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
DKK2	27123	broad.mit.edu	37	4	107956655	107956655	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:107956655G>A	uc003hyi.3	-	0	799	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.R32W	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	32					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGTTTGGCCCGCGAACTGCCG	0.637000													4	169					0	0	1	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9931303	9931303	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:9931303G>A	uc001aqk.1	-	4	436	c.129C>T	c.(127-129)acC>acT	p.T43T	CTNNBIP1_uc001aql.1_Silent_p.T43T	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	Homo sapiens catenin, beta interacting protein 1 (CTNNBIP1), transcript variant 1, mRNA.	43					Wnt receptor signaling pathway|anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of Wnt receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTGCATAGGTGCGCAGGA	0.647000													2	8					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67876808G>A	uc002euo.3	+	0	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_uc002eun.4_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	Homo sapiens THAP domain containing 11 (THAP11), mRNA.	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667000													5	94					0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34648411	34648411	+	Silent	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:34648411C>A	uc010ucc.2	+	7	2584	c.2202C>A	c.(2200-2202)tcC>tcA	p.S734S	C15orf55_uc010ucd.2_Silent_p.S724S|C15orf55_uc001zif.3_Silent_p.S706S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	706						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGAATCCTTCCCCTAGAGCAG	0.557000			T	"""BRD3, BRD4"""	lethal midline carcinoma								12	40					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5395133	5395133	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5395133C>T	uc002kmt.1	-	20	3172	c.3086G>A	c.(3085-3087)gGc>gAc	p.G1029D	EPB41L3_uc010wzh.1_Missense_Mutation_p.G860D|EPB41L3_uc002kmu.1_Missense_Mutation_p.G807D|EPB41L3_uc010dkq.1_Missense_Mutation_p.G698D|EPB41L3_uc002kms.1_Missense_Mutation_p.G264D|EPB41L3_uc010wze.1_Missense_Mutation_p.G334D|EPB41L3_uc010wzf.1_Missense_Mutation_p.G326D|EPB41L3_uc010wzg.1_Missense_Mutation_p.G301D|EPB41L3_uc010dkr.2_Missense_Mutation_p.G421D	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1029	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTGAAATGCCCCCTTTCAC	0.478000													3	91					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088411	92088411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:92088411G>A	uc001pdj.4	+	0	3150	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1045	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S1044S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTCCCAGACTTTGCTGT	0.498000										TCGA Ovarian(4;0.039)			4	53					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72409217	72409217	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:72409217T>G	uc003twk.2	+	5	1364	c.1364T>G	c.(1363-1365)aTa>aGa	p.I455R	POM121_uc003twj.3_Missense_Mutation_p.I190R|POM121_uc010lam.1_Missense_Mutation_p.I190R	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	455	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCAAAGAAAATAAGGTACTTG	0.537000													14	111					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:53116885A>G	uc002pzu.4	-	1	2177	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_uc002pzv.4_Silent_p.H311H|ZNF83_uc010eps.3_Silent_p.H283H|ZNF83_uc010ept.3_Silent_p.H311H|ZNF83_uc010epu.3_Silent_p.H311H|ZNF83_uc010epw.3_Silent_p.H311H|ZNF83_uc010epv.3_Silent_p.H311H|ZNF83_uc010epx.3_Silent_p.H283H|ZNF83_uc010epy.3_Silent_p.H311H|ZNF83_uc010epz.3_Silent_p.H283H|ZNF83_uc010eqb.2_Silent_p.H283H|ZNF83_uc021uyx.1_Silent_p.H311H	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													3	81					0	0	1	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4744195	4744195	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:4744195G>T	uc002cxe.3	+	1	404	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	NUDT16L1_uc002cxf.2_Missense_Mutation_p.A124S|NUDT16L1_uc021tci.1_Missense_Mutation_p.A124S	NM_032349	NP_115725	Q9BRJ7	SDOS_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 (NUDT16L1), transcript variant 1, mRNA.	124	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GCAGCTGCACGCCGTGGAGAT	0.761000													4	3					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885088	88885088	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr8:88885088C>T	uc003ydz.3	-	0	1209	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	371								p.R371H(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCCCCGAGGCGAGAAGAGAA	0.592000													17	39					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90139131	90139131	+	RNA	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:90139131C>T	uc010yts.2	+	29		c.3314C>T								Parts of antibodies, mostly variable regions.																		TCGCTCAGCTCCTGGGGCTCC	0.522000													4	269					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231118	42231118	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:42231118G>A	uc003ose.2	-	7	2387	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Silent_p.A608A	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	608	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGGGGGCGGCAACGGTGC	0.637000													3	140					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285695	130285695	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:130285695G>A	uc010htl.3	+	3	1463	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	478	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.A477V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTTGGGGCCGTTCAGTATGC	0.498000													3	158					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70990553	70990553	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:70990553G>T	uc003pfg.4	-	9	1096	c.937C>A	c.(937-939)Cca>Aca	p.P313T	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Missense_Mutation_p.P70T	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	313	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.P313T(2)		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						GGAGCTCCTGGCTTTCCCGGT	0.627000													4	8					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:57955885C>G	uc002qoq.2	+	2	1623	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q457E(2)|p.H456H(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423000													4	77					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144823875	144823875	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:144823875G>A	uc009wig.1	+	15	2104	c.1910G>A	c.(1909-1911)tGt>tAt	p.C637Y	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.C440Y|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.C299Y	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	639										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)		CTGTATAGATGTTATTCAACT	0.488000													4	35					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154677383	154677383	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:154677383A>G	uc003wlk.3	+	21	2303	c.2174A>G	c.(2173-2175)aAg>aGg	p.K725R	DPP6_uc003wli.3_Missense_Mutation_p.K661R|DPP6_uc003wlm.3_Missense_Mutation_p.K663R|DPP6_uc011kvq.2_Missense_Mutation_p.K618R	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	725					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCCCAGCAAAGGGAGAAAAT	0.517000													2	8					0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219735816	219735816	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:219735816C>T	uc002vjc.1	+	1	363	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	50					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCCGGGCGGCAGGCCGA	0.667000													6	123					0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140007905	140007905	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:140007905G>A	uc004clh.3	-	4	559	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	DPP7_uc011meq.1_Missense_Mutation_p.P200L	NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	177						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCCACCAGGTGGGGATACTTC	0.642000													3	37					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673324	125673324	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:125673324C>T	uc004bnh.3	-	1	1117	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	ZBTB6_uc022bnb.1_Missense_Mutation_p.R343Q	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	Homo sapiens zinc finger and BTB domain containing 6 (ZBTB6), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCGGATGTGTCGGTTGAGATT	0.413000													12	67					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5934619	5934619	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:5934619G>A	uc001alq.2	-	21	3411	c.3143C>T	c.(3142-3144)gCc>gTc	p.A1048V		NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1048					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGGGGGGCCAGGCTGCC	0.652000													4	19					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39053767	39053767	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:39053767G>C	uc002rrf.3	-	14	2803	c.2704C>G	c.(2704-2706)Cct>Gct	p.P902A	DHX57_uc002rrd.4_Missense_Mutation_p.P286A|DHX57_uc002rre.3_Missense_Mutation_p.P335A	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	902	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGCAGGAGGTTTTACAAAC	0.383000													3	55					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67895763	67895763	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:67895763G>A	uc001ddv.3	-	0	361	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERBP1_uc001ddy.3_Missense_Mutation_p.S74F|SERBP1_uc001ddw.3_Missense_Mutation_p.S74F|SERBP1_uc001ddx.3_Missense_Mutation_p.S74F	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	Homo sapiens SERPINE1 mRNA binding protein 1 (SERBP1), transcript variant 1, mRNA.	74					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTCTTTCTGGGACTCCTTGCG	0.667000													14	86					0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607230	84607230	+	Silent	SNP	T	T	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:84607230T>C	uc004amn.3	+	3	1892	c.1845T>C	c.(1843-1845)tcT>tcC	p.S615S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	615						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGGCACGGTCTCTTTTGCCAT	0.478000													4	81					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419867	5419867	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5419867G>A	uc002kmt.1	-	11	1435	c.1349C>T	c.(1348-1350)aCt>aTt	p.T450I	EPB41L3_uc010wzh.1_Missense_Mutation_p.T468I|EPB41L3_uc002kmu.1_Missense_Mutation_p.T468I|EPB41L3_uc010dkq.1_Missense_Mutation_p.T359I|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.T29I	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	450	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G449C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTACTGGCCAGTACCAACCTC	0.438000													3	117					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106790894	106790894	+	Splice_Site	SNP	A	A	G	rs142575277	by1000genomes	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr14:106790894A>G	uc021ser.1	-	621		c.17496_splice	c.e621+1							Parts of antibodies, mostly variable regions.																		ACCTGCCTCCAGGGCTGACTC	0.567000													3	26					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556886	35556886	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:35556886G>A	uc002nxq.2	+	12	1410	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	HPN_uc002nxr.2_Missense_Mutation_p.V389I|HPN_uc010xsh.1_Missense_Mutation_p.V358I|HPN_uc002nxt.1_Missense_Mutation_p.V273I|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	389	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G388G(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GAAGCCAGGCGTCTACACCAA	0.587000													4	169					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	31977510	31977510	+	RNA	SNP	C	C	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:31977510C>G	uc021yvf.1	-	8		c.2302G>C						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGCCGCCCCCATCAGTCT	0.652000													5	24					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:18778612C>T	uc011ago.1	-	1		c.208G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCGGCCACGGCAGCCCTGGTG	0.637000													3	14					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242060	126242060	+	Silent	SNP	C	C	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:126242060C>G	uc003ifj.4	+	0	4494	c.4494C>G	c.(4492-4494)gcC>gcG	p.A1498A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1498	Cadherin 14.				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						CTGTAAAAGCCAATGATCAAG	0.383000													22	99					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57506220	57506220	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:57506220A>G	uc001nlc.2	+	4	622	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	CTNND1_uc001nlf.2_Intron|TMX2_uc001nld.2_Missense_Mutation_p.I82V|TMX2_uc001nle.2_Missense_Mutation_p.I138V|TMX2_uc021qji.1_Non-coding_Transcript|C11orf31_uc021qjj.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	176	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ATTTGCCCCTATCTATGCTGA	0.473000													32	155					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950517	198950517	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:198950517C>T	uc010fsp.3	+	1	2674	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	PLCL1_uc002uuv.4_Missense_Mutation_p.A680V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	759	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAATTCCAGCGGATTGTTCG	0.418000													10	52					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183862	89183862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:89183862G>A	uc003hrm.4	-	6	1394	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I		NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	335	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GTTATCCTCAGTACCGTACTG	0.423000													10	39					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71096126	71096126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096126G>A	uc003dol.3	-	5	954	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	FOXP1_uc003dom.3_Nonsense_Mutation_p.Q135*|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Nonsense_Mutation_p.Q211*|FOXP1_uc003doo.3_Nonsense_Mutation_p.Q211*|FOXP1_uc003dop.3_Nonsense_Mutation_p.Q211*|FOXP1_uc021xao.1_Nonsense_Mutation_p.Q211*|FOXP1_uc003doq.1_Nonsense_Mutation_p.Q210*|FOXP1_uc003doi.3_Nonsense_Mutation_p.Q111*|FOXP1_uc003dok.3_Nonsense_Mutation_p.Q137*|FOXP1_uc003doj.3_Nonsense_Mutation_p.Q213*	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGGCAGGCTGCCCGGGCTGA	0.532000			T	PAX5	ALL								24	262					0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24982300	24982300	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:24982300C>A	uc003aaq.2	-	3	531	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	GGT1_uc003aan.1_Intron|FAM211B_uc003aao.2_Non-coding_Transcript	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	Homo sapiens family with sequence similarity 211, member B (FAM211B), mRNA.	168																	ATGTGTTGCACGTCCTGTGTC	0.617000													7	355					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52868989	52868989	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:52868989C>A	uc002pyx.4	+	5	764	c.358C>A	c.(358-360)Cct>Act	p.P120T	ZNF610_uc002pyy.4_Missense_Mutation_p.P120T|ZNF610_uc002pyz.4_Missense_Mutation_p.P77T|ZNF610_uc002pza.3_Missense_Mutation_p.P120T	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAAAACAAGCCTATTAAAAA	0.403000													5	148					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:37516516C>A	uc002rqd.3	-	3	1255	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	PRKD3_uc002rqf.1_Missense_Mutation_p.A234S	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	234					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGGAAGGGCTACATATTCA	0.418000													3	68					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94526101	94526101	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:94526101A>G	uc001dqh.3	-	13	2256	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	ABCA4_uc010otn.1_Missense_Mutation_p.F718L	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	718					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATGATGAATATCGTCAGG	0.468000													9	54					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:57955884C>T	uc002qoq.2	+	2	1622	c.1368C>T	c.(1366-1368)caC>caT	p.H456H		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H456H(2)|p.H369H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423000													4	77					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71096127	71096127	+	Silent	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096127C>A	uc003dol.3	-	5	953	c.630G>T	c.(628-630)ggG>ggT	p.G210G	FOXP1_uc003dom.3_Silent_p.G134G|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.G210G|FOXP1_uc003doo.3_Silent_p.G210G|FOXP1_uc003dop.3_Silent_p.G210G|FOXP1_uc021xao.1_Silent_p.G210G|FOXP1_uc003doq.1_Silent_p.G209G|FOXP1_uc003doi.3_Silent_p.G110G|FOXP1_uc003dok.3_Silent_p.G136G|FOXP1_uc003doj.3_Silent_p.G212G	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	210	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGCAGGCTGCCCGGGCTGAA	0.532000			T	PAX5	ALL								25	258					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750937	94750937	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:94750937T>A	uc003hta.1	+	0	860	c.860T>A	c.(859-861)gTg>gAg	p.V287E		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	287					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGGTACTCGGTGCAGCTGGAC	0.647000													7	89					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3168943	3168943	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:3168943G>A	uc002cub.3	+	5	657	c.522G>A	c.(520-522)gcG>gcA	p.A174A	ZNF205_uc002cua.3_Silent_p.A174A	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	174	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCCTCAAGCGCACGGCAAGG	0.652000													3	144					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5735120	5735120	+	Silent	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:5735120C>T	uc003gil.1	+	4	844	c.660C>T	c.(658-660)gaC>gaT	p.D220D	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	220					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTTAAAAGACCTGCTGCATT	0.468000													63	281					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410278	159410278	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:159410278C>T	uc010piv.2	+	0	767	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	244					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGTTGAGGGCCGGAAGAAGGC	0.478000													7	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592402	179592402	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:179592402A>C	uc021vsy.1	-	64	16396	c.16171T>G	c.(16171-16173)Tca>Gca	p.S5391A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2052A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6318	Ig-like 34.						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)			GCATCCACTGAGTAGAGATTT	0.403000													13	220					0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94040719	94040719	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:94040719G>A	uc021qou.1	+	3	614	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	205						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						AACAGTGGGCGGTGTCTCCAG	0.602000													4	150					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr12:5155075G>A	uc001qni.3	+	0	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592000													3	27					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105829	42105829	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:42105829C>A	uc001zok.4	+	9	1134	c.848C>A	c.(847-849)gCc>gAc	p.A283D	MAPKBP1_uc010bci.3_Missense_Mutation_p.A277D|MAPKBP1_uc010udb.2_Missense_Mutation_p.A165D|MAPKBP1_uc001zoj.4_Missense_Mutation_p.A277D|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	283										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCACAGTGGCCCACTGCATC	0.582000													7	110					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21492720	21492720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:21492720C>T	uc002kuq.3	+	55	7290	c.7204C>T	c.(7204-7206)Cga>Tga	p.R2402*	LAMA3_uc002kur.3_Nonsense_Mutation_p.R2346*|LAMA3_uc002kus.4_Nonsense_Mutation_p.R793*|LAMA3_uc002kut.4_Nonsense_Mutation_p.R737*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2402	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCGAAGTCCGACTGCCAAA	0.443000													8	86					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627436	40627436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:40627436C>A	uc001zlh.4	-	10	1544	c.1528G>T	c.(1528-1530)Gga>Tga	p.G510*	C15orf52_uc010ucn.2_Nonsense_Mutation_p.G300*	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	510										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TGGCTGCCTCCTCTCGTGGGC	0.682000													5	212					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010244	32010244	+	Silent	SNP	C	C	G	rs149810124	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:32010244C>G	uc003nzl.2	-	39	12394	c.12192G>C	c.(12190-12192)ggG>ggC	p.G4064G	TNXB_uc003nzg.1_Silent_p.G495G|TNXB_uc003nzh.1_Silent_p.G533G	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4111					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGCCGCCCCCATCAGTCT	0.652000													5	71					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103986390	103986390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr10:103986390T>C	uc001kut.3	+	0	248	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	29					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CATGAGGCCCTTTTTCGAGGA	0.532000													3	69					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32800949	32800949	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:32800949G>C	uc011axj.1	+	14	1853	c.1776_splice	c.e14-1	p.K592_splice	CNOT10_uc011axi.1_Splice_Site_p.K304_splice|CNOT10_uc003cfc.1_Splice_Site_p.K532_splice|CNOT10_uc003cfd.1_Splice_Site_p.K531_splice|CNOT10_uc003cfe.1_Splice_Site_p.R505_splice|CNOT10_uc010hfv.1_Splice_Site|CNOT10_uc010hfw.1_Splice_Site_p.K227_splice	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	532					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTGTGTTATAGGTGCTCCATA	0.428000													18	491					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88484958	88484958	+	Missense_Mutation	SNP	G	G	A	rs144146961	by1000genomes	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:88484958G>A	uc002ssy.4	+	6	2880	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	THNSL2_uc002ssw.4_Intron|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkr.1_Missense_Mutation_p.V397M	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	397					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCGGTGGCCGTGAACTACCA	0.587000													3	19					0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66291013	66291013	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:66291013G>A	uc001oii.1	+	9	1106	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Intron|BBS1_uc010rpg.1_Missense_Mutation_p.S209N|BBS1_uc001oij.1_Missense_Mutation_p.S306N|BBS1_uc001oik.1_Missense_Mutation_p.S230N|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	306					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTGGTGGGCAGCACCCAAGAC	0.597000									Bardet-Biedl syndrome				3	82					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67988583	67988583	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67988583G>C	uc010vkj.1	-	4	684	c.644C>G	c.(643-645)gCa>gGa	p.A215G	SLC12A4_uc010ceu.2_Missense_Mutation_p.A207G|SLC12A4_uc010vkh.1_Missense_Mutation_p.A182G|SLC12A4_uc002euz.2_Missense_Mutation_p.A213G|SLC12A4_uc010vki.1_Missense_Mutation_p.A213G|SLC12A4_uc002eva.2_Missense_Mutation_p.A213G|SLC12A4_uc002evb.2_Non-coding_Transcript|SLC12A4_uc010cew.1_Missense_Mutation_p.A96G	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	213					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTACATGGCTGCTGCGAATGT	0.562000													5	86					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:12187443C>G	uc002mtb.2	+	3	1651	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													3	38					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:97736519_97736521delGCT	uc003upd.2	+	0	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---					
JAG2	3714	broad.mit.edu	37	14	105615582	105615582	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr14:105615582delA	uc001yqg.3	-	12	2082	c.1678delT	c.(1678-1680)tgcfs	p.C560fs	JAG2_uc001yqf.3_5'UTR|JAG2_uc001yqh.3_Frame_Shift_Del_p.C522fs	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	560	EGF-like 9.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCAGGCGCAGTAATAGTCA	0.662													62	334	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33261113	33261114	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:33261113_33261114insG	uc001zhf.4	-	3	2119_2120	c.2119_2120insC	c.(2119-2121)cttfs	p.L707fs	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	930	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGAGTTAGGAAgtgggggtggg	0.663													3	6	---	---	---	---					
LOC390660	390660	broad.mit.edu	37	15	82620383	82620384	+	RNA	INS	-	ACCCAGG	ACCCAGG			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:82620383_82620384insACCCAGG	uc021ssl.1	+	18		c.3863_3864insACCCAGG			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GCCTGCCCTGAACCCAGGACCC	0.663													2	4	---	---	---	---					
LRRC59	55379	broad.mit.edu	37	17	48460506	48460508	+	In_Frame_Del	DEL	AGC	-	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr17:48460506_48460508delAGC	uc002iqt.3	-	6	1001_1003	c.765_767delGCT	c.(763-768)ctgcta>cta	p.255_256LL>L		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	Homo sapiens leucine rich repeat containing 59 (LRRC59), mRNA.	255	Poly-Leu.					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CACACCAAATagcagcagcagca	0.606													2	4	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr21:46911183delC	uc002zhi.3	+	20	2673	c.2652delC	c.(2650-2652)ggcfs	p.G884fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G704fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1119	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692													8	89	---	---	---	---					
