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
PTCHD2	57540	broad.mit.edu	37	1	11562051	11562051	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:11562051G>A	uc001ash.4	+	1	1140	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S	PTCHD2_uc001asi.1_Silent_p.S334S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	334					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTACTGCTCGCCCCCCAGCT	0.627												
LRRC8B	23507	broad.mit.edu	37	1	90048973	90048973	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:90048973A>G	uc001dni.3	+	6	1271	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	LRRC8B_uc001dnh.3_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.3_Missense_Mutation_p.Y255C	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	255						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACATCATTTATAGAGTATAT	0.383												
GPR61	83873	broad.mit.edu	37	1	110086040	110086040	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:110086040G>A	uc021orh.1	+	0	396	c.396G>A	c.(394-396)tcG>tcA	p.S132S	GPR61_uc001dxy.2_Silent_p.S132S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCATCCTCTCGGTGTCAGCCA	0.607												
TTF2	8458	broad.mit.edu	37	1	117618058	117618058	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:117618058G>A	uc001egy.3	+	4	872	c.852G>A	c.(850-852)gaG>gaA	p.E284E	TTF2_uc001egx.1_Silent_p.E284E	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	284					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAACAAGGAGTACACGAACT	0.522												
FLG	2312	broad.mit.edu	37	1	152283519	152283519	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:152283519G>A	uc001ezu.1	-	2	3879	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1281	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)			TCTCGGAGTCGTCTGAGTGTC	0.552									Ichthyosis			
HMCN1	83872	broad.mit.edu	37	1	186050515	186050515	+	Nonsense_Mutation	SNP	C	C	T	rs142475663		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186050515C>T	uc001grq.1	+	55	9005	c.8776C>T	c.(8776-8778)Cga>Tga	p.R2926*	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2926	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R2926Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTAATGGACGAATTCTGCA	0.338												
HMCN1	83872	broad.mit.edu	37	1	186083185	186083185	+	Missense_Mutation	SNP	G	G	A	rs138190200	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186083185G>A	uc001grq.1	+	72	11435	c.11206G>A	c.(11206-11208)Gct>Act	p.A3736T	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3736	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.A3736T(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAATGCATCGCTGAAGGTGT	0.408												
NUAK2	81788	broad.mit.edu	37	1	205280831	205280831	+	Splice_Site	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:205280831A>G	uc001hce.3	-	2	479	c.352_splice	c.e2+1	p.V118_splice	NUAK2_uc009xbj.1_5'Flank	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	118	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCCCACTGTACCTTCATGGA	0.438												
TRAF3IP3	80342	broad.mit.edu	37	1	209954760	209954760	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:209954760A>T	uc001hho.3	+	15	1940	c.1520A>T	c.(1519-1521)cAc>cTc	p.H507L	TRAF3IP3_uc001hhn.3_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.H507L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	507						integral to membrane	protein binding	p.R506*(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGCTGCAGCACTGTCGAGAA	0.512												
AS3MT	57412	broad.mit.edu	37	10	104638210	104638210	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr10:104638210C>T	uc001kwj.3	+	11	1090	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	AS3MT_uc009xxh.3_Missense_Mutation_p.R229C|AS3MT_uc001kwk.3_Missense_Mutation_p.R229C	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	229					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTGCCCTCCACGTTTGGTCAC	0.408												
OR52I1	390037	broad.mit.edu	37	11	4616048	4616048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:4616048delG	uc010qyi.2	+	0	780	c.780delG	c.(778-780)atgfs	p.M260fs		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACCTGGGATGGCATCCATCT	0.507												
OR5D18	219438	broad.mit.edu	37	11	55587445	55587445	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:55587445T>A	uc010rin.2	+	0	340	c.340T>A	c.(340-342)Ttt>Att	p.F114I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S113F(1)|p.F114F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACTGAATCCTTTTTATTAGC	0.433												
ACRV1	56	broad.mit.edu	37	11	125542539	125542539	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:125542539C>T	uc001qcs.3	-	3	865	c.747G>A	c.(745-747)acG>acA	p.T249T	CHEK1_uc001qcf.4_Intron|ACRV1_uc001qcl.3_Silent_p.T179T|ACRV1_uc001qcn.3_Silent_p.T194T|ACRV1_uc001qcr.3_Silent_p.T230T	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	249					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TTTGCATCCTCGTTCCATGGG	0.448												
ADAMTS20	80070	broad.mit.edu	37	12	43833726	43833726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:43833726G>A	uc010skx.2	-	16	2437	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	813	Spacer.					proteinaceous extracellular matrix	zinc ion binding	p.R813*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTCTTGTCGATTAGTACTA	0.299												
H1FNT	341567	broad.mit.edu	37	12	48723149	48723149	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:48723149G>A	uc001rrm.3	+	0	387	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	25					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TGGCTGAGGCGCCTGGGCCCA	0.657												
B4GALNT1	2583	broad.mit.edu	37	12	58022670	58022670	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:58022670G>A	uc001spg.1	-	7	1260	c.828C>T	c.(826-828)agC>agT	p.S276S	B4GALNT1_uc010sru.2_Silent_p.S221S|B4GALNT1_uc010srv.2_Silent_p.S243S	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	276					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACTAGAGCGCTGATGTTGT	0.577												
PTPN11	5781	broad.mit.edu	37	12	112926910	112926910	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:112926910G>C	uc001ttx.3	+	12	1910	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	514	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).|Q -> R (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.Q510K(2)|p.Q510H(1)|p.Q510L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAAGCACAGTACCGATTTA	0.493			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome			
C12orf52	84934	broad.mit.edu	37	12	113629392	113629392	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:113629392C>T	uc001tur.1	+	3	1048	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	194	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCACGCCCCCTGAAGCGGGG	0.607												
DNAH10	196385	broad.mit.edu	37	12	124393905	124393905	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:124393905G>A	uc001uft.4	+	56	9584	c.9559G>A	c.(9559-9561)Gtg>Atg	p.V3187M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCCAAGGGCGTGATGTCCGA	0.502												
GPR133	283383	broad.mit.edu	37	12	131475583	131475583	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:131475583C>T	uc010tbm.2	+	7	1425	c.866C>T	c.(865-867)aCg>aTg	p.T289M	GPR133_uc001uit.4_Missense_Mutation_p.T257M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	257					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTGTCTTCAACGCTGCCAAGC	0.478												
MDGA2	161357	broad.mit.edu	37	14	47389235	47389235	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:47389235A>G	uc001wwj.4	-	9	2376	c.2218T>C	c.(2218-2220)Tac>Cac	p.Y740H	MDGA2_uc001wwi.4_Missense_Mutation_p.Y442H|MDGA2_uc010ani.3_Missense_Mutation_p.Y231H	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	671					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAACCGGTATGCAACAATC	0.423												
SYNE2	23224	broad.mit.edu	37	14	64686074	64686074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:64686074G>A	uc001xgl.3	+	109	20036	c.19806G>A	c.(19804-19806)atG>atA	p.M6602I	SYNE2_uc001xgm.3_Missense_Mutation_p.M6579I|SYNE2_uc010apy.3_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.3_Missense_Mutation_p.M1541I|SYNE2_uc021rui.1_Missense_Mutation_p.M1540I|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.M549I|SYNE2_uc001xgq.3_Missense_Mutation_p.M944I|SYNE2_uc001xgr.3_Missense_Mutation_p.M362I|SYNE2_uc010tsi.2_Missense_Mutation_p.M236I|SYNE2_uc001xgs.3_Missense_Mutation_p.M236I|SYNE2_uc001xgt.3_Missense_Mutation_p.M110I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6579					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)		TGTTAAAGATGGCAAAGCCTC	0.433												
LTBP2	4053	broad.mit.edu	37	14	75078500	75078500	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:75078500C>T	uc001xqa.3	-	0	535	c.148G>A	c.(148-150)Gcg>Acg	p.A50T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCGATTCGCGTCTCCACCA	0.692												
AK7	122481	broad.mit.edu	37	14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:96875256C>T	uc001yfn.2	+	3	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	159					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473												
PACS2	23241	broad.mit.edu	37	14	105859121	105859121	+	Silent	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:105859121C>G	uc001yqu.3	+	22	2925	c.2421C>G	c.(2419-2421)ggC>ggG	p.G807G	PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqt.3_Silent_p.G792G|PACS2_uc001yqv.3_Silent_p.G796G	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	792					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCAGCAGCGGCGAGGCTGCAG	0.612												
TRPM1	4308	broad.mit.edu	37	15	31295059	31295059	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr15:31295059G>A	uc021sia.1	-	26	4209	c.3895C>T	c.(3895-3897)Cgg>Tgg	p.R1299W	TRPM1_uc010azy.3_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1282W|TRPM1_uc001zfm.3_Missense_Mutation_p.R1260W	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1260					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.R1260W(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGCTTTGCCGGAGAAGATAC	0.473												
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	Missense_Mutation	SNP	C	C	G	rs61084368		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr15:102292785C>G	uc010usj.2	+	3	432	c.373C>G	c.(373-375)Cag>Gag	p.Q125E	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602												
FBXL16	146330	broad.mit.edu	37	16	745854	745854	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:745854C>T	uc021taa.1	-	2	1031	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_Missense_Mutation_p.G23R	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	235										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GACCACAGCCCGGCCTCGGTG	0.672												
CHTF18	63922	broad.mit.edu	37	16	839297	839297	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:839297C>G	uc002ckf.4	+	1	521	c.458C>G	c.(457-459)tCc>tGc	p.S153C	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S125C|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.S125C|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_Intron	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	125					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTCCCGACTCCTCGCCGACG	0.662												
GP2	2813	broad.mit.edu	37	16	20328646	20328646	+	Silent	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:20328646G>T	uc002dgv.3	-	8	1397	c.1314C>A	c.(1312-1314)tcC>tcA	p.S438S	GP2_uc002dgw.3_Silent_p.S435S|GP2_uc002dgx.3_Silent_p.S291S|GP2_uc002dgy.3_Silent_p.S288S	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	438	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCTTTCCGAGGACTGCCCAT	0.468												
DNAH3	55567	broad.mit.edu	37	16	21053361	21053361	+	Silent	SNP	G	G	A	rs150869091	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:21053361G>A	uc010vbe.2	-	31	4626	c.4626C>T	c.(4624-4626)ccC>ccT	p.P1542P		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1542	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAGATTGTCGGGCAGTTCAG	0.512												
ZNF423	23090	broad.mit.edu	37	16	49671646	49671646	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:49671646G>C	uc002efs.3	-	4	1715	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	ZNF423_uc010vgn.2_Missense_Mutation_p.Q356E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	473					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGCCAAACTGCATCACAGGG	0.577												
OR1D2	4991	broad.mit.edu	37	17	2995386	2995386	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:2995386C>A	uc010vrb.2	-	0	905	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	302					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCTAGGAGTCTTCCCAGAGC	0.463												
NF1	4763	broad.mit.edu	37	17	29508439	29508439	+	Splice_Site	SNP	G	G	A	rs66734387		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:29508439G>A	uc002hgg.3	+	6	970	c.587_splice	c.e6-1	p.E196_splice	NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	196					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTTCCAGAAACAGCATT	0.299			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
WNT9B	7484	broad.mit.edu	37	17	44949992	44949992	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:44949992C>T	uc002ikw.1	+	1	224	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	63					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTGTCCCGGCGGCAGAAGCA	0.682												
IGF2BP1	10642	broad.mit.edu	37	17	47118832	47118832	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:47118832A>C	uc002iom.3	+	7	1245	c.911A>C	c.(910-912)cAa>cCa	p.Q304P	IGF2BP1_uc010dbj.3_Missense_Mutation_p.Q165P	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	304	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGTAGAGCAAGATACCGAG	0.498												
SDK2	54549	broad.mit.edu	37	17	71418469	71418469	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:71418469C>T	uc010dfm.3	-	14	2002	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	SDK2_uc010dfn.2_Missense_Mutation_p.V347I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	668	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACGTCGTTGACGGCACAAAGA	0.617												
LAMA1	284217	broad.mit.edu	37	18	6999962	6999962	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:6999962C>T	uc002knm.3	-	30	4511	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N	LAMA1_uc010wzj.2_Missense_Mutation_p.D949N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1473	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACGGAAATCGTGGTCCCCT	0.423												
RIOK3	8780	broad.mit.edu	37	18	21043044	21043044	+	Splice_Site	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:21043044G>A	uc002kui.4	+	2	796	c.179_splice	c.e2+1	p.A60_splice	RIOK3_uc010dls.3_Splice_Site_p.A60_splice|RIOK3_uc010xas.2_Splice_Site_p.A60_splice	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	60					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGAAGTTGCGTAAGTAAAAT	0.363												
DOCK6	57572	broad.mit.edu	37	19	11353971	11353971	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:11353971C>T	uc002mqs.4	-	11	1390	c.1349G>A	c.(1348-1350)cGt>cAt	p.R450H		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	450					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R450C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGTGGCTGGACGGAAGCCAGA	0.677											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
OR7A10	390892	broad.mit.edu	37	19	14952342	14952342	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:14952342G>A	uc002mzx.1	-	0	348	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGCCATCACGGTCAGAAGGA	0.483												
FCGBP	8857	broad.mit.edu	37	19	40364217	40364217	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:40364217G>A	uc002omp.4	-	30	14433	c.14425C>T	c.(14425-14427)Ccg>Tcg	p.P4809S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4809						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGGGCCCGGGTAGAAGACC	0.657												
EML2	24139	broad.mit.edu	37	19	46112931	46112931	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:46112931C>T	uc010xxm.2	-	21	2616	c.2543G>A	c.(2542-2544)cGg>cAg	p.R848Q	EML2_uc002pcn.3_Missense_Mutation_p.R647Q|EML2_uc002pcp.3_Missense_Mutation_p.R531Q|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R794Q	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	647					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCAGACCACCCGCCACTGTAG	0.537												
ELSPBP1	64100	broad.mit.edu	37	19	48525436	48525436	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:48525436C>T	uc002pht.3	+	5	702	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	175					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGAATTTCCGCGTTGGTCCCT	0.453												
LPIN1	23175	broad.mit.edu	37	2	11943091	11943091	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:11943091G>A	uc010yjm.2	+	15	2145	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	LPIN1_uc010yjn.2_Missense_Mutation_p.A613T|LPIN1_uc002rbt.3_Missense_Mutation_p.A613T|LPIN1_uc010yjo.2_Missense_Mutation_p.A114T	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	613	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCATCAAACGCAGGCCACCT	0.532												
IL1RL1	9173	broad.mit.edu	37	2	102959595	102959595	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:102959595T>C	uc002tbu.1	+	6	1053	c.782T>C	c.(781-783)tTt>tCt	p.F261S	IL1RL1_uc010ywa.2_Missense_Mutation_p.F144S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.F261S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	261	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTACAGACTTTGGTGAACCA	0.423												
LRP2	4036	broad.mit.edu	37	2	170066149	170066149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:170066149G>A	uc002ues.3	-	37	6496	c.6283C>T	c.(6283-6285)Cga>Tga	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2095					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGCGTTTCGTCCTGGAAGT	0.418												
DNAH7	56171	broad.mit.edu	37	2	196765215	196765215	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:196765215G>C	uc002utj.4	-	27	4440	c.4339C>G	c.(4339-4341)Ctc>Gtc	p.L1447V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1447	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L1447L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCGAAAGAGAGCCTATGGG	0.418												
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201478598C>T	uc002uvx.3	+	14	1621	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507V(2)|p.A507A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473												
FAM126B	285172	broad.mit.edu	37	2	201881771	201881771	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201881771G>A	uc002uws.4	-	4	464	c.276C>T	c.(274-276)agC>agT	p.S92S	FAM126B_uc002uwu.3_Silent_p.S10S|FAM126B_uc002uwv.3_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	92						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTCTGTCTCGGCTAACTGTAA	0.388												
TRPM8	79054	broad.mit.edu	37	2	234835206	234835206	+	Silent	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:234835206C>A	uc002vvh.3	+	1	64	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	8						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGCCAGGCTCAGCATGAGGA	0.522												
PROKR2	128674	broad.mit.edu	37	20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:5282952C>T	uc010zqw.2	-	1	897	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	297						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)		
SYCP2	10388	broad.mit.edu	37	20	58489299	58489299	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:58489299G>T	uc002yaz.3	-	9	781	c.642C>A	c.(640-642)gaC>gaA	p.D214E	SYCP2_uc010gju.1_Missense_Mutation_p.D115E	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	214					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTACCTGTAAGTCATAATCTA	0.289												
ARFGAP1	55738	broad.mit.edu	37	20	61907550	61907550	+	Silent	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:61907550C>A	uc002yem.3	+	2	280	c.168C>A	c.(166-168)ctC>ctA	p.L56L	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.3_Silent_p.L56L|ARFGAP1_uc002yen.3_Silent_p.L56L	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	56	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGTTCACCTCAGGTCAGTGT	0.642												
OR5H2	79310	broad.mit.edu	37	3	98001924	98001924	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98001924T>A	uc003dsj.1	+	0	193	c.193T>A	c.(193-195)Tac>Aac	p.Y65N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CATCCCCATGTACTTTTTTCT	0.408												
OR5H2	79310	broad.mit.edu	37	3	98002428	98002428	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98002428A>C	uc003dsj.1	+	0	697	c.697A>C	c.(697-699)Aag>Cag	p.K233Q		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCCTAAAAAAGAAGTCTGT	0.363												
SLCO2A1	6578	broad.mit.edu	37	3	133692615	133692615	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:133692615G>A	uc003eqa.4	-	2	563	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	SLCO2A1_uc011blv.2_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	97					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.R97H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGACGTGGACGGTGCACCCGG	0.572												
U2SURP	23350	broad.mit.edu	37	3	142735741	142735741	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:142735741C>T	uc003evh.1	+	5	593	c.494C>T	c.(493-495)gCa>gTa	p.A165V	U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.A165V|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.A165V	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	165					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCAAGATTTGCAGATCAAAAA	0.303												
BCHE	590	broad.mit.edu	37	3	165548715	165548715	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:165548715G>T	uc003fem.4	-	1	267	c.107C>A	c.(106-108)aCa>aAa	p.T36K	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	36					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCATTCTTTGTTGCAATTAT	0.408												
GHSR	2693	broad.mit.edu	37	3	172165593	172165593	+	Missense_Mutation	SNP	G	G	A	rs121917883		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:172165593G>A	uc003fib.2	-	0	654	c.611C>T	c.(610-612)gCg>gTg	p.A204V	GHSR_uc011bpv.2_Missense_Mutation_p.A204V	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	204			A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin).		actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGAGCGCACCGCAAACTCGGT	0.622												
CCDC158	339965	broad.mit.edu	37	4	77288530	77288530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:77288530G>A	uc003hkb.4	-	10	1900	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCAGCAGTTCGTCCATGCTGG	0.453												
SEC31A	22872	broad.mit.edu	37	4	83799939	83799939	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:83799939C>T	uc003hnh.3	-	3	526	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	SEC31A_uc011ccl.2_Missense_Mutation_p.A116T|SEC31A_uc003hnl.3_Missense_Mutation_p.A116T|SEC31A_uc003hng.3_Missense_Mutation_p.A116T|SEC31A_uc011ccm.2_Missense_Mutation_p.A111T|SEC31A_uc003hni.3_Missense_Mutation_p.A116T|SEC31A_uc003hnk.3_Missense_Mutation_p.A116T|SEC31A_uc003hnf.3_Missense_Mutation_p.A116T|SEC31A_uc011ccn.2_Missense_Mutation_p.A116T|SEC31A_uc003hnm.3_Missense_Mutation_p.A116T|SEC31A_uc003hnn.2_Missense_Mutation_p.A116T|SEC31A_uc003hno.3_Missense_Mutation_p.A116T	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	116					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCATTCTGGGCAATCACAACT	0.398												
PCDH18	54510	broad.mit.edu	37	4	138451923	138451923	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:138451923C>T	uc003ihe.4	-	0	1707	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	PCDH18_uc003ihf.4_Silent_p.R433R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R220R|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	440	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGTGTCCCCCTGTCCTCAG	0.373												
MYO10	4651	broad.mit.edu	37	5	16668507	16668507	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:16668507C>T	uc003jft.4	-	39	6422	c.5954G>A	c.(5953-5955)cGt>cAt	p.R1985H	MYO10_uc011cnb.2_Missense_Mutation_p.R614H|MYO10_uc011cnc.2_Missense_Mutation_p.R864H|MYO10_uc011cnd.2_Missense_Mutation_p.R1342H|MYO10_uc011cne.2_Missense_Mutation_p.R1342H|MYO10_uc010itx.3_Missense_Mutation_p.R1607H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1985	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCCTCTCCACGCTTGTAGAC	0.547												
CDH9	1007	broad.mit.edu	37	5	26885965	26885965	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:26885965G>A	uc003jgs.1	-	10	1809	c.1640C>T	c.(1639-1641)gCa>gTa	p.A547V	CDH9_uc011cnv.1_Missense_Mutation_p.A140V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	547	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATGATTCCTGCTGTATTATC	0.318												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889605	139889605	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:139889605G>A	uc003lfs.2	+	22	4096	c.3942_splice	c.e22-1	p.R1314_splice	ANKHD1-EIF4EBP3_uc003lfq.2_Splice_Site_p.R1333_splice|ANKHD1-EIF4EBP3_uc003lfr.3_Splice_Site_p.R1314_splice|ANKHD1-EIF4EBP3_uc003lft.1_Splice_Site_p.R525_splice|ANKHD1-EIF4EBP3_uc003lfu.1_Splice_Site_p.R794_splice|ANKHD1-EIF4EBP3_uc003lfv.1_Splice_Site_p.R391_splice|ANKHD1-EIF4EBP3_uc011czh.1_Splice_Site_p.R53_splice|ANKHD1-EIF4EBP3_uc003lfw.3_Splice_Site	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1314						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACAGGGGAGCCCACAT	0.393												
PCDHAC2	56144	broad.mit.edu	37	5	140188686	140188686	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140188686C>T	uc003lhi.2	+	0	2015	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677												
PCDHGC5	56102	broad.mit.edu	37	5	140751537	140751537	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140751537C>T	uc003ljw.2	+	0	1576	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R526C|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	528	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCAGCTGCGTGCCTTCGA	0.692												
CAMK2A	815	broad.mit.edu	37	5	149602771	149602771	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:149602771C>T	uc003lru.2	-	16	1429	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q	CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	405					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCTGTTCCGGGACCACAC	0.612												
LARP1	23367	broad.mit.edu	37	5	154188110	154188110	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188110G>A	uc003lvo.3	+	15	2583	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K	LARP1_uc021ygh.1_Silent_p.K725K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	930							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAACAAAAAGATGTATGAGG	0.532												
LARP1	23367	broad.mit.edu	37	5	154188112	154188112	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188112T>A	uc003lvo.3	+	15	2585	c.2561T>A	c.(2560-2562)aTg>aAg	p.M854K	LARP1_uc021ygh.1_Missense_Mutation_p.M726K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	931							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACAAAAAGATGTATGAGGAG	0.532												
GABRA6	2559	broad.mit.edu	37	5	161116737	161116737	+	Missense_Mutation	SNP	G	G	T	rs145469537		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:161116737G>T	uc003lyu.2	+	5	963	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	209					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.D209N(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCCAGTATGATCTGATTGG	0.378										TCGA Ovarian(5;0.080)		
ENPP5	59084	broad.mit.edu	37	6	46135819	46135819	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:46135819C>T	uc003oxz.1	-	1	389	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	ENPP5_uc010jzc.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.V61M	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	61						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACTTGCTTCACGTGAACACCA	0.348												
LGSN	51557	broad.mit.edu	37	6	63991054	63991054	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:63991054T>A	uc003peh.3	-	3	436	c.402A>T	c.(400-402)gaA>gaT	p.E134D	LGSN_uc003pei.3_Missense_Mutation_p.E134D	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	134					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGTTATTCATTTCATTGTCCT	0.393												
EPHA7	2045	broad.mit.edu	37	6	93956625	93956625	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:93956625C>G	uc003poe.3	-	14	2852	c.2611G>C	c.(2611-2613)Gat>Cat	p.D871H	EPHA7_uc003pof.3_Missense_Mutation_p.D866H|EPHA7_uc011eac.2_Missense_Mutation_p.D867H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	871	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCCAACAATCCAACATTAGC	0.418												
MAN1A1	4121	broad.mit.edu	37	6	119669897	119669897	+	Missense_Mutation	SNP	C	C	G	rs139302645		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:119669897C>G	uc003pym.1	-	1	776	c.334G>C	c.(334-336)Gac>Cac	p.D112H	MAN1A1_uc010kei.2_Missense_Mutation_p.D112H	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	112					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCCTCCGGGTCCCCGGGTGCC	0.761												
MED23	9439	broad.mit.edu	37	6	131929144	131929144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:131929144delC	uc003qcs.1	-	11	1319	c.1145delG	c.(1144-1146)ggafs	p.G382fs	MED23_uc003qcq.3_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	382					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGAATACTTCCAGAAATGAA	0.378												
ECT2L	345930	broad.mit.edu	37	6	139183819	139183819	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:139183819G>A	uc003qif.2	+	10	1579	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	ECT2L_uc021zfx.1_Silent_p.T418T|ECT2L_uc011edq.1_Silent_p.T349T	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	418					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCTTTACGGCCCCCACTG	0.463			"""N, Splice, Mis"""		ETP ALL							
MAP3K4	4216	broad.mit.edu	37	6	161470034	161470034	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:161470034A>G	uc003qtn.3	+	2	872	c.730A>G	c.(730-732)Agg>Ggg	p.R244G	MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.3_Missense_Mutation_p.R244G|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	244					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAAAAGACAGGGAGCAAAG	0.433												
NPC1L1	29881	broad.mit.edu	37	7	44579249	44579249	+	Silent	SNP	G	G	A	rs148698796		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:44579249G>A	uc003tlb.3	-	1	803	c.747C>T	c.(745-747)gaC>gaT	p.D249D	NPC1L1_uc011kbw.2_Silent_p.D249D|NPC1L1_uc003tlc.3_Silent_p.D249D|NPC1L1_uc003tld.3_Silent_p.D249D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	249					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCGCCACGTCGTCACCTTGGG	0.632												
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CACNA2D1	781	broad.mit.edu	37	7	81598223	81598223	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:81598223C>T	uc003uhr.1	-	28	2631	c.2375G>A	c.(2374-2376)gGg>gAg	p.G792E	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	804						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAGAAGTTTCCCTTGAATATA	0.284												
CHMP4C	92421	broad.mit.edu	37	8	82644913	82644913	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:82644913G>A	uc003ycl.3	+	0	226	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	18	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TAAGAGCCGAGCCGCTCCCAG	0.587												
WDYHV1	55093	broad.mit.edu	37	8	124453566	124453566	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:124453566G>A	uc003yqn.1	+	5	654	c.529G>A	c.(529-531)Gat>Aat	p.D177N	WDYHV1_uc011lij.1_Missense_Mutation_p.D117N	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	177					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.N176S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GAACCTGAACGATTTCATCAG	0.373												
SLC45A4	57210	broad.mit.edu	37	8	142228261	142228261	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:142228261G>A	uc003ywd.1	-	3	1633	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	493					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGCGCACCGTGGTCTCGCC	0.682												
RHPN1	114822	broad.mit.edu	37	8	144462083	144462083	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:144462083G>A	uc003yyb.3	+	8	1163	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	344	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GACTGCCCTGGTGCATGTCAA	0.657												
TAF1L	138474	broad.mit.edu	37	9	32633610	32633610	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:32633610T>A	uc003zrg.1	-	0	2058	c.1968A>T	c.(1966-1968)caA>caT	p.Q656H	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	656					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTAGCAAAGGTTGGACTGAAT	0.502												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899196	112899196	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:112899196C>T	uc004bei.2	+	8	2260	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R227C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	227							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGAGCTCATCCGCAGCCAGGC	0.512												
PMPCA	23203	broad.mit.edu	37	9	139306464	139306464	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:139306464G>A	uc004chl.3	+	1	92	c.87G>A	c.(85-87)gcG>gcA	p.A29A	SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	29					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GACCTCCTGCGTACAGACGGT	0.493												
KLHL13	90293	broad.mit.edu	37	X	117043736	117043736	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chrX:117043736C>T	uc011mtp.2	-	5	1036	c.903G>A	c.(901-903)acG>acA	p.T301T	KLHL13_uc004eqk.3_Silent_p.T247T|KLHL13_uc004eql.3_Silent_p.T298T|KLHL13_uc011mtn.2_Silent_p.T138T|KLHL13_uc011mto.2_Silent_p.T292T|KLHL13_uc011mtq.2_Silent_p.T282T|KLHL13_uc004eqm.3_Silent_p.T256T|KLHL13_uc022cde.1_Silent_p.T282T	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	298					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGAAATCCACCGTTTGCACGT	0.423												
