Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ARHGAP22	58504	broad.mit.edu	37	10	49658867	49658867	+	Silent	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr10:49658867C>T	ENST00000249601.4	-	9	1601	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	ARHGAP22_ENST00000374172.1_Silent_p.P326P|ARHGAP22_ENST00000417912.2_Silent_p.P451P|ARHGAP22_ENST00000477708.2_Silent_p.P268P|ARHGAP22_ENST00000435790.2_Silent_p.P441P|ARHGAP22_ENST00000417247.2_Silent_p.P345P|ARHGAP22_ENST00000374170.1_Silent_p.P276P	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	435	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATAGGGACCTCGGCTGCCGGA	0.682000													8	5					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	167					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561885	179561885	+	Silent	SNP	C	C	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:179561885C>G	ENST00000444136.1	+	2	385	c.135C>G	c.(133-135)ctC>ctG	p.L45L	TDRD5_ENST00000294848.8_Silent_p.L45L|TDRD5_ENST00000367614.1_Silent_p.L45L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	45	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCTACCACTCCGAATCCTTG	0.488000													25	85					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976918	29976918	+	RNA	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:29976918G>A	ENST00000376797.3	-	0	761				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							TTTTCTTCCCGCAGATAGAAA	0.522000													4	96					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													4	12					0	0	1	0	0
EIF1B	10289	broad.mit.edu	37	3	40353003	40353003	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr3:40353003G>A	ENST00000232905.3	+	3	496	c.238G>A	c.(238-240)Gga>Aga	p.G80R		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	80					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TCCTGAATACGGAGAGGTTAT	0.368000													30	60					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266603	124266603	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:124266603G>A	ENST00000354597.3	-	1	661	c.645C>T	c.(643-645)ctC>ctT	p.L215L		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CATAAGAAATGAGGATGGTAC	0.428000													47	92					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	51					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409427	105409427	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr14:105409427G>A	ENST00000333244.5	-	7	12480	c.12361C>T	c.(12361-12363)Ctg>Ttg	p.L4121L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4121						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTCGGCCAGGGACAGGTCC	0.587000													6	506					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61430323	61430323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:61430323G>A	ENST00000398571.2	-	75	9536	c.9460C>T	c.(9460-9462)Cga>Tga	p.R3154*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3154					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTGCAACTCGGCATAATAGA	0.343000													4	49					0	0	1	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	10					0.150653	0.152636	1	1	0
GJA5	2702	broad.mit.edu	37	1	147230622	147230622	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:147230622C>T	ENST00000271348.2	-	2	886	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	GJA5_ENST00000369237.1_Missense_Mutation_p.R242Q	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	242					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R242Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CATGTGCTGCCGCGGTTTGAC	0.572000													24	48					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64905078	64905078	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr5:64905078A>C	ENST00000231524.9	-	6	1407	c.1036T>G	c.(1036-1038)Ttg>Gtg	p.L346V	TRIM23_ENST00000381018.3_Missense_Mutation_p.L346V|TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000274327.7_Missense_Mutation_p.L346V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	346					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACCTGCTGCAAAGTCTTTTCA	0.363000													26	37					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18959756	18959756	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chrX:18959756G>T	ENST00000379942.4	-	8	1420	c.755C>A	c.(754-756)tCt>tAt	p.S252Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	252					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AATTTCTTTAGATGTCGACGC	0.408000													46	17					8.20599e-20	9.15741e-20	1	1	0
DHX33	56919	broad.mit.edu	37	17	5357225	5357225	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:5357225C>T	ENST00000225296.3	-	7	1423	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	DHX33_ENST00000433302.3_Missense_Mutation_p.R184K	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	408	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGTCCTCTCTGCCAGCCCT	0.567000													35	59					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65332658	65332658	+	Missense_Mutation	SNP	G	G	A	rs66939581		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:65332658G>A	ENST00000342505.4	-	7	1129	c.881C>T	c.(880-882)tCa>tTa	p.S294L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	294	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		ATTTTCTGATGAAATCAGTAA	0.418000			Mis		ALL								45	89					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19967759	19967759	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr22:19967759G>A	ENST00000263207.3	-	6	1194	c.903C>T	c.(901-903)taC>taT	p.Y301Y	ARVCF_ENST00000406522.1_Silent_p.Y238Y|ARVCF_ENST00000344269.3_Silent_p.Y238Y|ARVCF_ENST00000401994.1_Silent_p.Y238Y|ARVCF_ENST00000406259.1_Silent_p.Y301Y	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	301					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CTGTGTCCTCGTAGGCCCTGC	0.667000													14	34					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411307	5411307	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:5411307G>A	ENST00000328611.3	+	1	701	c.679G>A	c.(679-681)Gca>Aca	p.A227T	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	227						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTCATCGCACTGTCCTA	0.542000													34	51					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100937	139100937	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:139100937G>A	ENST00000358701.5	-	12	1771	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	578					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTCCTTCACTGGAATCCCCCT	0.597000													24	75					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													7	103					0	0	1	0	0
C9orf139	401563	broad.mit.edu	37	9	139929153	139929153	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:139929153G>A	ENST00000314330.2	+	3	1734	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	74										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		ACGCCTGCGGGTGACCCGGCC	0.647000													4	153					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144894993	144894993	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr8:144894993C>T	ENST00000356994.2	-	8	787	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	SCRIB_ENST00000320476.3_Missense_Mutation_p.G261S|SCRIB_ENST00000377533.3_Missense_Mutation_p.G180S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	261	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TAACCGATGCCGTCGGGCAGC	0.692000													4	92					0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40775613	40775613	+	Silent	SNP	G	G	A	rs140305893		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:40775613G>A	ENST00000372748.3	-	16	939	c.843C>T	c.(841-843)gaC>gaT	p.D281D		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	281	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX		p.D281D(2)|p.D281E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GACTCACCTCGTCACCCTTCT	0.612000													5	180					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30036995	30036995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:30036995C>A	ENST00000564806.1	-	3	487	c.442G>T	c.(442-444)Gga>Tga	p.G148*	FAM57B_ENST00000380495.4_Intron|FAM57B_ENST00000279389.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AAGGTCCCTCCCCTTCCTGTG	0.612000													4	190					1	1	1	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	66					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2690928	2690928	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr12:2690928G>T	ENST00000399655.1	+	14	2333	c.2068G>T	c.(2068-2070)Gat>Tat	p.D690Y	CACNA1C_ENST00000399603.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D715Y|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D690Y|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D690Y|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D690Y	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	690					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.D690H(3)|p.D720H(1)|p.D225H(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GAGCACATTCGATAACTTCCC	0.542000													13	27					0.000219431	0.000228327	1	1	0
TFAP2C	7022	broad.mit.edu	37	20	55206371	55206371	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:55206371A>T	ENST00000201031.2	+	2	402	c.159A>T	c.(157-159)gaA>gaT	p.E53D	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	53	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAGTCGCCGAATATCAGCCGC	0.687000													22	69					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86262331	86262331	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr15:86262331A>G	ENST00000394518.2	+	23	6121	c.6026A>G	c.(6025-6027)cAt>cGt	p.H2009R	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.H2013R|AKAP13_ENST00000394510.2_Missense_Mutation_p.H254R	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2009	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGTTTCATCATGTCCGCACT	0.458000													28	51					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33395107	33395107	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:33395107A>G	ENST00000539936.1	-	3	351	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587000													4	94					0	0	1	0	0
CLN8	2055	broad.mit.edu	37	8	1719543	1719543	+	Missense_Mutation	SNP	C	C	T	rs143701028		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr8:1719543C>T	ENST00000331222.4	+	2	570	c.323C>T	c.(322-324)aCg>aTg	p.T108M		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	108	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTTCACATCACGACAGCAACG	0.537000													34	104					0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40257895	40257895	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr22:40257895A>G	ENST00000325157.6	-	3	717	c.467T>C	c.(466-468)tTg>tCg	p.L156S		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	156										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTTAGAAAACAATATAGAGTG	0.443000													12	32					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922495	37922495	+	Missense_Mutation	SNP	C	C	T	rs144257869		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:37922495C>T	ENST00000346872.3	-	8	1139	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	IKZF3_ENST00000583368.1_Missense_Mutation_p.E113K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E139K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E321K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E282K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E273K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E321K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E326K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E178K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E304K|IKZF3_ENST00000439016.2_Missense_Mutation_p.E265K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E226K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E217K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E287K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	360					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTTTCTTTTCCAGCTCTTGA	0.562000													43	79					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74274102	74274102	+	Silent	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:74274102G>A	ENST00000262765.5	-	15	4766	c.4587C>T	c.(4585-4587)caC>caT	p.H1529H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1529							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGCACTGGGCGTGCAGCAGCT	0.622000													32	62					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713600	32713600	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:32713600C>A	ENST00000374940.3	+	3	466	c.364C>A	c.(364-366)Cct>Act	p.P122T		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCAAGTTTCCTGTGACGCT	0.507000													34	68					1.26612e-14	1.35404e-14	1	1	0
PAX1	5075	broad.mit.edu	37	20	21687046	21687046	+	Missense_Mutation	SNP	C	C	T	rs112306597		TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:21687046C>T	ENST00000444366.2	+	1	186	c.185C>T	c.(184-186)tCc>tTc	p.S62F	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000398485.2_Intron			P15863	PAX1_HUMAN	paired box 1	85					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TTCTCCCCCTCCGGCTCACTC	0.662000													24	67					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749741	91749741	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr14:91749741G>C	ENST00000389857.6	-	26	4648	c.4562C>G	c.(4561-4563)tCa>tGa	p.S1521*	CCDC88C_ENST00000331194.7_Nonsense_Mutation_p.S45*	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1521					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCTGAAGTTGAGCAAGTCCG	0.652000													10	23					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241451335	241451335	+	Silent	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:241451335C>T	ENST00000391987.1	-	11	2328	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	ANKMY1_ENST00000272972.3_Silent_p.P654P|ANKMY1_ENST00000401804.1_Silent_p.P743P|ANKMY1_ENST00000373318.2_Silent_p.P513P|ANKMY1_ENST00000373320.4_Silent_p.P424P|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Silent_p.P415P|ANKMY1_ENST00000403283.1_Silent_p.P592P			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	654							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCCCCTCCTCCGGGAGGGCTG	0.667000													32	43					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005805	118005805	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr4:118005805C>T	ENST00000310754.4	-	1	931	c.745G>A	c.(745-747)Ggc>Agc	p.G249S		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	249	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGATATGCCTTTCTGGTAC	0.413000													17	44					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6233023	6233023	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:6233023C>T	ENST00000265978.4	-	12	3032	c.2674G>A	c.(2674-2676)Gca>Aca	p.A892T	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	878					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.A892T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAATTGTGCCGCCTGCCGG	0.627000													5	306					0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780690	39780690	+	Silent	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:39780690C>T	ENST00000311208.8	-	1	139	c.72G>A	c.(70-72)tcG>tcA	p.S24S	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	24	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTGCGGGACGAGCCGCCCC	0.716000													12	14					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50811808	50811808	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:50811808C>G	ENST00000540145.1	+	8	1509	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	CYLD_ENST00000427738.3_Nonsense_Mutation_p.S365*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S365*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S362*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.S362*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S362*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S362*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	365	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TCTGTTGACTCACAACCACAA	0.318000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				18	18					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719975	140719975	+	Silent	SNP	C	C	T	rs141955016	byFrequency	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr5:140719975C>T	ENST00000394576.2	+	1	1437	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATGACCCCGACAGCAACG	0.547000													40	110					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													4	63					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49863257	49863257	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:49863257C>A	ENST00000377214.4	-	1	438	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	TEAD2_ENST00000593945.1_Missense_Mutation_p.G26C|TEAD2_ENST00000598810.1_Missense_Mutation_p.G26C|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000311227.2_Missense_Mutation_p.G26C|TEAD2_ENST00000601519.1_Missense_Mutation_p.G26C			Q15562	TEAD2_HUMAN	TEA domain family member 2	26					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCGCCGGTACCCTCCTCACTG	0.697000													35	90					2.75727e-19	3.033e-19	1	1	0
GPR112	139378	broad.mit.edu	37	X	135405238	135405238	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chrX:135405238G>C	ENST00000394143.1	+	5	663	c.372G>C	c.(370-372)ttG>ttC	p.L124F	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.L61F|GPR112_ENST00000370652.1_Missense_Mutation_p.L124F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	124					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAATATGCTTGATATGGGATG	0.438000													65	91					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	46					0	0	1	0	0
CDIP1	29965	broad.mit.edu	37	16	4563017	4563017	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:4563017G>A	ENST00000399599.3	-	4	838	c.290C>T	c.(289-291)cCa>cTa	p.P97L	CDIP1_ENST00000563507.1_Intron|CDIP1_ENST00000567695.1_Missense_Mutation_p.P97L|CDIP1_ENST00000564828.1_Intron|CDIP1_ENST00000562334.1_Intron|CDIP1_ENST00000563332.2_Missense_Mutation_p.P97L					cell death-inducing p53 target 1																		GTAGGGCCCTGGGGGGTAGTA	0.667000													13	14					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74718497	74718497	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr2:74718497G>C	ENST00000410003.1	+	7	688	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	TTC31_ENST00000233623.5_Missense_Mutation_p.E227Q|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_Missense_Mutation_p.E83Q			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	227							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTGTGGTGAAGAAGAGGTGAG	0.527000													61	114					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427568	119427568	+	Silent	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:119427568C>T	ENST00000369429.3	-	8	1605	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	TBX15_ENST00000207157.3_Silent_p.P426P			Q96SF7	TBX15_HUMAN	T-box 15	532						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCAGTTTTTCCGGGCTTGCAG	0.537000													17	28					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6500033	6500033	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr12:6500033C>T	ENST00000228918.4	+	10	1564	c.1238C>T	c.(1237-1239)gCg>gTg	p.A413V	LTBR_ENST00000539925.1_Missense_Mutation_p.A394V|LTBR_ENST00000541102.1_Missense_Mutation_p.A270V	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	413					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TGGCACCTAGCGGAGACAGAG	0.597000													83	182					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11734849	11734849	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr1:11734849C>T	ENST00000235310.3	-	11	1547	c.619G>A	c.(619-621)Gct>Act	p.A207T	MAD2L2_ENST00000376692.4_Missense_Mutation_p.A207T|MAD2L2_ENST00000376667.3_Missense_Mutation_p.A207T|MAD2L2_ENST00000376669.5_Missense_Mutation_p.A220T|MAD2L2_ENST00000376672.1_Missense_Mutation_p.A220T			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	207	Mediates interaction with ipaB.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-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;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTTATGAGCGCGCTCTTCC	0.612000								DNA polymerases (catalytic subunits)					6	147					0	0	1	0	0
SCN3B	55800	broad.mit.edu	37	11	123513292	123513292	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr11:123513292C>T	ENST00000392770.2	-	3	1109	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	SCN3B_ENST00000299333.3_Missense_Mutation_p.V103M|SCN3B_ENST00000530277.1_Missense_Mutation_p.V103M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	103	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GTGATGGACACGTCCTGCAGG	0.567000													35	98					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496176	52496176	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:52496176G>A	ENST00000602063.1	-	6	2502	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	ZNF615_ENST00000391795.3_Missense_Mutation_p.A723V|ZNF615_ENST00000598071.1_Missense_Mutation_p.A729V|ZNF615_ENST00000376716.5_Missense_Mutation_p.A718V|ZNF615_ENST00000594083.1_Missense_Mutation_p.A729V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AGACAAGTGCGCAAAAGCTTT	0.438000													4	154					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91972401	91972401	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:91972401A>T	ENST00000375807.3	+	15	2260	c.2189A>T	c.(2188-2190)aAc>aTc	p.N730I	SECISBP2_ENST00000534113.2_Missense_Mutation_p.N662I|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N657I	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	730					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTTGCTCTCAACCGCAAAGCT	0.502000													91	184					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892200	2892200	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr18:2892200C>T	ENST00000254528.3	+	4	2234	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGAATGCACGCAGGGGGTC	0.577000													45	105					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32199035	32199035	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:32199035G>A	ENST00000346541.3	+	4	878	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R124Q|CBFA2T2_ENST00000342704.5_Missense_Mutation_p.R105Q|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R85Q|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R114Q	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	114	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGTGGTGCTCGACAACTCAGC	0.512000													7	131					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48268762	48268762	+	Silent	SNP	T	T	C			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:48268762T>C	ENST00000225964.5	-	32	2335	c.2217A>G	c.(2215-2217)ccA>ccG	p.P739P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	739	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCTTAGGCCCTGGAAGACCAG	0.592000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	164					0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3782599	3782599	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:3782599G>A	ENST00000245960.5	+	10	1647	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.R303Q|CDC25B_ENST00000340833.4_Missense_Mutation_p.R276Q|CDC25B_ENST00000379598.5_Missense_Mutation_p.R226Q|CDC25B_ENST00000344256.6_Missense_Mutation_p.R253Q	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	317					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AAGTGCCAGCGGCTCTTCCGC	0.642000													10	20					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48244640	48244640	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr19:48244640G>A	ENST00000263277.3	+	6	1834	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	EHD2_ENST00000538399.1_Missense_Mutation_p.R392H|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	528	EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AACCTGCCCCGTCGCCTGGTG	0.711000													11	12					0	0	1	0	0
CNTFR	1271	broad.mit.edu	37	9	34557637	34557637	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr9:34557637C>A	ENST00000378980.3	-	6	784	c.491G>T	c.(490-492)tGc>tTc	p.C164F	CNTFR_ENST00000351266.4_Missense_Mutation_p.C164F	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	164	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		GCGAATGTGGCAGCGGTTCTT	0.532000													30	56					8.58068e-18	9.30581e-18	1	1	0
HLA-V	352962	broad.mit.edu	37	6	29761783	29761784	+	RNA	INS	-	-	G			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr6:29761783_29761784insG	ENST00000457107.1	+	0	1009_1010																											ggattggtgcaaagccctgctt	0.550													2	4	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13341999	13341999	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr10:13341999delC	ENST00000263038.4	-	1	102	c.44delG	c.(43-45)gcfs	p.G15fs	PHYH_ENST00000396920.3_Intron	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	15					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GCCGAGGTGGCCCAGAACAAT	0.756													2	4	---	---	---	---					
MSLN	10232	broad.mit.edu	37	16	815293	815293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr16:815293delC	ENST00000566549.1	+	8	1111	c.694delC	c.(694-696)ccfs	p.P233fs	MSLN_ENST00000382862.3_Frame_Shift_Del_p.P233fs|MSLN_ENST00000545450.2_Frame_Shift_Del_p.P233fs|MSLN_ENST00000563941.1_Frame_Shift_Del_p.P233fs			Q13421	MSLN_HUMAN	mesothelin	233					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGGCGGGGGACCCCCCTACGG	0.687													4	9	---	---	---	---					
KRT26	353288	broad.mit.edu	37	17	38927945	38927948	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr17:38927945_38927948delTGAC	ENST00000335552.4	-	1	466_469	c.418_421delGTCA	c.(418-423)tafs	p.VI140fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	140	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGATCTTCTATGACTGAGAAGTAT	0.417													23	74	---	---	---	---					
NCOR1P1	149934	broad.mit.edu	37	20	26084384	26084384	+	RNA	DEL	T	T	-			TCGA-P3-A5QE-01A-11D-A28R-08	TCGA-P3-A5QE-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec0573c8-83f2-4f10-9aab-b8ec60764b77	2c1f9488-9283-4b1e-82d3-4f2b595bb3d1	g.chr20:26084384delT	ENST00000478176.1	-	0	150					NR_003678.1																						AAAAAGTCAGTTTTAAACCAC	0.328													4	6	---	---	---	---