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
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	124					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834274	125834274	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:125834274A>G	ENST00000299308.3	+	2	337	c.329A>G	c.(328-330)aAc>aGc	p.N110S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	110						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCTTTGGAAACATGGACAAA	0.468000													4	114					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95290099	95290099	+	Silent	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:95290099C>T	ENST00000271227.6	+	3	288	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SLC44A3_ENST00000446120.2_Silent_p.L26L|SLC44A3_ENST00000527077.1_Silent_p.L26L|SLC44A3_ENST00000467909.1_Silent_p.L14L|SLC44A3_ENST00000532427.1_Silent_p.L14L|SLC44A3_ENST00000529450.1_Silent_p.L62L	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	62						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAAGACTCCTCTTTGGCTATG	0.552000													6	120					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64810532	64810532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:64810532C>A	ENST00000332707.5	+	4	727	c.198C>A	c.(196-198)taC>taA	p.Y66*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	66	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AAGTTAAATACAAGTAAGGCT	0.318000													3	77					1	1	1	1	0
FRG1B	0	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													4	47					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49385438	49385438	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:49385438C>T	ENST00000221399.3	-	12	1442	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	433					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGTTGGTAACGACTCAGTAG	0.502000													8	24					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									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)		GGGGTAAAGGAGAGAAATCTC	0.363000													8	132					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77476902	77476902	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:77476902G>T	ENST00000296043.6	+	2	1262	c.309G>T	c.(307-309)agG>agT	p.R103S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	103	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGACCCTCAGGCTGGTAGTGC	0.592000													3	52					1	1	1	1	0
MKLN1	4289	broad.mit.edu	37	7	131012679	131012679	+	Silent	SNP	C	C	T	rs142689824	by1000genomes	TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr7:131012679C>T	ENST00000352689.6	+	1	61	c.21C>T	c.(19-21)gtC>gtT	p.V7V	MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	7					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCGGAGCTGTCGCTGCGGCGC	0.677000													7	64					0	0	1	0	0
STX17	55014	broad.mit.edu	37	9	102713485	102713485	+	Silent	SNP	A	A	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr9:102713485A>G	ENST00000259400.6	+	4	469	c.333A>G	c.(331-333)gaA>gaG	p.E111E	STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Silent_p.E111E|STX17_ENST00000534052.1_Silent_p.E111E	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	111					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCATTTGGAATCTGTAGAAG	0.393000													11	40					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:49724313G>T	ENST00000551245.1	+	13	1796	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I			Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592000													5	74					0.0215528	0.0231692	1	1	0
LRP1	4035	broad.mit.edu	37	12	57605751	57605751	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:57605751C>G	ENST00000243077.3	+	87	13766	c.13300C>G	c.(13300-13302)Ctg>Gtg	p.L4434V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4434					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCTGCTGCTGGTTCTGGT	0.547000													3	187					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135288629	135288629	+	Translation_Start_Site	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr5:135288629C>T	ENST00000512872.1	-	0	198				LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y			O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2						chemotaxis|skeletal system development	cytoplasm|extracellular space		p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517000													8	181					0	0	1	0	0
SLC5A6	8884	broad.mit.edu	37	2	27426733	27426733	+	Silent	SNP	G	G	A	rs59827696		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr2:27426733G>A	ENST00000310574.3	-	10	1481	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SLC5A6_ENST00000408041.1_Silent_p.F336F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	336					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	AGTACAGGACGAACTGCAAGC	0.592000													3	27					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52869962	52869962	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:52869962G>A	ENST00000356971.3	-	15	2373	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	ICK_ENST00000350082.5_Silent_p.Y628Y	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	628					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCCGAGATGCGTACTTGGAAG	0.567000													4	180					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050055	36050055	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:36050055A>T	ENST00000379919.4	-	1	777	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	74					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACCACTTCAAATTCGGTGGG	0.572000													4	132					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56207613	56207613	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:56207613T>C	ENST00000508342.1	-	1	1716	c.1417A>G	c.(1417-1419)Aag>Gag	p.K473E	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.K473E|NEDD4_ENST00000506154.1_Missense_Mutation_p.K473E			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	473					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAATTGTGCTTAAGGCTGGAT	0.378000													5	89					0	0	1	0	0
LRP2BP	55805	broad.mit.edu	37	4	186291863	186291863	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:186291863G>A	ENST00000362004.3	-	7	1726	c.915C>T	c.(913-915)caC>caT	p.H305H	LRP2BP_ENST00000505916.1_Silent_p.H303H|LRP2BP_ENST00000328559.7_Silent_p.H303H|LRP2BP_ENST00000510776.1_Silent_p.H277H			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	303						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GACACCTTGCGTGGTAGAAGG	0.478000													5	98					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72137670	72137670	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr16:72137670G>A	ENST00000268482.3	+	13	2316	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	603	Helicase ATP-binding.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGAGATGGGGGGAAACCTTGG	0.542000													3	54					0	0	1	0	0
WNT4	54361	broad.mit.edu	37	1	22447975	22447975	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:22447975G>A	ENST00000290167.6	-	3	451	c.408C>T	c.(406-408)tgC>tgT	p.C136C	WNT4_ENST00000542383.1_Silent_p.C81C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	136					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGTCACAGCCGCACTTCTCCA	0.672000													4	121					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160205735	160205735	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:160205735G>A	ENST00000321394.7	-	6	913	c.633C>T	c.(631-633)atC>atT	p.I211I	TCP1_ENST00000392168.2_Silent_p.I56I|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000420894.2_Silent_p.I211I	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	211					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CATAGCCACTGATGAGCATAC	0.413000													36	86					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33586571	33586571	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr17:33586571G>A	ENST00000299977.4	+	2	1010	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	SLFN5_ENST00000592325.1_Missense_Mutation_p.A288T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A288T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	288					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAAGGGGGCCCTCCGTGG	0.473000													4	167					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2832078	2832078	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr8:2832078C>T	ENST00000520002.1	-	57	9193	c.8638G>A	c.(8638-8640)Gcc>Acc	p.A2880T	CSMD1_ENST00000602723.1_Missense_Mutation_p.A2822T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2822T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2880T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2821T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2879T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2880	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCACGACGGCGCCATAGGTA	0.557000													6	22					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	417066	417066	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:417066T>G	ENST00000399788.2	-	23	3846	c.3484A>C	c.(3484-3486)Aaa>Caa	p.K1162Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.K1162Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1162					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGCAAAATTTTACTTCTTCT	0.448000			T	NUP98	AML								28	95					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849389	94849389	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:94849389G>A	ENST00000448921.1	-	4	758	c.186C>T	c.(184-186)taC>taT	p.Y62Y	SERPINA1_ENST00000402629.1_Silent_p.Y62Y|SERPINA1_ENST00000449399.3_Silent_p.Y62Y|SERPINA1_ENST00000404814.4_Silent_p.Y62Y|SERPINA1_ENST00000437397.1_Silent_p.Y62Y|SERPINA1_ENST00000393087.4_Silent_p.Y62Y|SERPINA1_ENST00000393088.4_Silent_p.Y62Y|SERPINA1_ENST00000355814.4_Silent_p.Y62Y|SERPINA1_ENST00000440909.1_Silent_p.Y62Y	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	62					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CCAGCTGGCGGTATAGGCTGA	0.547000													4	157					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57189657	57189657	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:57189657G>A	ENST00000504228.1	+	7	3407	c.3302G>A	c.(3301-3303)cGg>cAg	p.R1101Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094Q			Q6ZU35	K1211_HUMAN	KIAA1211	1101										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGGGTTTCGGGAGCAGCAG	0.522000													3	27					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20004644	20004644	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:20004644C>A	ENST00000400230.2	-	17	1310	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	TPTE2_ENST00000390680.2_Missense_Mutation_p.K345N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K345N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K382N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K311N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K382N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K422N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K311N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	422	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAGACAACCTTTTTCTCCA	0.328000													4	21					0.150653	0.158002	1	1	0
AMOT	154796	broad.mit.edu	37	X	112054552	112054552	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chrX:112054552C>A	ENST00000371959.3	-	3	1461	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S	AMOT_ENST00000371958.1_Missense_Mutation_p.A256S|AMOT_ENST00000371962.1_Missense_Mutation_p.A256S|AMOT_ENST00000524145.1_Missense_Mutation_p.A488S|AMOT_ENST00000304758.1_Missense_Mutation_p.A79S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	488					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCTCTAGGGCCTCTCTTTTG	0.478000													6	150					2.74318e-10	3.27658e-10	1	1	0
NDUFV3	4731	broad.mit.edu	37	21	44329112	44329112	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr21:44329112G>A	ENST00000354250.2	+	4	1472	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.R103Q	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	103					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TCCTCAGGCCGGGAGTCACCT	0.512000													8	173					0	0	1	0	0
RMDN3	55177	broad.mit.edu	37	15	41046872	41046872	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:41046872C>A	ENST00000260385.6	-	1	1177	c.110G>T	c.(109-111)cGg>cTg	p.R37L	RMDN3_ENST00000338376.3_Missense_Mutation_p.R37L					regulator of microtubule dynamics 3																		ACGCTGGGTCCGTTTCCATCG	0.662000													3	64					0.00909568	0.0100286	1	1	0
EML2	24139	broad.mit.edu	37	19	46124495	46124495	+	Silent	SNP	G	G	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:46124495G>T	ENST00000536630.1	-	14	1671	c.1533C>A	c.(1531-1533)tcC>tcA	p.S511S	EML2_ENST00000245925.3_Silent_p.S364S|EML2_ENST00000589876.1_Silent_p.S364S|EML2_ENST00000587152.1_Silent_p.S565S	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	364					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTGTGTGCACGGAGCCCTGCA	0.642000													3	59					6.4e-05	7.24211e-05	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68274320	68274320	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:68274320G>A	ENST00000347230.4	-	5	819	c.681C>T	c.(679-681)tgC>tgT	p.C227C	ZFYVE26_ENST00000555452.1_Silent_p.C227C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	227					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTTCTGCGGGGCAACGCAGAG	0.622000													3	53					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)del	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709													2	4	---	---	---	---					
RP11-333E13.4	0	broad.mit.edu	37	4	40057344	40057345	+	RNA	INS	-	-	CAC			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:40057344_40057345insCAC	ENST00000381811.2	-	0	239					NR_027277.1																						accactaccatcaccaccacca	0.441													4	5	---	---	---	---					
NHLRC2	374354	broad.mit.edu	37	10	115614727	115614727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr10:115614727delG	ENST00000369301.3	+	1	308	c.96delG	c.(94-96)cafs	p.Q32fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	32					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTACCCAGCAGGAGAAGGACA	0.672													2	4	---	---	---	---					
C11orf95	65998	broad.mit.edu	37	11	63531514	63531516	+	RNA	DEL	CTC	CTC	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr11:63531514_63531516delCTC	ENST00000433688.1	-	0	1597_1599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95							intracellular	zinc ion binding										GCTCACCCCActcctcctcctcc	0.714													3	5	---	---	---	---					
DNAH10	196385	broad.mit.edu	37	12	124356031	124356031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:124356031delC	ENST00000409039.3	+	44	7338	c.7313delC	c.(7312-7314)acfs	p.T2438fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2438	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTCGGACTACCTGGATATTG	0.433													2	4	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312													3	5	---	---	---	---					
RP11-123M6.2	0	broad.mit.edu	37	14	101311732	101311734	+	RNA	DEL	CCT	CCT	-	rs61149909		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:101311732_101311734delCCT	ENST00000554041.1	-	0	143																											CCTCATCCGCCCTCCTCCTCCTC	0.606													2	4	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													2	4	---	---	---	---					
SPPL2B	56928	broad.mit.edu	37	19	2333196	2333197	+	RNA	DEL	CT	CT	-	rs34753713		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:2333196_2333197delCT	ENST00000452401.2	+	0	146				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CTGGACTAGACTCTGCTGGGAG	0.713													3	5	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	12	---	---	---	---					
