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
CD22	933	broad.mit.edu	37	19	35832259	35832259	+	Silent	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr19:35832259C>T	ENST00000085219.5	+	8	1587	c.1521C>T	c.(1519-1521)gaC>gaT	p.D507D	CD22_ENST00000594250.1_Silent_p.D330D|CD22_ENST00000544992.2_Silent_p.D507D|CD22_ENST00000536635.2_Silent_p.D419D|CD22_ENST00000419549.2_Silent_p.D335D|CD22_ENST00000341773.6_Silent_p.D330D|CD22_ENST00000270311.6_Silent_p.D387D	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	507	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCCCCCGAGACGTGAGGGTCC	0.607000													7	27					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126208213	126208213	+	Silent	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:126208213C>T	ENST00000290868.2	-	17	1667	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	UROC1_ENST00000383579.3_Silent_p.P598P	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	538					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCAGGACCACCGGCGCCTGTG	0.597000													15	51					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332530	76332530	+	Silent	SNP	T	T	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:76332530T>G	ENST00000312916.7	+	4	1048	c.666T>G	c.(664-666)ggT>ggG	p.G222G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	222					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACAGCACTGGTTTCTATTATG	0.423000													3	61					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748448	139748448	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:139748448C>T	ENST00000445819.1	+	6	640	c.590C>T	c.(589-591)aCc>aTc	p.T197I	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T197I			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	197	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTTCAGGTGACCTTCTCTGCC	0.607000													17	124					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169454921	169454921	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:169454921G>T	ENST00000256935.8	+	34	3516	c.3436G>T	c.(3436-3438)Gac>Tac	p.D1146Y	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D638Y|DOCK2_ENST00000540750.1_Missense_Mutation_p.D207Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1146	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCGAGGCGACGAGCAGTA	0.512000													8	57					5.18039e-06	5.40563e-06	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													3	31					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56480467	56480467	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr6:56480467C>T	ENST00000370765.6	-	24	7905	c.7798G>A	c.(7798-7800)Gtc>Atc	p.V2600I	DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1896					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTCTGACATATGACTTT	0.363000													18	78					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18880288	18880288	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:18880288G>A	ENST00000317977.6	+	8	1290	c.719G>A	c.(718-720)cGc>cAc	p.R240H	FAM83G_ENST00000345041.4_Intron|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R323H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R240H|FAM83G_ENST00000388995.6_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R323H|FAM83G_ENST00000585154.2_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R323H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R296H			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	323					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATGATCAGCCGCGCATTGTTC	0.627000													9	33					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364661	117364661	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:117364661G>A	ENST00000160373.3	-	19	4478	c.4387C>T	c.(4387-4389)Cgc>Tgc	p.R1463C		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1463										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTCCTGCGAGGACTGGTG	0.502000													8	39					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69177241	69177241	+	Silent	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:69177241G>A	ENST00000563094.1	+	6	721	c.687G>A	c.(685-687)gtG>gtA	p.V229V	CIRH1A_ENST00000352319.4_Silent_p.V229V|CIRH1A_ENST00000314423.7_Silent_p.V229V|CIRH1A_ENST00000569615.2_3'UTR			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	229						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GGACGCTTGTGAAGAGCCATC	0.542000													16	56					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527000													6	383					8.12818e-05	8.30112e-05	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	40					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348421	89348421	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:89348421G>A	ENST00000301030.4	-	9	4989	c.4529C>T	c.(4528-4530)cCg>cTg	p.P1510L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.P1510L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1510	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACGCGGGGCGGGCTGTCCTT	0.637000													7	37					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150415	2150415	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr16:2150415C>G	ENST00000262304.4	-	27	9758	c.9550G>C	c.(9550-9552)Gtg>Ctg	p.V3184L	PKD1_ENST00000423118.1_Missense_Mutation_p.V3184L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3184	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCGTGCCACACTCGGATCTTC	0.667000													18	72					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:100350361T>C	ENST00000542585.1	+	0	2781				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502000													4	113					0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748449	139748449	+	Silent	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:139748449C>T	ENST00000445819.1	+	6	641	c.591C>T	c.(589-591)acC>acT	p.T197T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Silent_p.T197T			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	197	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTCAGGTGACCTTCTCTGCCA	0.607000													17	124					0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14706127	14706127	+	Splice_Site	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr19:14706127G>A	ENST00000547437.1	+	8	522	c.445_splice	c.e8+1	p.A149_splice	CLEC17A_ENST00000397439.2_Splice_Site_p.A132_splice|CLEC17A_ENST00000417570.1_Splice_Site_p.A149_splice	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	149						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										ATCCCTGGCCGGTAAGTGTCC	0.498000													4	141					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													3	49					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66871845	66871845	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:66871845G>A	ENST00000269080.2	-	34	4417	c.4280C>T	c.(4279-4281)aCg>aTg	p.T1427M	ABCA8_ENST00000430352.2_Missense_Mutation_p.T1467M|ABCA8_ENST00000586539.1_Missense_Mutation_p.T1467M	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1427	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.T1427M(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCCCTTTCCGTGTTTCTAAA	0.483000													9	28					0	0	1	0	0
PTK7	0	broad.mit.edu	37	6	43096847	43096847	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr6:43096847C>G	ENST00000230419.4	+	2	433	c.212C>G	c.(211-213)cCt>cGt	p.P71R	PTK7_ENST00000471863.1_Missense_Mutation_p.P71R|PTK7_ENST00000476760.1_Missense_Mutation_p.P71R|PTK7_ENST00000352931.2_Missense_Mutation_p.P71R|PTK7_ENST00000481273.1_Missense_Mutation_p.P79R|PTK7_ENST00000345201.2_Missense_Mutation_p.P71R|PTK7_ENST00000349241.2_Missense_Mutation_p.P71R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	71	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GATGGGGCCCCTGTCCAGGAC	0.682000													4	22					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090747	56090747	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr12:56090747G>A	ENST00000257880.7	-	13	2024	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	ITGA7_ENST00000394229.2_Missense_Mutation_p.S558L|ITGA7_ENST00000347027.6_Missense_Mutation_p.S552L|ITGA7_ENST00000257879.6_Missense_Mutation_p.S558L|ITGA7_ENST00000394230.2_Missense_Mutation_p.S562L|ITGA7_ENST00000452168.2_Missense_Mutation_p.S465L|ITGA7_ENST00000555728.1_Missense_Mutation_p.S602L|ITGA7_ENST00000553804.1_Missense_Mutation_p.S562L			Q13683	ITA7_HUMAN	integrin, alpha 7	602					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACGGTGCCCGAGGCCTGGTG	0.602000													7	18					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr4:155528019C>T	ENST00000404648.3	-	8	1206	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_ENST00000407946.1_Missense_Mutation_p.D331N|FGG_ENST00000336098.3_Missense_Mutation_p.D323N|FGG_ENST00000405164.1_Missense_Mutation_p.D331N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	323	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468000													16	82					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111746717	111746717	+	Splice_Site	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr9:111746717C>G	ENST00000374595.4	-	5	719		c.e5-1		CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1						cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTTTCAAATCCTAAATATGAA	0.338000													9	41					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18836184	18836184	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr12:18836184A>G	ENST00000447925.2	-	15	2079	c.1810T>C	c.(1810-1812)Tac>Cac	p.Y604H	PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.Y388H|PLCZ1_ENST00000534932.1_Missense_Mutation_p.Y87H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.Y413H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.Y411H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.Y606H	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	606					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TATCTGACGTACCAAACATAA	0.338000													3	56					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	33					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897199	51897199	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:51897199T>C	ENST00000333127.3	+	3	337	c.308T>C	c.(307-309)gTg>gCg	p.V103A	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	103	IQ 2.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGAGGGCAGTGATCAAGCTC	0.582000													20	61					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	51					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055795	93055795	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:93055795G>A	ENST00000359558.2	-	16	1699	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	CALCR_ENST00000394441.1_Missense_Mutation_p.A433V|CALCR_ENST00000426151.1_Missense_Mutation_p.A433V|CALCR_ENST00000421592.1_Missense_Mutation_p.A449V|CALCR_ENST00000360249.4_Missense_Mutation_p.A449V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	449					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCCAGCCTCCGCAGCAGCGGC	0.582000													30	99					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	31					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170657516	170657516	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr2:170657516A>C	ENST00000409333.1	+	2	293	c.46A>C	c.(46-48)Aaa>Caa	p.K16Q	SSB_ENST00000260956.4_Missense_Mutation_p.K16Q			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	16	HTH La-type RNA-binding.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTGGAGGCCAAAATCTGTCA	0.333000													3	62					0	0	1	0	0
PCDHGB4	0	broad.mit.edu	37	5	140769422	140769422	+	Silent	SNP	G	G	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr5:140769422G>A	ENST00000519479.1	+	1	1971	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGCCACGTTGCACCTGG	0.662000													15	52					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487559	248487559	+	Silent	SNP	A	A	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:248487559A>G	ENST00000317965.2	-	1	340	c.312T>C	c.(310-312)taT>taC	p.Y104Y		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAATGATATATAGAAGAAAA	0.458000													5	203					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	50					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70347600	70347600	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr15:70347600G>T	ENST00000558939.1	-	15	2752	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	TLE3_ENST00000557997.1_Missense_Mutation_p.Q451K|TLE3_ENST00000560589.1_Missense_Mutation_p.Q403K|TLE3_ENST00000451782.2_Missense_Mutation_p.Q456K|TLE3_ENST00000559191.1_Missense_Mutation_p.Q40K|TLE3_ENST00000560939.1_Missense_Mutation_p.Q461K|TLE3_ENST00000559929.1_Missense_Mutation_p.Q469K|TLE3_ENST00000558201.1_Missense_Mutation_p.Q465K|TLE3_ENST00000440567.3_Missense_Mutation_p.Q449K|TLE3_ENST00000558379.1_Missense_Mutation_p.Q454K|TLE3_ENST00000317509.8_Missense_Mutation_p.Q447K|TLE3_ENST00000559048.1_Missense_Mutation_p.Q459K|TLE3_ENST00000442299.2_Missense_Mutation_p.Q451K|TLE3_ENST00000557907.1_Missense_Mutation_p.Q451K|TLE3_ENST00000539550.1_Missense_Mutation_p.Q386K			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	459					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCACGGGCTGCATCTGCCCA	0.647000													14	39					7.93312e-07	8.462e-07	1	1	0
HGS	9146	broad.mit.edu	37	17	79667788	79667788	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr17:79667788A>G	ENST00000329138.4	+	20	2215	c.2080A>G	c.(2080-2082)Atg>Gtg	p.M694V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	694	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GTCCAGCACCATGGGCTACAT	0.657000													8	25					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315419	30315419	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr10:30315419C>G	ENST00000375377.1	-	3	3759	c.3658G>C	c.(3658-3660)Gta>Cta	p.V1220L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1220										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTTTCTACAAAATGGAAT	0.493000													3	90					0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994549	45994549	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr21:45994549C>A	ENST00000400374.3	+	1	944	c.914C>A	c.(913-915)cCa>cAa	p.P305Q	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	305	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCTGCCAGCCAGCTTGCTGC	0.627000													4	156					0.00909568	0.00909568	1	1	0
PRAMEF10	343071	broad.mit.edu	37	1	12954463	12954463	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:12954463T>G	ENST00000235347.4	-	3	899	c.820A>C	c.(820-822)Ata>Cta	p.I274L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	274										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTTTTTTATATAAAGCATC	0.468000													30	71					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85491926	85491934	+	In_Frame_Del	DEL	CAAAGGCAT	CAAAGGCAT	-	rs147897040		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr1:85491926_85491934delCAAAGGCAT	ENST00000370587.1	-	9	1242_1250	c.866_874delATGCCTTTG	c.(865-876)gtc>g	p.DAFV289del	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_In_Frame_Del_p.DAFV233del|MCOLN3_ENST00000370589.2_In_Frame_Del_p.DAFV289del			Q8TDD5	MCLN3_HUMAN	mucolipin 3	289						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GTCAGAATGACAAAGGCATCAAAGATCAT	0.383													15	148	---	---	---	---					
EBLN2	55096	broad.mit.edu	37	3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A	rs147131789	by1000genomes	TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(247-252)aagacafs	p.T84fs	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.480													6	12	---	---	---	---					
PMS2CL	0	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													4	6	---	---	---	---					
PPIA	5478	broad.mit.edu	37	7	44839402	44839402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:44839402delC	ENST00000468812.1	+	4	336	c.291delC	c.(289-291)atfs	p.I97fs	PPIA_ENST00000489459.1_Frame_Shift_Del_p.I37fs|PPIA_ENST00000355968.6_Frame_Shift_Del_p.I37fs|PPIA_ENST00000451562.1_Frame_Shift_Del_p.I97fs|PPIA_ENST00000480603.1_3'UTR	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	97	PPIase cyclophilin-type.				entry into host cell|leukocyte migration|platelet activation|platelet degranulation|protein folding|provirus integration|regulation of viral genome replication|RNA-dependent DNA replication|uncoating of virus	cytosol|extracellular region|nucleus	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding|virion binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GTCCTGGCATCTTGTCCATGG	0.483													18	59	---	---	---	---					
STAG3L2	0	broad.mit.edu	37	7	74306371	74306372	+	RNA	INS	-	-	G			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr7:74306371_74306372insG	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCGCAGTGGGCGGGGGGCCCCG	0.733													2	4	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													4	6	---	---	---	---					
RP4-777D9.2	0	broad.mit.edu	37	20	21146805	21146805	+	RNA	DEL	G	G	-			TCGA-ZG-A9LS-01A-12D-A41K-08	TCGA-ZG-A9LS-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4abc737-dce4-4f3a-bcf4-f826187389e8	853f7d71-27a4-4d1e-b104-ca23d4c7e575	g.chr20:21146805delG	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							TTTTTTTTTTGTCCATGAGGC	0.383													3	6	---	---	---	---