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
CEP104	9731	broad.mit.edu	37	1	3761888	3761888	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:3761888C>G	uc001aky.2	-	4	813	c.454G>C	c.(454-456)Gga>Cga	p.G152R	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.G152R	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	152						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCAGGGTCTCCAATGATATTT	0.294												
ABCA4	24	broad.mit.edu	37	1	94466600	94466600	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:94466600C>T	uc001dqh.3	-	45	6448	c.6344G>A	c.(6343-6345)aGc>aAc	p.S2115N		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2115	ABC transporter 2.				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)		TCTGATGATGCTCACGATGAC	0.632												
PPM1J	333926	broad.mit.edu	37	1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	rs113935705	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:113252867C>T	uc001ect.1	-	9	1463	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.R273H	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	479	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622												
TCHH	7062	broad.mit.edu	37	1	152082812	152082812	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152082812G>A	uc009wne.1	-	2	3153	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	TCHH_uc001ezp.2_Missense_Mutation_p.R961W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	961	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ttatccttcCGATATTGCCTT	0.562												
FLG	2312	broad.mit.edu	37	1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152278705C>T	uc001ezu.1	-	2	8693	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2886	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis			
USH2A	7399	broad.mit.edu	37	1	216595382	216595382	+	Silent	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:216595382G>A	uc001hku.1	-	1	684	c.297C>T	c.(295-297)gcC>gcT	p.A99A	USH2A_uc001hkv.3_Silent_p.A99A	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	99					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A99V(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGAGAAAAGGGCAGTGTAGG	0.453										HNSCC(13;0.011)		
COG2	22796	broad.mit.edu	37	1	230798959	230798959	+	Frame_Shift_Del	DEL	A	A	-	rs141422644	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:230798959delA	uc001htw.3	+	3	524	c.373delA	c.(373-375)aaafs	p.K125fs	COG2_uc001htx.3_Frame_Shift_Del_p.K125fs|COG2_uc010pwc.2_5'UTR	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	125					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGACATTAGGAAAAAAAAGGT	0.348												
OR2G2	81470	broad.mit.edu	37	1	247752222	247752222	+	Silent	SNP	C	C	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:247752222C>A	uc010pyy.2	+	0	561	c.561C>A	c.(559-561)ctC>ctA	p.L187L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCTGTGCTCATCAAGCTGG	0.537												
COMMD3-BMI1	648	broad.mit.edu	37	10	22615480	22615480	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr10:22615480T>G	uc009xkg.3	+	5	566	c.531T>G	c.(529-531)tgT>tgG	p.C177W	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.C34W	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	34	Interaction with E4F1.				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										TAATAGAATGTCTACATTCCT	0.413												
WDR11	55717	broad.mit.edu	37	10	122622305	122622305	+	Silent	SNP	A	A	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr10:122622305A>G	uc021pzt.1	+	4	831	c.585A>G	c.(583-585)tcA>tcG	p.S195S	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	195						integral to membrane		p.S195L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGCCTCCCTCAGGCCCTGGGA	0.443												
DUX4L3	653544	broad.mit.edu	37	10	135491112	135491112	+	Silent	SNP	C	C	T	rs141602288	by1000genomes	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr10:135491112C>T	uc021qbj.1	+						DUX4L3_uc010qvh.1_Silent_p.F241F|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GGGTCGCCTTCGCCCACACCG	0.776												
CDON	50937	broad.mit.edu	37	11	125853903	125853903	+	Frame_Shift_Del	DEL	C	C	-	rs139149075		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr11:125853903delC	uc009zbw.3	-	15	2987	c.2859delG	c.(2857-2859)gggfs	p.G953fs	CDON_uc001qdb.4_Frame_Shift_Del_p.G330fs|CDON_uc001qdc.4_Frame_Shift_Del_p.G953fs	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	953					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGGTTGCAGGCCCCACATTTC	0.463												
LRP1	4035	broad.mit.edu	37	12	57603612	57603612	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:57603612T>C	uc001snd.3	+	79	12866	c.12400T>C	c.(12400-12402)Tct>Cct	p.S4134P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4134					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)	GAGCCACGCCTCTGACGTGGT	0.572												
LUM	4060	broad.mit.edu	37	12	91498030	91498030	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:91498030C>T	uc001tbm.3	-	2	1318	c.929G>A	c.(928-930)cGt>cAt	p.R310H		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	310					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R310L(4)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GCCATCCAAACGCAAATGCTT	0.373												
SYNE2	23224	broad.mit.edu	37	14	64497733	64497733	+	Splice_Site	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr14:64497733G>A	uc001xgl.3	+	45	7110	c.6880_splice	c.e45-1	p.E2294_splice	SYNE2_uc001xgm.3_Splice_Site_p.E2294_splice|SYNE2_uc021ruh.1_Splice_Site_p.E2294_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2294					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCACTCGTAGGAACTAGAGA	0.353												
GJD2	57369	broad.mit.edu	37	15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:35045227G>A	uc001zis.1	-	1	418	c.418C>T	c.(418-420)Cga>Tga	p.R140*	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	140					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTATCTTCTCGTTTGCCCCCA	0.532												
ADAMTSL3	57188	broad.mit.edu	37	15	84651232	84651232	+	Missense_Mutation	SNP	G	G	A	rs147113160		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:84651232G>A	uc002bjz.4	+	20	3076	c.2852G>A	c.(2851-2853)cGt>cAt	p.R951H	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R951H	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	951	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGATGGCCGTTGCCTGCAG	0.532												
MCTP2	55784	broad.mit.edu	37	15	94943189	94943189	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:94943189C>T	uc002btj.3	+	14	1995	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	MCTP2_uc010boj.3_Missense_Mutation_p.R373C|MCTP2_uc010bok.3_Missense_Mutation_p.R644C|MCTP2_uc002btk.4_Missense_Mutation_p.R232C|MCTP2_uc002btl.3_Missense_Mutation_p.R232C	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	644					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCGGGAAAAGCGCTTTGTTGA	0.458												
ABCC6	368	broad.mit.edu	37	16	16272807	16272807	+	Missense_Mutation	SNP	C	C	T	rs72653787		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:16272807C>T	uc002den.4	-	17	2300	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	755	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TTCTGGCCTCCGGAGAGATTC	0.627												
C16orf93	90835	broad.mit.edu	37	16	30770347	30770347	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:30770347G>C	uc002dzm.3	-	7	1299	c.803C>G	c.(802-804)cCa>cGa	p.P268R	PHKG2_uc021tgo.1_Intron|PHKG2_uc002dzk.2_3'UTR|C16orf93_uc002dzo.3_Missense_Mutation_p.P231R|C16orf93_uc021tgp.1_Silent_p.T154T|RNF40_uc010caa.3_5'Flank|RNF40_uc002dzq.3_5'Flank|RNF40_uc010cab.3_5'Flank|RNF40_uc010vfa.2_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	Homo sapiens chromosome 16 open reading frame 93 (C16orf93), transcript variant 1, mRNA.	268										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTCTGGCTCTGGTGGGGCCAC	0.537												
MYH10	4628	broad.mit.edu	37	17	8390908	8390908	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:8390908C>A	uc002glm.3	-	35	4985	c.4889G>T	c.(4888-4890)cGg>cTg	p.R1630L	MYH10_uc002gll.3_Missense_Mutation_p.R1599L|MYH10_uc010cnx.3_Missense_Mutation_p.R1608L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1599					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1630K(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCGAGCTCCCGCACCTAATG	0.542												
GLP2R	9340	broad.mit.edu	37	17	9792806	9792806	+	Silent	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:9792806G>A	uc002gmd.1	+	12	1446	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	482					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.L481L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AGAAGCTCTCGGAAGGAGATG	0.597												
KRT35	3886	broad.mit.edu	37	17	39633981	39633981	+	Silent	SNP	A	A	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:39633981A>G	uc002hws.3	-	5	1052	c.1009T>C	c.(1009-1011)Ttg>Ctg	p.L337L		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	337	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GTGGATTCCAAAGCATCTCTC	0.577												
TBC1D3P2	440452	broad.mit.edu	37	17	60345574	60345574	+	Missense_Mutation	SNP	C	C	T	rs74660978		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:60345574C>T	uc002izq.2	-	9	806	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	TBC1D3P2_uc010woz.2_Non-coding_Transcript|DQ574804_uc010wpb.2_5'Flank|DQ573965_uc021ube.1_5'Flank|DQ581615_uc021ubf.1_5'Flank					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AGCCCCTGGACGGTCCCGCCA	0.567												
ENGASE	64772	broad.mit.edu	37	17	77073856	77073856	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:77073856A>G	uc002jwv.3	+	2	334	c.326A>G	c.(325-327)gAg>gGg	p.E109G	ENGASE_uc002jwu.1_Missense_Mutation_p.E109G|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	109						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GTGGCCCTGGAGCCCCTGGCG	0.592												
SLC1A6	6511	broad.mit.edu	37	19	15067457	15067457	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:15067457C>T	uc002naa.1	-	5	1007	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.V270I	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	334					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V334I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCCCCAGGACGGCCATGTCT	0.582												
PTPRH	5794	broad.mit.edu	37	19	55698964	55698964	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:55698964G>A	uc002qjq.3	-	13	2556	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	PTPRH_uc010esv.3_Missense_Mutation_p.S650F|BC034929_uc002qjr.3_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	828	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCCCACCAGGGAGAGTTGCTG	0.587												
DYSF	8291	broad.mit.edu	37	2	71886153	71886153	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:71886153C>G	uc010fen.3	+	43	5042	c.4901C>G	c.(4900-4902)cCc>cGc	p.P1634R	DYSF_uc010fei.3_Missense_Mutation_p.P1612R|DYSF_uc010feh.3_Missense_Mutation_p.P1602R|DYSF_uc002sig.4_Missense_Mutation_p.P1581R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1626R|DYSF_uc010fee.3_Missense_Mutation_p.P1616R|DYSF_uc010fef.3_Missense_Mutation_p.P1633R|DYSF_uc002sie.3_Missense_Mutation_p.P1595R|DYSF_uc010feo.3_Missense_Mutation_p.P1627R|DYSF_uc010fej.3_Missense_Mutation_p.P1603R|DYSF_uc010fel.3_Missense_Mutation_p.P1582R|DYSF_uc010fem.3_Missense_Mutation_p.P1617R|DYSF_uc002sif.3_Missense_Mutation_p.P1596R|DYSF_uc010fek.3_Missense_Mutation_p.P1613R|DYSF_uc010yqy.2_Missense_Mutation_p.P476R|DYSF_uc010yqz.2_Missense_Mutation_p.P356R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1595	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAAGGACCCCAATGGAAAG	0.577												
FAM176A	84141	broad.mit.edu	37	2	75720533	75720533	+	Silent	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:75720533G>A	uc002sni.2	-	3	766	c.288C>T	c.(286-288)tcC>tcT	p.S96S	FAM176A_uc002snj.1_Silent_p.S83S|FAM176A_uc002snk.1_Silent_p.S96S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	96					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		p.S96F(1)		endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GTCTCCGCACGGAGAGATCGG	0.647												
NEB	4703	broad.mit.edu	37	2	152363440	152363440	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:152363440G>T	uc021vrb.1	-	133	18465	c.18436C>A	c.(18436-18438)Cag>Aag	p.Q6146K	NEB_uc002txr.3_Missense_Mutation_p.Q2612K|NEB_uc002txu.3_Missense_Mutation_p.Q7847K|NEB_uc021vrc.1_Missense_Mutation_p.Q7847K|NEB_uc010fnx.3_Missense_Mutation_p.Q6134K|NEB_uc021vrd.1_Missense_Mutation_p.Q6146K|RIF1_uc002txp.3_Intron|NEB_uc010zca.2_5'Flank|NEB_uc010zcb.2_5'UTR|NEB_uc002txt.4_Missense_Mutation_p.Q651K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6146					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATTCTTCTGATTTTCTTTT	0.318												
COL6A3	1293	broad.mit.edu	37	2	238275426	238275426	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:238275426C>T	uc002vwl.2	-	10	5689	c.5404G>A	c.(5404-5406)Gtc>Atc	p.V1802I	COL6A3_uc002vwo.2_Missense_Mutation_p.V1596I|COL6A3_uc010znj.1_Missense_Mutation_p.V1195I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1802	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCTCCTGGACGTTGCCCACG	0.532												
TRAIP	10293	broad.mit.edu	37	3	49869443	49869443	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr3:49869443C>A	uc003cxs.1	-	10	1049	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	TRAIP_uc010hla.1_Missense_Mutation_p.D216Y	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	315	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATTGAGATCAATATCATCA	0.542												
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597												
TLR6	10333	broad.mit.edu	37	4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:38830190G>A	uc010ifg.2	-	1	1026	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_uc003gtm.3_Missense_Mutation_p.T302M	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323												
TNIP3	79931	broad.mit.edu	37	4	122085228	122085228	+	Missense_Mutation	SNP	G	G	A	rs144762502	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:122085228G>A	uc021xrj.1	-	3	363	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TNIP3_uc010ing.3_Missense_Mutation_p.T18M|TNIP3_uc011cgj.2_Missense_Mutation_p.T88M|TNIP3_uc010ini.3_Missense_Mutation_p.T18M	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	18								p.T18M(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTTATGCTCCGTAGAACTTTC	0.398												
HCN1	348980	broad.mit.edu	37	5	45695952	45695952	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:45695952C>T	uc003jok.3	-	0	269	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	82						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.F81I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGGCGTCTTCGAAGCCCCCC	0.711												
ZNF366	167465	broad.mit.edu	37	5	71757119	71757120	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:71757119_71757120CG>AT	uc003kce.1	-	1	390_391	c.204_205CG>AT	c.(202-207)cccggg>ccATgg	p.G69W		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCGAAGACCCCGGGGAACCCAT	0.584												
E2F3	1871	broad.mit.edu	37	6	20402625	20402625	+	Silent	SNP	G	G	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:20402625G>C	uc003nda.2	+	0	489	c.162G>C	c.(160-162)ccG>ccC	p.P54P	E2F3_uc003ncz.2_Silent_p.P54P|E2F3_uc021ymj.1_5'Flank	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	54					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccCCGGGCGCGTACA	0.731												
PRRC2A	7916	broad.mit.edu	37	6	31599728	31599728	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:31599728A>G	uc003nvb.4	+	15	3527	c.3278A>G	c.(3277-3279)gAg>gGg	p.E1093G	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.E1093G	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1093	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GAGGGTTCAGAGTATGAGGAA	0.632												
LAMA2	3908	broad.mit.edu	37	6	129802525	129802525	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:129802525C>G	uc021zfb.1	+	54	7795	c.7690C>G	c.(7690-7692)Ctt>Gtt	p.L2564V	LAMA2_uc003qbn.3_Missense_Mutation_p.L2562V|LAMA2_uc003qbo.3_Missense_Mutation_p.L2558V|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2564	Laminin G-like 3.		L -> P (in MDC1A).		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGCATCATTCTTTTGGGAAG	0.488												
SYNE1	23345	broad.mit.edu	37	6	152861113	152861113	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:152861113G>C	uc021zhb.1	-	1	334	c.111C>G	c.(109-111)atC>atG	p.I37M	SYNE1_uc003qot.4_Missense_Mutation_p.I37M|SYNE1_uc003qou.4_Missense_Mutation_p.I37M|SYNE1_uc010kjb.1_Missense_Mutation_p.I37M|SYNE1_uc003qpa.1_Missense_Mutation_p.I37M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	37	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGAGAGTTGATCCATTTTG	0.338										HNSCC(10;0.0054)		
GRB10	2887	broad.mit.edu	37	7	50674041	50674041	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr7:50674041G>A	uc003tpi.2	-	10	1311	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	GRB10_uc003tph.3_Missense_Mutation_p.T364M|GRB10_uc003tpj.2_Missense_Mutation_p.T376M|GRB10_uc003tpk.2_Missense_Mutation_p.T422M|GRB10_uc010kzb.2_Missense_Mutation_p.T364M|GRB10_uc003tpl.2_Missense_Mutation_p.T416M|GRB10_uc003tpm.2_Missense_Mutation_p.T364M	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	422					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.T422M(2)|p.T416M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TACCACTGGCGTCGAGAACGG	0.517									Russell-Silver syndrome			
DLC1	10395	broad.mit.edu	37	8	12957581	12957581	+	Silent	SNP	C	C	T	rs138749997	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr8:12957581C>T	uc003wwm.2	-	8	2709	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	DLC1_uc003wwk.1_Silent_p.T318T|DLC1_uc003wwl.1_Silent_p.T352T|DLC1_uc011kxx.1_Silent_p.T244T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	755					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGCTGGGCGTGCTGACCG	0.582												
SEMA4D	10507	broad.mit.edu	37	9	92003832	92003832	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:92003832G>T	uc004aqo.1	-	11	1477	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	SEMA4D_uc011ltm.1_Missense_Mutation_p.P302Q|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.P302Q	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	302	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCAGGCCCGGGGACCTGAG	0.602												
ST6GALNAC4	27090	broad.mit.edu	37	9	130670779	130670779	+	Silent	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:130670779C>T	uc004bss.3	-	5	1077	c.801G>A	c.(799-801)gaG>gaA	p.E267E	ST6GALNAC4_uc004bst.3_Silent_p.E183E	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	267					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGGGCGCCTGCTCGTGTGCCA	0.627												
PKN3	29941	broad.mit.edu	37	9	131476566	131476566	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:131476566C>T	uc004bvw.3	+	10	1796	c.1403C>T	c.(1402-1404)cCg>cTg	p.P468L	PKN3_uc010myh.3_Missense_Mutation_p.P468L|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	468	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGCAGCTCCCCGAGCACAATC	0.652												
ARHGAP6	395	broad.mit.edu	37	X	11682473	11682473	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:11682473G>A	uc004cup.1	-	0	1349	c.476C>T	c.(475-477)tCc>tTc	p.S159F	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.S159F	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	159					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCCTCCCCCGGATGAACAGAG	0.657												
MAGEC2	51438	broad.mit.edu	37	X	141291609	141291609	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:141291609G>T	uc022cfj.1	-	0	165	c.165C>A	c.(163-165)ttC>ttA	p.F55L	MAGEC2_uc004fbu.2_Missense_Mutation_p.F55L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	55	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGTGGAGAAAGAAGAGG	0.512										HNSCC(46;0.14)