					0	0	0.006320	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504349	151504349	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:151504349G>C	ENST00000317605.4	+	1	1273	c.168G>C	c.(166-168)ttG>ttC	p.L56F	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	56					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCAGCTCCTTGAGCGAGATCG	0.582000													12	24					0	0	0.010729	0	0
KLHL5	51088	broad.mit.edu	37	4	39083642	39083642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:39083642C>T	ENST00000261425.3	+	5	915	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	KLHL5_ENST00000261426.5_Nonsense_Mutation_p.Q240*|KLHL5_ENST00000381930.3_Nonsense_Mutation_p.Q301*|KLHL5_ENST00000504108.1_Nonsense_Mutation_p.Q301*|KLHL5_ENST00000508137.2_Nonsense_Mutation_p.Q114*|KLHL5_ENST00000359687.2_Nonsense_Mutation_p.Q301*	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	301	BTB.					cytoplasm|cytoskeleton	actin binding	p.Q301*(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGCCTTCTTCAGCTTTCACA	0.383000													13	67					0	0	0.001855	0	0
SBNO1	55206	broad.mit.edu	37	12	123800103	123800103	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:123800103C>G	ENST00000420886.2	-	21	3039	c.3040G>C	c.(3040-3042)Gag>Cag	p.E1014Q	SBNO1_ENST00000267176.4_Missense_Mutation_p.E1013Q|SBNO1_ENST00000602398.1_Missense_Mutation_p.E1014Q|SBNO1_ENST00000602750.1_Missense_Mutation_p.E1013Q	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1014							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACCAAACTCTCAAGTCTTTTA	0.373000													11	65					0	0	0.008291	0	0
CCDC17	149483	broad.mit.edu	37	1	46086493	46086493	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:46086493C>G	ENST00000421127.2	-	12	1728	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	CCDC17_ENST00000343901.2_Missense_Mutation_p.E506Q|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000528266.1_Missense_Mutation_p.E538Q	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	538										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					AGAAAGAGCTCAGCCTGACCT	0.532000													4	12					0	0	0.009096	0	0
AKAP13	11214	broad.mit.edu	37	15	86228025	86228025	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:86228025C>T	ENST00000394518.2	+	16	5305	c.5210C>T	c.(5209-5211)tCt>tTt	p.S1737F	AKAP13_ENST00000361243.2_Missense_Mutation_p.S1741F|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_5'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1737					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AAGAAAGATTCTGAATGGAAG	0.363000													13	68					0	0	0.001368	0	0
ATP1B4	23439	broad.mit.edu	37	X	119509292	119509292	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chrX:119509292G>T	ENST00000218008.3	+	5	685	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	ATP1B4_ENST00000539306.1_Missense_Mutation_p.D167Y|ATP1B4_ENST00000361319.3_Missense_Mutation_p.D206Y	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	210					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTTCATCCAAGATGGCAATGA	0.463000													6	82					5.9392e-07	8.65012e-07	0.001168	1	0
SP100	6672	broad.mit.edu	37	2	231380326	231380326	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:231380326G>A	ENST00000264052.5	+	25	2966	c.2611G>A	c.(2611-2613)Gag>Aag	p.E871K	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	871					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		tgaacaagaggaggaaaatga	0.358000													4	13					0	0	0.009096	0	0
P2RX2	22953	broad.mit.edu	37	12	133196313	133196313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:133196313C>T	ENST00000389110.3	+	3	395	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000343948.4_Nonsense_Mutation_p.Q120*|P2RX2_ENST00000348800.5_Nonsense_Mutation_p.Q120*|P2RX2_ENST00000351222.4_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	120					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		CACCCACTCCCAGACCCAGGG	0.731000													9	25					0	0	0.006214	0	0
OR12D3	81797	broad.mit.edu	37	6	29342313	29342313	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:29342313T>C	ENST00000396806.3	-	1	755	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CACAGGTCCATAGAAAAGACA	0.478000													10	39					0	0	0.006214	0	0
VPRBP	9730	broad.mit.edu	37	3	51440609	51440609	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:51440609G>A	ENST00000335891.5	-	16	3095	c.3086C>T	c.(3085-3087)gCa>gTa	p.A1029V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1478					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTCCTCATCTGCATCAGAGTC	0.542000													7	39					0	0	0.004482	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30314549	30314549	+	Missense_Mutation	SNP	G	G	A	rs149764842		TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:30314549G>A	ENST00000513556.1	+	10	1210	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	RPP21_ENST00000436442.2_Silent_p.*145*|RPP21_ENST00000428040.2_Missense_Mutation_p.E166K|RPP21_ENST00000433076.2_Missense_Mutation_p.E151K|RPP21_ENST00000442966.2_Missense_Mutation_p.E143K	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN		404						intracellular	zinc ion binding										CCGCCTTCCTGAGGAGAAAAT	0.428000													24	121					0	0	0.002780	0	0
NALCN	259232	broad.mit.edu	37	13	101735522	101735522	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr13:101735522T>A	ENST00000251127.6	-	32	3692	c.3611A>T	c.(3610-3612)tAt>tTt	p.Y1204F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1204						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTTATGTCATACATTTTAGC	0.398000													9	60					0	0	0.004482	0	0
PTN	5764	broad.mit.edu	37	7	136936138	136936138	+	Splice_Site	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:136936138G>T	ENST00000348225.2	-	4	717	c.290C>A	c.(289-291)gCg>gAg	p.A97E	PTN_ENST00000393083.2_Splice_Site_p.A97E	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	97					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.A97V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TTTGCACTCCGCTAAAGGCAG	0.448000													12	108					4.36969e-10	6.5467e-10	0.001855	1	0
PFDN2	5202	broad.mit.edu	37	1	161070565	161070565	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:161070565G>A	ENST00000368010.3	-	4	457	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	125					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCATGAGACGAATGTTGTGC	0.498000													8	149					0	0	0.004482	0	0
DTL	51514	broad.mit.edu	37	1	212245552	212245552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:212245552G>A	ENST00000366991.4	+	11	1346	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Nonsense_Mutation_p.W302*	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	344					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCTACATATGGAAGGTAAGTT	0.388000													20	62					0	0	0.008871	0	0
ATP7A	538	broad.mit.edu	37	X	77254178	77254178	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chrX:77254178G>A	ENST00000341514.6	+	5	1695	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E514K	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	514	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGGCGGGAAGAAGGTGAGAC	0.398000													4	69					0	0	0.009096	0	0
TUBB6	84617	broad.mit.edu	37	18	12325866	12325866	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr18:12325866G>A	ENST00000317702.5	+	4	1312	c.1078G>A	c.(1078-1080)Ggc>Agc	p.G360S	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	360					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CCCGCCCCGCGGCCTGAAGAT	0.607000													41	237					0	0	0.005524	0	0
DEAF1	10522	broad.mit.edu	37	11	674639	674639	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:674639G>A	ENST00000382409.3	-	10	1884	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.A378V	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	467					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CAGCTGCTGCGCTGTGTTGAG	0.592000													16	80					0	0	0.004990	0	0
CATSPERD	257062	broad.mit.edu	37	19	5763290	5763290	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:5763290G>A	ENST00000381624.3	+	16	1553	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	CATSPERD_ENST00000381614.2_Missense_Mutation_p.D156N|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	498						integral to membrane											TTCATGTGTGGATATCAAGCC	0.438000													9	45					0	0	0.006214	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138196164	138196164	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:138196164G>A	ENST00000237289.4	+	3	544	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	160	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCTTTGCTATGATACTCGGGT	0.498000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								18	67					0	0	0.006122	0	0
SLC25A30	253512	broad.mit.edu	37	13	45983092	45983092	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr13:45983092C>T	ENST00000539591.1	-	2	192	c.29G>A	c.(28-30)aGa>aAa	p.R10K				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	61					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		CCCTTCTTCTCTGCCTATCCT	0.453000													15	72					0	0	0.004007	0	0
TMEM97	27346	broad.mit.edu	37	17	26653744	26653744	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:26653744C>T	ENST00000226230.6	+	3	601	c.456C>T	c.(454-456)ctC>ctT	p.L152L	TMEM97_ENST00000336687.6_Silent_p.L45L|TMEM97_ENST00000583381.1_Silent_p.L45L	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	152					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCTACTTACTCATCCCATTCA	0.423000													14	31					0	0	0.002450	0	0
GTF2H3	2967	broad.mit.edu	37	12	124123888	124123888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:124123888C>T	ENST00000543341.2	+	2	122	c.91C>T	c.(91-93)Cag>Tag	p.Q31*	GTF2H3_ENST00000228955.7_Intron	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	31					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		AAAGGAATCTCAGGTAAGACT	0.323000								Nucleotide excision repair (NER)					4	11					0	0	0.009096	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261824	21261824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:21261824G>T	ENST00000311620.5	+	2	1010	c.937G>T	c.(937-939)Gag>Tag	p.E313*		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	313										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAGGCTGATGAGGGTGCAGC	0.498000													4	26					1.024e-07	1.49662e-07	0.000602	1	0
AGL	178	broad.mit.edu	37	1	100340960	100340960	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:100340960G>A	ENST00000294724.4	+	10	1710	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	AGL_ENST00000370165.3_Missense_Mutation_p.G411D|AGL_ENST00000370163.3_Missense_Mutation_p.G411D|AGL_ENST00000370161.2_Missense_Mutation_p.G395D|AGL_ENST00000361915.3_Missense_Mutation_p.G411D|AGL_ENST00000361522.4_Missense_Mutation_p.G394D|AGL_ENST00000361302.3_Missense_Mutation_p.G395D|AGL_ENST00000477753.1_3'UTR	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	411					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CGACTGGCTGGCCATGGTCCA	0.353000													4	42					0	0	0.000602	0	0
DDX41	51428	broad.mit.edu	37	5	176942243	176942243	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:176942243C>T	ENST00000507955.1	-	7	1111	c.588G>A	c.(586-588)ctG>ctA	p.L196L	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	196					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CTTTCTTCTTCAGGCCTCTCA	0.532000													6	87					0	0	0.003080	0	0
PIAS3	10401	broad.mit.edu	37	1	145580263	145580263	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:145580263C>T	ENST00000393045.2	+	6	835	c.745C>T	c.(745-747)Cga>Tga	p.R249*	PIAS3_ENST00000369299.3_Nonsense_Mutation_p.R240*|PIAS3_ENST00000369298.1_Nonsense_Mutation_p.R214*	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	249	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCCCTGGCTCGACTCTCAGC	0.582000													73	136					0	0	0.003610	0	0
GJB4	127534	broad.mit.edu	37	1	35227215	35227215	+	Silent	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:35227215G>C	ENST00000339480.1	+	2	730	c.360G>C	c.(358-360)ctG>ctC	p.L120L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	120					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACGACAACCTGAGCAAGAAGC	0.612000													19	38					0	0	0.008871	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103052607	103052607	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:103052607C>T	ENST00000375735.2	+	40	6613	c.6469C>T	c.(6469-6471)Cta>Tta	p.L2157L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L2157L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2157	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACAATGGGTTCTAAAGCAGGT	0.318000													3	11					0	0	0.004672	0	0
EIF4E2	9470	broad.mit.edu	37	2	233421129	233421129	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:233421129G>A	ENST00000409514.1	+	2	66	c.24G>A	c.(22-24)ttG>ttA	p.L8L	EIF4E2_ENST00000409322.1_Silent_p.L8L|EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000258416.3_Silent_p.L8L|EIF4E2_ENST00000409167.3_Silent_p.L8L|EIF4E2_ENST00000409394.1_Silent_p.L8L|EIF4E2_ENST00000409098.1_Silent_p.L8L|EIF4E2_ENST00000409495.1_Silent_p.L8L	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	8				MNNKFDALKDDDSGDHDQNEENSTQKD -> MMTVGTMIRM KKTAHRKI (in Ref. 3; AAC39871).	regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CATTCAGTTTGAAAGATGATG	0.413000													4	10					0	0	0.009096	0	0
MYH3	4621	broad.mit.edu	37	17	10535959	10535959	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:10535959G>A	ENST00000583535.1	-	34	4877	c.4790C>T	c.(4789-4791)aCc>aTc	p.T1597I	MYH3_ENST00000226209.7_Missense_Mutation_p.T1597I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1597					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCTGCATGGTTTCCACTGT	0.507000													170	128					0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822517	43822517	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:43822517C>G	ENST00000389420.3	-	25	3574	c.3575G>C	c.(3574-3576)tGt>tCt	p.C1192S	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.C310S|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.C1192S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1192	TSP type-1 7.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAGTGGGCACAATATGATTC	0.448000													13	13					0	0	0.001368	0	0
PROKR2	128674	broad.mit.edu	37	20	5294562	5294562	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:5294562C>T	ENST00000546004.1	-	2	700	c.454G>A	c.(454-456)Gac>Aac	p.D152N	PROKR2_ENST00000217270.3_Missense_Mutation_p.D152N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	152						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CCTCACCTGTCAATGGCAATG	0.592000										HNSCC(71;0.22)			9	19					0	0	0.004482	0	0
ENTPD2	954	broad.mit.edu	37	9	139945802	139945802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:139945802G>T	ENST00000355097.2	-	4	454	c.407C>A	c.(406-408)tCg>tAg	p.S136*	ENTPD2_ENST00000312665.5_Nonsense_Mutation_p.S136*	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	136						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACACTGGTCGAGGCCTCTGG	0.612000													21	38					1.96292e-10	2.95144e-10	0.010504	1	0
MMP25	64386	broad.mit.edu	37	16	3100093	3100093	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:3100093C>T	ENST00000336577.4	+	3	553	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	106	Poly-Arg.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CAGGCGGCGTCGCCGGTACGC	0.701000													26	119					0	0	0.004656	0	0
IRX2	153572	broad.mit.edu	37	5	2749162	2749162	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:2749162G>A	ENST00000382611.6	-	3	908	c.660C>T	c.(658-660)atC>atT	p.I220I	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.I220I	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTGCAGGCTGATCCCTGTGG	0.736000													9	48					0	0	0.004482	0	0
CDH6	1004	broad.mit.edu	37	5	31317488	31317488	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:31317488C>G	ENST00000265071.2	+	10	1784	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	CDH6_ENST00000514738.1_Missense_Mutation_p.Q452E	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	507	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.Q507E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTAGTTGATTCAGACCCTGCA	0.383000													7	176					0	0	0.006214	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478101	42478101	+	Silent	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:42478101C>A	ENST00000434000.1	-	9	1392	c.1110G>T	c.(1108-1110)gcG>gcT	p.A370A	GPATCH8_ENST00000591680.1_Silent_p.A448A			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	448						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGCTTGCTGCCGCCTTGATGC	0.502000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	191					3.59834e-05	5.116e-05	0.001168	1	0
RASGRP3	25780	broad.mit.edu	37	2	33745693	33745693	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:33745693G>A	ENST00000403687.3	+	6	1050	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RASGRP3_ENST00000402538.3_Missense_Mutation_p.E104K|RASGRP3_ENST00000407811.1_Missense_Mutation_p.E104K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	104	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GGAATTTCGGGAAGTAGCTAG	0.428000													31	143					0	0	0.008361	0	0
OR6B1	135946	broad.mit.edu	37	7	143701739	143701739	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:143701739C>G	ENST00000408922.2	+	1	718	c.650C>G	c.(649-651)tCc>tGc	p.S217C		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACTGTCCTGTCCTACGGATGC	0.463000													32	108					0	0	0.012213	0	0
FREM2	341640	broad.mit.edu	37	13	39451377	39451377	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr13:39451377G>A	ENST00000280481.7	+	21	8884	c.8668G>A	c.(8668-8670)Gaa>Aaa	p.E2890K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2890					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTTTTGCAGAAGGTATCAC	0.423000													48	253					0	0	0.003610	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531514	190531514	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:190531514C>T	ENST00000260952.4	+	4	1069	c.656C>T	c.(655-657)tCa>tTa	p.S219L	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	219					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGTCAAATTTCAGCAGACTTA	0.348000													9	57					0	0	0.004482	0	0
TRIM41	90933	broad.mit.edu	37	5	180661766	180661766	+	Silent	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:180661766C>G	ENST00000315073.5	+	6	2594	c.1884C>G	c.(1882-1884)ctC>ctG	p.L628L	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	628	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATCAAGCTCTGCCCTTGAT	0.622000													9	129					0	0	0.004482	0	0
TRIP6	7205	broad.mit.edu	37	7	100469339	100469339	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:100469339C>A	ENST00000200457.4	+	7	1534	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	392	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAGGACTTTCACAGGTCAGG	0.577000													9	36					1.12685e-05	1.61864e-05	0.004482	1	0
KIRREL3	84623	broad.mit.edu	37	11	126333074	126333074	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:126333074C>T	ENST00000525144.2	-	6	969	c.720G>A	c.(718-720)acG>acA	p.T240T	KIRREL3_ENST00000525704.2_Silent_p.T240T|KIRREL3_ENST00000529097.2_Silent_p.T240T	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	240	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGGTGACCGACGTCTCCTTTC	0.617000													6	23					0	0	0.001984	0	0
ZNF564	163050	broad.mit.edu	37	19	12638575	12638575	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:12638575G>A	ENST00000339282.7	-	4	543	c.347C>T	c.(346-348)tCa>tTa	p.S116L	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ACTAAGGGATGAATGATGCAT	0.393000													15	68					0	0	0.003163	0	0
UFL1	23376	broad.mit.edu	37	6	96973212	96973212	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:96973212G>T	ENST00000369278.4	+	4	358	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	98	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AAATAGAATTGGTGACATTAT	0.274000													4	120					3.59834e-05	5.116e-05	0.001168	1	0
DENND4B	9909	broad.mit.edu	37	1	153902856	153902856	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:153902856C>T	ENST00000361217.4	-	28	4826	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1470										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGCCTCAGCTCCTCCTTGCCC	0.542000													17	69					0	0	0.004990	0	0
AGTR1	185	broad.mit.edu	37	3	148459512	148459512	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:148459512G>A	ENST00000542281.1	+	4	1136	c.690G>A	c.(688-690)aaG>aaA	p.K230K	AGTR1_ENST00000404754.2_Silent_p.K230K|AGTR1_ENST00000475347.1_Silent_p.K230K|AGTR1_ENST00000474935.1_Silent_p.K230K|AGTR1_ENST00000497524.1_Silent_p.K230K|AGTR1_ENST00000349243.3_Silent_p.K230K|AGTR1_ENST00000418473.2_Silent_p.K230K|AGTR1_ENST00000461609.1_Silent_p.K230K|AGTR1_ENST00000402260.1_Silent_p.K230K	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	230					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAATTCAGAAGAACAAACCAA	0.328000													8	55					0	0	0.004482	0	0
GRM8	2918	broad.mit.edu	37	7	126746602	126746602	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:126746602C>T	ENST00000339582.2	-	3	1483	c.675G>A	c.(673-675)ggG>ggA	p.G225G	GRM8_ENST00000405249.1_Silent_p.G225G|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.G225G|GRM8_ENST00000358373.3_Silent_p.G225G			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	225					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACCATAGTTCCCCTCAGAAG	0.502000										HNSCC(24;0.065)			8	37					0	0	0.004482	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109452	151109452	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:151109452G>A	ENST00000341697.3	-	11	2546	c.855C>T	c.(853-855)ctC>ctT	p.L285L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	285	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGCAGTTGAGCCGAAGCT	0.572000													34	231					0	0	0.012213	0	0
DRD2	1813	broad.mit.edu	37	11	113283435	113283435	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:113283435C>T	ENST00000362072.3	-	7	1325	c.981G>A	c.(979-981)aaG>aaA	p.K327K	DRD2_ENST00000542968.1_Silent_p.K327K|DRD2_ENST00000538967.1_Silent_p.K329K|DRD2_ENST00000355319.2_Silent_p.K329K|DRD2_ENST00000544518.1_Silent_p.K326K|DRD2_ENST00000346454.3_Silent_p.K298K	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	327	Interaction with PPP1R9B (By similarity).		K -> E (in dbSNP:rs71653614).		activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.K327N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CATGCCCATTCTTCTCTGGTT	0.597000													9	50					0	0	0.004482	0	0
PTEN	5728	broad.mit.edu	37	10	89692851	89692851	+	Missense_Mutation	SNP	T	T	C	rs121909230		TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:89692851T>C	ENST00000371953.3	+	5	1692	c.335T>C	c.(334-336)cTa>cCa	p.L112P		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	112	Phosphatase tensin-type.		L -> P (in CD and LDD; loss of phosphatase activity towards Ins(1,3,4,5)P4).|L -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L112P(2)|p.Y27fs*1(2)|p.L112Q(1)|p.L112R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCAATGGCTAAGTGAAGAT	0.388000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			55	37					0	0	0.003610	0	0
MYH7B	57644	broad.mit.edu	37	20	33587435	33587435	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:33587435G>A	ENST00000262873.7	+	35	4820	c.4728G>A	c.(4726-4728)gaG>gaA	p.E1576E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1534						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGAACTGGAGAAAACCAAGA	0.612000													4	21					0	0	0.009096	0	0
COL4A1	1282	broad.mit.edu	37	13	110817268	110817268	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr13:110817268G>C	ENST00000375820.4	-	46	4212	c.4091C>G	c.(4090-4092)cCt>cGt	p.P1364R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1364	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGGCCCTCAGGACCAGGGAG	0.637000													10	5					0	0	0.006214	0	0
ATP5C1	509	broad.mit.edu	37	10	7841097	7841097	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:7841097C>T	ENST00000356708.7	+	4	447	c.368C>T	c.(367-369)gCa>gTa	p.A123V	ATP5C1_ENST00000335698.4_Missense_Mutation_p.A123V|ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_Missense_Mutation_p.A76V	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	123					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.L121_E127>Q(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ACACTAACAGCAGCTGGGAAA	0.368000													14	101					0	0	0.003163	0	0
CDC25B	994	broad.mit.edu	37	20	3781979	3781979	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:3781979G>C	ENST00000245960.5	+	8	1481	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	CDC25B_ENST00000439880.2_Missense_Mutation_p.E248Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.E198Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.E198Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.E221Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	262					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GACCCCTGCAGAGGGGGATAC	0.552000													25	176					0	0	0.006320	0	0
FBLN7	129804	broad.mit.edu	37	2	112942910	112942910	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:112942910C>T	ENST00000331203.2	+	7	1212	c.941C>T	c.(940-942)tCt>tTt	p.S314F	FBLN7_ENST00000409450.3_Missense_Mutation_p.S268F|FBLN7_ENST00000409903.1_Missense_Mutation_p.S314F|FBLN7_ENST00000409667.3_Missense_Mutation_p.S180F	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	314	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GTGAAGACGTCTCCATTGTGA	0.592000													20	27					0	0	0.010504	0	0
BOC	91653	broad.mit.edu	37	3	112992091	112992091	+	Silent	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:112992091C>G	ENST00000495514.1	+	8	1841	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	BOC_ENST00000355385.3_Silent_p.L379L|BOC_ENST00000273395.4_Silent_p.L379L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	379	Ig-like C2-type 4.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGCGCGTGCTCAGCATGGGGC	0.687000													5	20					0	0	0.000602	0	0
COPB2	9276	broad.mit.edu	37	3	139077618	139077618	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:139077618C>G	ENST00000333188.5	-	20	2702	c.2521G>C	c.(2521-2523)Gac>Cac	p.D841H	COPB2_ENST00000507777.1_Missense_Mutation_p.D812H	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	841					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GGCTGAAAGTCTTTTCCCTCT	0.353000													5	66					0	0	0.001168	0	0
AANAT	15	broad.mit.edu	37	17	74465350	74465350	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:74465350G>A	ENST00000250615.3	+	6	1401	c.394G>A	c.(394-396)Gag>Aag	p.E132K	AANAT_ENST00000392492.3_Missense_Mutation_p.E87K	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	87	Acetyl-CoA binding (By similarity).|N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CTGGTTCGAGGAGGGCTGCCT	0.627000													42	127					0	0	0.006999	0	0
RGS6	9628	broad.mit.edu	37	14	73002911	73002911	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:73002911G>A	ENST00000553530.1	+	16	1503	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L	RGS6_ENST00000343854.6_Silent_p.L395L|RGS6_ENST00000556437.1_Silent_p.L432L|RGS6_ENST00000434263.2_Silent_p.L363L|RGS6_ENST00000406236.4_Silent_p.L432L|RGS6_ENST00000355512.6_Silent_p.L432L|RGS6_ENST00000554782.1_Silent_p.L293L|RGS6_ENST00000555571.1_Silent_p.L432L|RGS6_ENST00000553525.1_Silent_p.L432L|RGS6_ENST00000404301.2_Silent_p.L432L|RGS6_ENST00000402788.2_Silent_p.L432L|RGS6_ENST00000407322.4_Silent_p.L432L	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	432	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TCTACAAGCTGATGAAGAGTG	0.488000													56	65					0	0	0.003610	0	0
CDC25B	994	broad.mit.edu	37	20	3782967	3782967	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:3782967G>C	ENST00000245960.5	+	11	1835	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	CDC25B_ENST00000439880.2_Missense_Mutation_p.E366Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.E316Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.E289Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.E339Q|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	380					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GTGTCACGATGAGATCGAGAA	0.582000													7	41					0	0	0.003080	0	0
LTB4R	1241	broad.mit.edu	37	14	24785316	24785316	+	Silent	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:24785316C>G	ENST00000396789.4	+	2	2184	c.459C>G	c.(457-459)ctC>ctG	p.L153L	LTB4R_ENST00000396782.2_Silent_p.L153L|LTB4R_ENST00000345363.3_Silent_p.L153L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	153					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACCCGTCCTCGCGTACCGCA	0.637000													22	58					0	0	0.002299	0	0
FRMPD1	22844	broad.mit.edu	37	9	37737217	37737217	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:37737217C>T	ENST00000539465.1	+	14	2119	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	FRMPD1_ENST00000541302.1_Missense_Mutation_p.A378V|FRMPD1_ENST00000536622.1_Missense_Mutation_p.A331V|FRMPD1_ENST00000377765.3_Missense_Mutation_p.A509V|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	509						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAACAACAAGCGCACCGGGTA	0.532000													19	21					0	0	0.012319	0	0
SLC5A2	6524	broad.mit.edu	37	16	31499002	31499002	+	Silent	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:31499002C>G	ENST00000330498.3	+	7	826	c.807C>G	c.(805-807)ccC>ccG	p.P269P	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	269					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCCGGCACCCCGTGACCGGGG	0.667000													6	44					0	0	0.001984	0	0
CRISP3	10321	broad.mit.edu	37	6	49701492	49701492	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:49701492C>A	ENST00000433368.2	-	5	485	c.416G>T	c.(415-417)tGg>tTg	p.W139L	CRISP3_ENST00000371159.4_Missense_Mutation_p.W147L|CRISP3_ENST00000423399.2_Missense_Mutation_p.W26L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W129L|CRISP3_ENST00000393666.1_Missense_Mutation_p.W116L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	116					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTCATCAAACCAGCTTTGGAT	0.433000													18	52					1.02788e-11	1.55672e-11	0.004990	1	0
TLR9	54106	broad.mit.edu	37	3	52257699	52257699	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:52257699G>A	ENST00000494383.1	-	5	1092	c.1093C>T	c.(1093-1095)Cac>Tac	p.H365Y	TLR9_ENST00000597542.1_Silent_p.L235L|TLR9_ENST00000360658.2_Silent_p.L211L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCACCACAGTGAGGTTGTTGT	0.602000													16	22					0	0	0.006122	0	0
RFC4	5984	broad.mit.edu	37	3	186507803	186507803	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:186507803G>A	ENST00000392481.2	-	11	1328	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	RFC4_ENST00000296273.2_Silent_p.I349I|RFC4_ENST00000433496.1_Silent_p.I322I	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	349					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CACAAAGGCTGATGAGTTGCA	0.358000													5	33					0	0	0.001984	0	0
C1orf43	25912	broad.mit.edu	37	1	154187045	154187045	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:154187045C>G	ENST00000368521.5	-	3	372	c.174G>C	c.(172-174)ttG>ttC	p.L58F	C1orf43_ENST00000368519.1_Missense_Mutation_p.L58F|C1orf43_ENST00000350592.3_Missense_Mutation_p.L24F|C1orf43_ENST00000368516.1_Missense_Mutation_p.L24F|C1orf43_ENST00000368518.1_Missense_Mutation_p.L58F|C1orf43_ENST00000362076.4_Missense_Mutation_p.L24F	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	58						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCTCCTCTTTCAAGTCCTGTT	0.413000													4	104					0	0	0.009096	0	0
RPTOR	57521	broad.mit.edu	37	17	78796025	78796025	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:78796025G>T	ENST00000306801.3	+	8	1277	c.915G>T	c.(913-915)agG>agT	p.R305S	RPTOR_ENST00000570891.1_Missense_Mutation_p.R305S|RPTOR_ENST00000537330.1_Missense_Mutation_p.R120S|RPTOR_ENST00000544334.2_Missense_Mutation_p.R305S|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	305					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGAACGACAGGAGGACGCCCC	0.602000													25	380					2.21704e-12	3.36989e-12	0.002780	1	0
PAX3	5077	broad.mit.edu	37	2	223085999	223085999	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:223085999C>T	ENST00000350526.4	-	6	1036	c.900G>A	c.(898-900)ccG>ccA	p.P300P	PAX3_ENST00000409551.3_Silent_p.P299P|PAX3_ENST00000392069.2_Silent_p.P300P|PAX3_ENST00000336840.6_Silent_p.P300P|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392070.2_Silent_p.P300P|PAX3_ENST00000344493.4_Silent_p.P300P	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	300					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGCAAGGTCGGCATGGCAG	0.542000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						5	255					0	0	0.001168	0	0
MAGI1	9223	broad.mit.edu	37	3	65344796	65344796	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:65344796C>G	ENST00000330909.8	-	24	3749	c.3750G>C	c.(3748-3750)atG>atC	p.M1250I	MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1251					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTCATTTCTCATACATGCAG	0.463000													26	139					0	0	0.004656	0	0
SALL2	6297	broad.mit.edu	37	14	22005046	22005046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr14:22005046G>A	ENST00000327430.3	-	1	304	c.10C>T	c.(10-12)Cga>Tga	p.R4*	SALL2_ENST00000317492.5_Nonsense_Mutation_p.R4*	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	4							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CGCTGCTTTCGCCGAGACATT	0.632000													14	27					0	0	0.004007	0	0
DCAF8	50717	broad.mit.edu	37	1	160209537	160209537	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:160209537G>A	ENST00000368073.3	-	4	1107	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	DCAF8_ENST00000326837.2_Missense_Mutation_p.R225W|DCAF8_ENST00000608310.1_Missense_Mutation_p.R379W|DCAF8_ENST00000610139.1_Missense_Mutation_p.R225W|DCAF8_ENST00000368074.1_Missense_Mutation_p.R225W|DCAF8_ENST00000475733.1_Missense_Mutation_p.R225W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R379W			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	225						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ACTGGCTGCCGCCGTACCCAA	0.537000													5	178					0	0	0.000602	0	0
LRIG1	26018	broad.mit.edu	37	3	66436578	66436578	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:66436578T>A	ENST00000383703.3	-	14	2291	c.1688A>T	c.(1687-1689)aAt>aTt	p.N563I	LRIG1_ENST00000273261.3_Missense_Mutation_p.N539I|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	539	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATGTCTGCATTGGTCAGGAC	0.567000													76	95					0	0	0.003610	0	0
NDNF	79625	broad.mit.edu	37	4	121957890	121957890	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:121957890T>G	ENST00000379692.4	-	4	1762	c.1236A>C	c.(1234-1236)aaA>aaC	p.K412N		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	412										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TAGCTTTAGGTTTTCCTCTAA	0.423000													4	120					0	0	0.009096	0	0
ELN	2006	broad.mit.edu	37	7	73480280	73480280	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:73480280C>T	ENST00000252034.7	+	31	2438	c.2039C>T	c.(2038-2040)gCt>gTt	p.A680V	ELN_ENST00000320492.7_Missense_Mutation_p.A599V|ELN_ENST00000414324.1_Missense_Mutation_p.A656V|ELN_ENST00000458204.1_Missense_Mutation_p.A670V|ELN_ENST00000357036.5_Intron|ELN_ENST00000358929.4_Missense_Mutation_p.A748V|ELN_ENST00000380584.4_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000380562.4_Missense_Mutation_p.A686V|ELN_ENST00000429192.1_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.A661V|ELN_ENST00000380575.4_Intron|ELN_ENST00000320399.6_Missense_Mutation_p.A713V|ELN_ENST00000380553.4_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	742	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCAGGTGCTGCTGGCCTTGGA	0.607000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						26	34					0	0	0.004656	0	0
KCNQ5	56479	broad.mit.edu	37	6	73905045	73905045	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:73905045C>T	ENST00000342056.2	+	15	3162	c.2764C>T	c.(2764-2766)Cta>Tta	p.L922L	KCNQ5_ENST00000414165.2_Silent_p.L793L|KCNQ5_ENST00000403813.2_Silent_p.L894L|KCNQ5_ENST00000370398.1_Silent_p.L903L|KCNQ5_ENST00000355194.4_Silent_p.L903L|KCNQ5_ENST00000402622.2_Silent_p.L913L|KCNQ5_ENST00000355635.3_Silent_p.L904L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	903					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATCAGACTCTCTAAGGACTGG	0.488000													30	42					0	0	0.009535	0	0
PDCD4	27250	broad.mit.edu	37	10	112653936	112653936	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:112653936C>A	ENST00000393104.2	+	10	1405	c.1045C>A	c.(1045-1047)Cac>Aac	p.H349N	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.H360N	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	360	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ACCTCATTTTCACCATGAGCT	0.328000													11	59					2.80697e-09	4.1755e-09	0.010729	1	0
CD109	135228	broad.mit.edu	37	6	74466381	74466381	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:74466381C>G	ENST00000437994.2	+	6	1080	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	CD109_ENST00000422508.2_Missense_Mutation_p.Q140E|CD109_ENST00000287097.5_Missense_Mutation_p.Q217E	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	217						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.Q217E(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACATACTATCAATCATTTCA	0.313000													15	66					0	0	0.004007	0	0
CAMTA1	23261	broad.mit.edu	37	1	7826553	7826553	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:7826553G>A	ENST00000439411.2	+	22	4951	c.4951G>A	c.(4951-4953)Gac>Aac	p.D1651N	CAMTA1_ENST00000303635.7_3'UTR|CAMTA1_ENST00000476864.1_Missense_Mutation_p.D229N			Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGAACTTGAAGACATACAGCA	0.398000			T	WWTR1	epitheliod hemangioendothelioma								8	39					0	0	0.006214	0	0
DCTN1	1639	broad.mit.edu	37	2	74595869	74595869	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:74595869G>A	ENST00000361874.3	-	16	2157	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	DCTN1_ENST00000409240.1_Missense_Mutation_p.R577C|DCTN1_ENST00000394003.3_Missense_Mutation_p.R607C|DCTN1_ENST00000409438.1_Missense_Mutation_p.R480C|DCTN1_ENST00000407639.2_Missense_Mutation_p.R480C|DCTN1_ENST00000409868.1_Missense_Mutation_p.R597C|DCTN1_ENST00000409567.3_Missense_Mutation_p.R594C	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	614					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CAAATGAGACGAGGCATGAGC	0.512000													10	52					0	0	0.008291	0	0
VPS13D	55187	broad.mit.edu	37	1	12381879	12381879	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:12381879G>T	ENST00000358136.3	+	33	7692	c.7562G>T	c.(7561-7563)cGa>cTa	p.R2521L	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2521L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2521					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCATGCCGACTAGGGAAT	0.408000													26	47					2.48779e-11	3.75415e-11	0.005443	1	0
GPANK1	7918	broad.mit.edu	37	6	31630141	31630141	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:31630141G>A	ENST00000375906.1	-	4	1657	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	GPANK1_ENST00000375893.2_Missense_Mutation_p.R325W|GPANK1_ENST00000375896.4_Missense_Mutation_p.R325W|GPANK1_ENST00000375900.4_Missense_Mutation_p.R325W|GPANK1_ENST00000375895.2_Missense_Mutation_p.R325W	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	325						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						GTGGCCACCCGAGGGGGTCTC	0.597000													11	72					0	0	0.010729	0	0
ARVCF	421	broad.mit.edu	37	22	19966493	19966493	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr22:19966493C>T	ENST00000263207.3	-	7	1798	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	ARVCF_ENST00000344269.3_Missense_Mutation_p.E440K|ARVCF_ENST00000406522.1_Missense_Mutation_p.E440K|ARVCF_ENST00000401994.1_Missense_Mutation_p.E440K|ARVCF_ENST00000406259.1_Missense_Mutation_p.E503K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	503					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCGTTGGGCTCACGCTCCCAT	0.597000													11	29					0	0	0.001855	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5242217	5242217	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:5242217C>T	ENST00000274181.7	+	17	2713	c.2575C>T	c.(2575-2577)Cgc>Tgc	p.R859C		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	859	Spacer.		R -> L (in dbSNP:rs16875122).		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R859C(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTCCATGCCTCGCTTGGGGAC	0.552000													13	192					0	0	0.002450	0	0
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													6	136					0	0	0.004482	0	0
RAD54L	8438	broad.mit.edu	37	1	46739349	46739349	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:46739349G>A	ENST00000371975.4	+	14	2214	c.1540G>A	c.(1540-1542)Gac>Aac	p.D514N	RAD54L_ENST00000442598.1_Missense_Mutation_p.D514N	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	514	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCGTAGCAGTGACAAAGTAGT	0.537000								Direct reversal of damage;Homologous recombination					12	19					0	0	0.001368	0	0
PPM1E	22843	broad.mit.edu	37	17	57057840	57057840	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:57057840C>T	ENST00000308249.2	+	7	1845	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	581					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ACCTAGATCTCACACAAATAG	0.468000													13	64					0	0	0.001368	0	0
DOPEY1	23033	broad.mit.edu	37	6	83855310	83855310	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:83855310G>A	ENST00000349129.2	+	25	5869	c.5609G>A	c.(5608-5610)aGa>aAa	p.R1870K	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1861K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1851K|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1870					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTGTCATGAGAGCAGAAACT	0.378000													11	13					0	0	0.008291	0	0
SUPT6H	6830	broad.mit.edu	37	17	27002171	27002171	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:27002171G>C	ENST00000314616.6	+	5	812	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E177Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	177	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AGAAGATGATGAGGAGTCAGG	0.527000													11	73					0	0	0.010729	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221095	45221095	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr20:45221095G>A	ENST00000279027.4	-	6	886	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Silent_p.L243L|SLC13A3_ENST00000290317.5_Silent_p.L243L|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000472148.1_Silent_p.L243L|SLC13A3_ENST00000396360.1_Silent_p.L243L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	290						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCTGCCAACAGGAACAACAGC	0.517000													4	55					0	0	0.009096	0	0
ABCC12	94160	broad.mit.edu	37	16	48162640	48162640	+	Silent	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:48162640G>C	ENST00000311303.3	-	9	1590	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	ABCC12_ENST00000416054.1_Silent_p.L415L|ABCC12_ENST00000448542.1_Silent_p.L415L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	415						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTTATCTATGAGAATTTTCT	0.398000													37	48					0	0	0.009718	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173916487	173916487	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:173916487C>G	ENST00000264111.6	+	31	3212	c.3025C>G	c.(3025-3027)Cga>Gga	p.R1009G	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.R857G|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.R1010G|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.R839G|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.R866G|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.R857G|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.R942G|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.R790G			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	1010	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AGAGCCTCGTCGACCATAGAC	0.403000													9	64					0	0	0.004482	0	0
STAG3	10734	broad.mit.edu	37	7	99798560	99798560	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:99798560C>T	ENST00000426455.1	+	19	2436	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	STAG3_ENST00000317296.5_Missense_Mutation_p.R677C|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R619C	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	677					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTGACTGACCGCTTCCAGCA	0.592000													3	33					0	0	0.004672	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555610	179555610	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:179555610C>T	ENST00000393371.2	-	4	735	c.439G>A	c.(439-441)Gca>Aca	p.A147T	RASGEF1C_ENST00000522500.1_5'UTR|RASGEF1C_ENST00000361132.4_Splice_Site_p.A147T|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	147	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCGGTATGCCTGGTGGGTG	0.597000													3	21					0	0	0.004672	0	0
TSPAN3	10099	broad.mit.edu	37	15	77348409	77348409	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:77348409G>A	ENST00000267970.4	-	2	525	c.252C>T	c.(250-252)gcC>gcT	p.A84A	TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000346495.2_Silent_p.A84A|TSPAN3_ENST00000558394.1_5'UTR|TSPAN3_ENST00000424443.3_Intron|TSPAN3_ENST00000558745.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	84						integral to membrane				kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		ATCTTACCGTGGCAAGTCCAC	0.468000													27	53					0	0	0.008361	0	0
CLSTN2	64084	broad.mit.edu	37	3	140178521	140178521	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr3:140178521C>G	ENST00000458420.3	+	7	1322	c.1132C>G	c.(1132-1134)Cag>Gag	p.Q378E	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	378					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTGACCGATCAGTTCACCAT	0.552000										HNSCC(16;0.037)			8	64					0	0	0.003080	0	0
SLTM	79811	broad.mit.edu	37	15	59191728	59191728	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:59191728T>C	ENST00000380516.2	-	7	1085	c.998A>G	c.(997-999)aAa>aGa	p.K333R	SLTM_ENST00000536328.1_Intron	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	333					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCCTTTTCTTTGTCTCCAGA	0.443000													9	42					0	0	0.006214	0	0
GABRG1	2565	broad.mit.edu	37	4	46043072	46043072	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr4:46043072C>A	ENST00000295452.4	-	9	1498	c.1331G>T	c.(1330-1332)aGa>aTa	p.R444I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	444					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GAAAAATATTCTAGAATAAGA	0.383000													12	59					3.07112e-06	4.44196e-06	0.010729	1	0
RNF213	57674	broad.mit.edu	37	17	78324137	78324137	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:78324137C>T	ENST00000582970.1	+	31	10268	c.10125C>T	c.(10123-10125)ctC>ctT	p.L3375L	RNF213_ENST00000336301.6_Silent_p.L1448L|RNF213_ENST00000508628.2_Silent_p.L3424L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			GTAAAATCCTCATTTTTCAGA	0.338000													4	29					0	0	0.000602	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460611	32460611	+	RNA	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:32460611G>C	ENST00000395900.1	+	0	1489				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCATCTGACAGAGCGCGGAGC	0.592000													5	26					0	0	0.000602	0	0
HOXD4	3233	broad.mit.edu	37	2	177016641	177016641	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:177016641G>C	ENST00000306324.3	+	1	692	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	94						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGCTCCAGGAGAGCCTTGCCC	0.776000													3	8					0	0	0.004672	0	0
XRCC6BP1	91419	broad.mit.edu	37	12	58335497	58335497	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr12:58335497C>A	ENST00000300145.3	+	1	138	c.13C>A	c.(13-15)Ccg>Acg	p.P5T		NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	5					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GGCGGGAGCTCCGGACGAgcg	0.711000													6	7					3.59834e-05	5.116e-05	0.001168	1	0
MS4A1	931	broad.mit.edu	37	11	60229912	60229912	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:60229912C>T	ENST00000534668.1	+	2	354	c.65C>T	c.(64-66)gCt>gTt	p.A22V	MS4A1_ENST00000528313.1_Missense_Mutation_p.A22V|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Missense_Mutation_p.A22V|MS4A1_ENST00000389939.2_Missense_Mutation_p.A22V|MS4A1_ENST00000345732.4_Missense_Mutation_p.A22V	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	22					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GGCCCTATTGCTATGCAATCT	0.443000													23	25					0	0	0.002299	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1810496	1810496	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr16:1810496G>C	ENST00000250894.4	+	12	1574	c.1417G>C	c.(1417-1419)Gaa>Caa	p.E473Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E467Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	473					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGTCAAGCTGGAAAACCGTAT	0.592000													19	64					0	0	0.007413	0	0
FAM208B	54906	broad.mit.edu	37	10	5789825	5789825	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr10:5789825C>T	ENST00000328090.5	+	15	5066	c.4441C>T	c.(4441-4443)Cta>Tta	p.L1481L		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1481								p.L1481V(1)									CGAAATGCCTCTAATATTAAC	0.413000													5	29					0	0	0.000602	0	0
KLK10	5655	broad.mit.edu	37	19	51518712	51518712	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:51518712C>G	ENST00000309958.3	-	5	857	c.639G>C	c.(637-639)atG>atC	p.M213I	KLK10_ENST00000391805.1_Missense_Mutation_p.M213I|KLK10_ENST00000358789.3_Missense_Mutation_p.M213I	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	213	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGCACATATCATGTTGTTGG	0.562000													46	214					0	0	0.011902	0	0
SLC16A8	23539	broad.mit.edu	37	22	38476986	38476986	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr22:38476986G>A	ENST00000320521.5	-	4	1167	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	353					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	AGGAGAGGCCGAAGGCGACGC	0.701000													3	8					0	0	0.009096	0	0
CEP72	55722	broad.mit.edu	37	5	640714	640714	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr5:640714G>C	ENST00000264935.5	+	9	1624	c.1534G>C	c.(1534-1536)Gag>Cag	p.E512Q	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	512					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)			CACACACAAGGAGCTGGTGAG	0.622000													4	70					0	0	0.009096	0	0
SOX9	6662	broad.mit.edu	37	17	70119832	70119832	+	Silent	SNP	G	G	A			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:70119832G>A	ENST00000245479.2	+	3	1206	c.834G>A	c.(832-834)ctG>ctA	p.L278L		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	278					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCGGCGAGCTGAGCAGCGACG	0.672000													14	115					0	0	0.001855	0	0
KLRG2	346689	broad.mit.edu	37	7	139168194	139168194	+	Silent	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr7:139168194C>T	ENST00000340940.4	-	1	264	c.195G>A	c.(193-195)tcG>tcA	p.S65S	KLRG2_ENST00000393039.2_Silent_p.S65S	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	65	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					TTTTCTTGCTCGAGGGCTCCA	0.746000													4	17					0	0	0.009096	0	0
ADD2	119	broad.mit.edu	37	2	70901855	70901855	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr2:70901855C>G	ENST00000264436.4	-	14	2140	c.1696G>C	c.(1696-1698)Gag>Cag	p.E566Q	ADD2_ENST00000407644.2_Missense_Mutation_p.E566Q|ADD2_ENST00000355733.3_Missense_Mutation_p.E566Q	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGTACTCCTCCAACTCCTGG	0.537000													12	68					0	0	0.010729	0	0
SHANK2	22941	broad.mit.edu	37	11	70505935	70505935	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:70505935C>T	ENST00000338508.4	-	23	2061	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	SHANK2_ENST00000423696.2_Missense_Mutation_p.E308K|SHANK2_ENST00000357171.3_Missense_Mutation_p.E99K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E99K|SHANK2_ENST00000409530.1_Missense_Mutation_p.E98K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E98K|SHANK2_ENST00000449116.2_Missense_Mutation_p.E99K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	308					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTCCCTACCTCAATCAAGAAG	0.612000													7	28					0	0	0.006214	0	0
XIST	7503	broad.mit.edu	37	X	73067788	73067788	+	RNA	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chrX:73067788G>C	ENST00000429829.1	-	0	4800					NR_001564.2																						ACATTGTTGTGATCAGTTGCC	0.418000													4	57					0	0	0.009096	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24200927	24200927	+	Silent	SNP	G	G	A	rs143483716		TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr13:24200927G>A	ENST00000382263.3	+	5	625	c.441G>A	c.(439-441)ccG>ccA	p.P147P	TNFRSF19_ENST00000403372.2_Silent_p.P15P|TNFRSF19_ENST00000248484.4_Silent_p.P147P|TNFRSF19_ENST00000382258.4_Silent_p.P147P	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	147					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTTACGAACCGCACTGTGAGT	0.463000													24	10					0	0	0.006320	0	0
NDUFV2	4729	broad.mit.edu	37	18	9134252	9134252	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr18:9134252G>C	ENST00000400033.1	+	9	851	c.734G>C	c.(733-735)gGa>gCa	p.G245A	NDUFV2_ENST00000465096.1_3'UTR|RP11-21J18.1_ENST00000579126.1_RNA|RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.G242A			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	242					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	AAGGGACCTGGATTTGGTGTA	0.363000													6	54					0	0	0.001168	0	0
SNHG12	85028	broad.mit.edu	37	1	28907692	28907692	+	RNA	DEL	C	C	-			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr1:28907692delC	ENST00000488745.1	-	0	943				SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA																							CCACGCTGTGCCAATAGCTGG	0.493													6	10	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30570264	30570266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr6:30570264_30570266delGGA	ENST00000376511.2	-	19	2712_2714	c.2160_2162delTCC	c.(2158-2163)cctcca>cca	p.720_721PP>P		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	720	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTCGGAATggaggaggaggag	0.670													7	94	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gagaag>gag	p.K545del	RABL6_ENST00000311502.7_In_Frame_Del_p.K660del|RABL6_ENST00000371663.4_In_Frame_Del_p.K661del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000357466.2_Intron					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													7	57	---	---	---	---					
HSPA8	3312	broad.mit.edu	37	11	122928486	122928487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr11:122928486_122928487insG	ENST00000534624.1	-	9	2172_2173	c.1896_1897insC	c.(1894-1899)ccctctfs	p.S633fs	HSPA8_ENST00000526110.1_Frame_Shift_Ins_p.S614fs|HSPA8_ENST00000534319.1_Frame_Shift_Ins_p.S397fs|HSPA8_ENST00000532636.1_Frame_Shift_Ins_p.S633fs|HSPA8_ENST00000227378.3_Frame_Shift_Ins_p.S633fs|HSPA8_ENST00000533540.1_Frame_Shift_Ins_p.S487fs|HSPA8_ENST00000453788.2_Frame_Shift_Ins_p.S480fs	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	633					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCACCACCAGAGGGAGGAGCTC	0.510													39	62	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49047527	49047530	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr13:49047527_49047530delGTGA	ENST00000267163.4	+	24	2658		c.e24+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCATTCGGGGTGAGTATTTTCTT	0.270		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			35	48	---	---	---	---					
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249																											TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586													2	4	---	---	---	---					
NCOR1	9611	broad.mit.edu	37	17	15995343	15995343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr17:15995343delA	ENST00000268712.3	-	22	3107	c.2850delT	c.(2848-2850)attfs	p.I950fs	NCOR1_ENST00000395851.1_Frame_Shift_Del_p.I966fs|NCOR1_ENST00000395848.1_Frame_Shift_Del_p.I857fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	950					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGGGTTCCAATTGGTATGT	0.433													51	32	---	---	---	---					
CACNG7	59284	broad.mit.edu	37	19	54418637	54418637	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr19:54418637delC	ENST00000391767.1	+	4	514	c.302delC	c.(301-303)accfs	p.T101fs	CACNG7_ENST00000222212.2_Frame_Shift_Del_p.T101fs|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Frame_Shift_Del_p.T101fs			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	101					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CGCACGGCCACCCCCTTCCCC	0.612													24	46	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11047597	11047598	+	RNA	INS	-	-	A	rs61660722		TCGA-UY-A78L-01A-12D-A339-08	TCGA-UY-A78L-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b21c2b7d-c283-401e-abc1-17bc78aa36f3	710e318b-bf41-47c3-8094-08ea43433a91	g.chr21:11047597_11047598insA	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCCGATTGTCTAAAAAGTAAGA	0.351													13	342	---	---	---	---					
