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
GAD2	2572	broad.mit.edu	37	10	26581861	26581861	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:26581861A>T	ENST00000376261.3	+	15	2028	c.1525A>T	c.(1525-1527)Att>Ttt	p.I509F	GAD2_ENST00000259271.3_Missense_Mutation_p.I509F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	509					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTCTGGTACATTCCTCCAAG	0.453000													71	96					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3306350	3306350	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:3306350G>A	ENST00000219596.1	-	1	277	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	MEFV_ENST00000541159.1_Missense_Mutation_p.R80C|MEFV_ENST00000339854.4_Missense_Mutation_p.R80C|MEFV_ENST00000536379.1_Missense_Mutation_p.R80C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	80	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCCAGCAGGCGCTGGTTGATG	0.642000													4	24					0	0	1	0	0
SAA2	6289	broad.mit.edu	37	11	18266952	18266952	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:18266952C>T	ENST00000526900.1	-	4	524	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.R114Q|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000256733.4_Missense_Mutation_p.R114Q					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCAGCAGGTCGGAAGTGATT	0.577000													7	41					0	0	1	0	0
PCDHGA12	0	broad.mit.edu	37	5	140812194	140812194	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:140812194C>T	ENST00000252085.3	+	1	2010	c.1868C>T	c.(1867-1869)aCg>aTg	p.T623M	PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTGCACACGGGCGAGGTG	0.692000													4	65					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789911	89789911	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:89789911C>T	ENST00000289816.5	+	4	887	c.575C>T	c.(574-576)aCg>aTg	p.T192M	ZNF276_ENST00000446326.2_Missense_Mutation_p.R64W|ZNF276_ENST00000443381.2_Missense_Mutation_p.T267M|ZNF276_ENST00000568064.1_Missense_Mutation_p.R186W	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GACAAAGAGACGGCGCCACGG	0.647000													7	10					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	40					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884693	64884693	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:64884693T>G	ENST00000310597.4	-	1	477	c.433A>C	c.(433-435)Aat>Cat	p.N145H	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	145							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCCGGGGCATTATCCAGCTCC	0.736000													3	10					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67410243	67410243	+	Silent	SNP	G	G	A	rs145815101		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:67410243G>A	ENST00000255082.3	-	8	1082	c.912C>T	c.(910-912)acC>acT	p.T304T	ACY3_ENST00000529256.1_Silent_p.T183T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	304					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGGCAGGCACGGTGAATGTGA	0.577000													5	56					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57013182	57013182	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:57013182G>A	ENST00000370706.4	+	10	2543	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	767					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAATTTAACCGACATGAACAC	0.418000													8	17					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61615448	61615448	+	Silent	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:61615448C>T	ENST00000583023.1	+	7	1535	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH6_ENST00000456941.2_Silent_p.F455F|KCNH6_ENST00000581784.1_Silent_p.F455F|KCNH6_ENST00000314672.5_Silent_p.F508F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	508					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCAGCATCTTCGGGAACGTGT	0.657000													7	16					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360386	55360386	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:55360386C>T	ENST00000398661.2	-	8	847	c.716G>A	c.(715-717)gGc>gAc	p.G239D	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G177D|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G209D|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G106D	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	239							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAACCCATGCCGTACAATCT	0.403000													5	37					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48641726	48641726	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:48641726G>A	ENST00000203407.5	-	5	982	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	189					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GAATGCTGTGGCATGCAGGTA	0.547000													23	61					0	0	1	0	0
MALAT1	0	broad.mit.edu	37	11	65266102	65266102	+	RNA	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:65266102G>A	ENST00000534336.1	+	0	870					NR_002819.2																						GCTCAGTTGCGTAATGGAAAG	0.483000													3	47					0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12253152	12253152	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:12253152G>A	ENST00000376259.3	+	6	873	c.784G>A	c.(784-786)Gtt>Att	p.V262I	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	262					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CGCTCTTCCAGTTGGTAAGTC	0.562000													3	14					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284386	159284386	+	Missense_Mutation	SNP	G	G	A	rs150299321		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:159284386G>A	ENST00000332217.5	-	1	63	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453000													17	106					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887113	25887113	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:25887113C>T	ENST00000376351.3	+	11	2917	c.2558C>T	c.(2557-2559)tCg>tTg	p.S853L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	853						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S853*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAATCCCTGTCGGGTAAAAAA	0.502000													18	34					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72292256	72292256	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr15:72292256G>C	ENST00000356056.5	-	9	1878	c.1406C>G	c.(1405-1407)gCa>gGa	p.A469G	MYO9A_ENST00000424560.1_Missense_Mutation_p.A469G|MYO9A_ENST00000444904.1_Missense_Mutation_p.A450G|MYO9A_ENST00000566885.1_Missense_Mutation_p.A64G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.A469G|RP11-390D11.1_ENST00000568391.1_RNA	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	469	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTAACTAATGCTTCAAATAG	0.328000													3	43					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55603399	55603399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr4:55603399C>T	ENST00000288135.5	+	20	2852	c.2755C>T	c.(2755-2757)Caa>Taa	p.Q919*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	919	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACATTCAAGCAAATTGTTCA	0.468000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				13	53					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10298623	10298623	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:10298623C>T	ENST00000403437.2	-	34	4883	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1597					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTGTCTCCACGACTCTAGTG	0.413000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				14	54					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70603930	70603930	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chrX:70603930G>A	ENST00000449580.1	+	13	2114	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	TAF1_ENST00000423759.1_Missense_Mutation_p.G709E|TAF1_ENST00000373790.4_Missense_Mutation_p.G688E|TAF1_ENST00000276072.3_Missense_Mutation_p.G709E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	688					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGAAAATGGACCCTTAATG	0.413000													13	27					0	0	1	0	0
PARK7	0	broad.mit.edu	37	1	8022930	8022930	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:8022930G>A	ENST00000493678.1	+	2	152	c.85G>A	c.(85-87)Gct>Act	p.A29T	PARK7_ENST00000377491.1_Missense_Mutation_p.A29T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_Missense_Mutation_p.A29T|PARK7_ENST00000338639.5_Missense_Mutation_p.A29T|PARK7_ENST00000377488.1_Missense_Mutation_p.A29T			Q99497	PARK7_HUMAN	parkinson protein 7	29					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CATGAGGCGAGCTGGGGTAAG	0.373000													3	24					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141291620	141291620	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr2:141291620C>T	ENST00000389484.3	-	47	8703	c.7732G>A	c.(7732-7734)Gga>Aga	p.G2578R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2578	LDL-receptor class A 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTTGTCTCCGCAGTCATTT	0.388000										TSP Lung(27;0.18)			4	55					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471719	92471719	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:92471719T>G	ENST00000267622.4	-	11	2974	c.2601A>C	c.(2599-2601)gaA>gaC	p.E867D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	867					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTTCCAATTCTTCTTGCAGAT	0.418000			T	PDGFRB	AML								33	42					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19501477	19501477	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:19501477C>T	ENST00000375267.2	-	21	2827	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	UBR4_ENST00000375226.2_Missense_Mutation_p.E942K|UBR4_ENST00000375254.3_Missense_Mutation_p.E942K|UBR4_ENST00000375217.2_Missense_Mutation_p.E942K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	942					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAATCATCCTCTGAGGCTTCT	0.428000													26	41					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679379	160679379	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:160679379G>A	ENST00000366952.1	-	3	1829	c.348C>T	c.(346-348)acC>acT	p.T116T	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.T137T			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	137					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CTCTTACCTCGGTGACGATGG	0.617000													14	54					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848926	131848926	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr7:131848926C>T	ENST00000359827.3	-	24	5437	c.4475G>A	c.(4474-4476)cGc>cAc	p.R1492H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1492H			Q9HCM2	PLXA4_HUMAN	plexin A4	1492						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AATCTGCTGGCGGATGAGCTT	0.602000													6	24					0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	390566	390566	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:390566G>A	ENST00000356286.5	+	2	769	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000475269.1_Missense_Mutation_p.G22R|RBCK1_ENST00000353660.3_Intron	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	22	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582000													11	62					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64121525	64121525	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:64121525C>T	ENST00000356786.5	+	24	4026	c.3982C>T	c.(3982-3984)Cgg>Tgg	p.R1328W	CCDC88B_ENST00000359902.2_Intron|CCDC88B_ENST00000301897.4_Intron|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1328					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gcggccccggcgggagggggg	0.741000													12	9					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31618456	31618456	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:31618456G>A	ENST00000225823.2	-	1	1550	c.678C>T	c.(676-678)ggC>ggT	p.G226G	ASIC2_ENST00000359872.6_Intron|ASIC2_ENST00000448983.1_5'UTR	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	175					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CGCAGAGCTCGCCGCGGTACT	0.682000													6	36					0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7014862	7014862	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:7014862A>G	ENST00000007969.8	+	2	285	c.65A>G	c.(64-66)gAc>gGc	p.D22G	LRRC23_ENST00000323702.5_Missense_Mutation_p.D22G|LRRC23_ENST00000443597.2_Missense_Mutation_p.D22G|LRRC23_ENST00000436789.1_Missense_Mutation_p.D22G|LRRC23_ENST00000429740.1_Missense_Mutation_p.D22G|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000433346.1_Missense_Mutation_p.D22G	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	22										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						aaagaagaggacgagaaggag	0.512000													5	46					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79355291	79355291	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:79355291C>T	ENST00000350881.2	+	6	951	c.761C>T	c.(760-762)aCc>aTc	p.T254I	THBS4_ENST00000511733.1_Missense_Mutation_p.T163I|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	254					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTGCGAAACACCATAGCTGAA	0.438000													24	49					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814461	137814461	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr2:137814461G>A	ENST00000409968.1	+	3	789	c.611G>A	c.(610-612)cGc>cAc	p.R204H	THSD7B_ENST00000272643.3_Missense_Mutation_p.R204H|THSD7B_ENST00000543459.1_Missense_Mutation_p.R63H|THSD7B_ENST00000413152.2_Missense_Mutation_p.R173H					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATAGAACTCGCGCGGTCATA	0.507000													32	130					0	0	1	0	0
NCOR1P1	0	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1																						aaaacataCATTCTTAGAATA	0.299000													3	9					0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101381877	101381877	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chrX:101381877G>A	ENST00000372780.1	+	3	294	c.75G>A	c.(73-75)ccG>ccA	p.P25P	TCEAL2_ENST00000329035.2_Silent_p.P25P	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AACAGCCACCGCACGAGGGAA	0.428000													3	25					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141381088	141381088	+	Silent	SNP	C	C	T	rs145960296	byFrequency	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:141381088C>T	ENST00000389328.4	-	8	1634	c.1620G>A	c.(1618-1620)tcG>tcA	p.S540S	TRAPPC9_ENST00000389327.3_Silent_p.S433S|TRAPPC9_ENST00000438773.2_Silent_p.S442S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	442					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGGGATCCAGCGACAGACTGT	0.607000													8	131					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48600356	48600356	+	Silent	SNP	C	C	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:48600356C>A	ENST00000323776.5	+	11	1605	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	MYCBPAP_ENST00000436259.2_Silent_p.T444T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	444					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCGAGAAAACCTCCTCAGAAC	0.512000													21	63					2.89027e-11	3.0107e-11	1	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													4	207					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91357953	91357953	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:91357953G>A	ENST00000261172.3	-	7	1041	c.949C>T	c.(949-951)Cct>Tct	p.P317S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	317					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CTCCCAACAGGCAGACGAGGT	0.393000													4	65					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48802925	48802925	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:48802925T>C	ENST00000314191.2	-	33	4017	c.3961A>G	c.(3961-3963)Aca>Gca	p.T1321A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.T1321A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1322					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTGGGCTTGTTCTGTTACCT	0.478000								Non-homologous end-joining					3	46					0	0	1	0	0
ZFYVE27	118813	broad.mit.edu	37	10	99517472	99517472	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:99517472G>C	ENST00000393677.4	+	12	1367	c.1163G>C	c.(1162-1164)gGg>gCg	p.G388A	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.G295A|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.G263A|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.G393A|ZFYVE27_ENST00000453958.2_3'UTR|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.G349A|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.G381A|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.G288A	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	388					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TCCTCCATGGGGGCCACAGGT	0.592000													12	51					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2222434	2222434	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:2222434G>A	ENST00000398665.3	+	24	3302	c.3266G>A	c.(3265-3267)cGg>cAg	p.R1089Q		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1089						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGCCGGCGGAAGCGAGCA	0.726000													8	12					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41132932	41132932	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:41132932G>A	ENST00000308370.7	+	32	4236	c.4236G>A	c.(4234-4236)ccG>ccA	p.P1412P	LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.P780P|LTBP4_ENST00000396819.3_Silent_p.P1345P|LTBP4_ENST00000204005.9_Silent_p.P1375P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1413	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAGCCCCCCGCGACCAGGTG	0.627000													4	26					0	0	1	0	0
TM2D3	80213	broad.mit.edu	37	15	102182733	102182733	+	Silent	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr15:102182733C>T	ENST00000561373.1	-	4	1054	c.498G>A	c.(496-498)ctG>ctA	p.L166L	TM2D3_ENST00000333202.3_Silent_p.L231L|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000347970.3_Silent_p.L205L|TM2D3_ENST00000559107.1_Intron			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	231						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCAATGAGCAGGACGTCTA	0.537000													15	22					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122277717	122277717	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:122277717G>T	ENST00000543163.1	-	15	1427	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	HPD_ENST00000289004.4_Missense_Mutation_p.L367M	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	367					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCCTTGAACAGTGAGTTGAAG	0.607000													7	51					0.000157383	0.000157383	1	1	0
XKR4	114786	broad.mit.edu	37	8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:56436491G>A	ENST00000327381.5	+	3	1758	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592000													4	82					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181759691	181759691	+	Splice_Site	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:181759691T>C	ENST00000526775.1	+	43	6005	c.5841_splice	c.e43+1	p.L1947_splice	CACNA1E_ENST00000367567.4_Splice_Site_p.L1573_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.L1898_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.L1966_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.L1947_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.L1917_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.L1966_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1966					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGCAGTCTCTGGTGAATGCA	0.463000													4	37					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	20					0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061329	38061329	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:38061329G>C	ENST00000250448.2	-	2	721	c.660C>G	c.(658-660)caC>caG	p.H220Q	FOXA1_ENST00000540786.1_Missense_Mutation_p.H187Q|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	220					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGACAGCGAGTGGCGGATGG	0.607000													22	33					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55241684	55241684	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:55241684C>T	ENST00000251091.5	+	8	1789	c.1484C>T	c.(1483-1485)aCg>aTg	p.T495M	SAMD4A_ENST00000554335.1_Missense_Mutation_p.T583M|SAMD4A_ENST00000392067.3_Missense_Mutation_p.T583M|SAMD4A_ENST00000357634.3_Missense_Mutation_p.T582M|SAMD4A_ENST00000555192.1_Missense_Mutation_p.T174M	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	583					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCCTCCCGACGGCTGGCTCT	0.607000													4	44					0	0	1	0	0
WDR5B	54554	broad.mit.edu	37	3	122134323	122134323	+	Missense_Mutation	SNP	G	G	A	rs147814589		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:122134323G>A	ENST00000330689.4	-	1	559	c.53C>T	c.(52-54)tCg>tTg	p.S18L		NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	18										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTGATTGGCCGATGAGGAGAG	0.502000													4	152					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549149	158549149	+	Silent	SNP	T	T	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:158549149T>G	ENST00000368150.1	-	1	540	c.541A>C	c.(541-543)Agg>Cgg	p.R181R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGAGTCCCTGAATATCAGT	0.438000													3	36					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266227	41266227	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:41266227C>T	ENST00000349496.5	+	3	504	c.224C>T	c.(223-225)aCt>aTt	p.T75I	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T75I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T68I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	75					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAGTCCTTCACTCAAGAACAA	0.393000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	29					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37963943	37963943	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:37963943C>G	ENST00000343823.6	+	2	545	c.236C>G	c.(235-237)tCt>tGt	p.S79C	ASH2L_ENST00000250635.7_5'UTR|ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000521652.1_5'UTR|ASH2L_ENST00000428278.2_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	79					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	p.S79C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ACAGAATCATCTAATGGAAAA	0.323000													5	181					0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100457538	100457538	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr7:100457538C>T	ENST00000354161.3	+	8	1134	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SLC12A9_ENST00000540482.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R248C|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R248C|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000475623.1_3'UTR	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	337						integral to membrane|plasma membrane	cation:chloride symporter activity	p.R337S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGGTTCTTCCGCGCCATCAG	0.582000													9	65					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38910708	38910708	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:38910708T>C	ENST00000312150.4	-	2	502	c.442A>G	c.(442-444)Acc>Gcc	p.T148A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	148	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGCTGGTGGTGGATGCGATG	0.373000													4	36					0	0	1	0	0
YIPF5	81555	broad.mit.edu	37	5	143545158	143545158	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:143545158C>G	ENST00000274496.5	-	3	255	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R	YIPF5_ENST00000513112.1_5'UTR|YIPF5_ENST00000448443.2_Missense_Mutation_p.G41R	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	41					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TAGTCATAGCCAGCATACTGT	0.403000													10	43					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66133974	66133974	+	Missense_Mutation	SNP	C	C	A	rs8187657		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:66133974C>A	ENST00000357440.2	-	8	1023	c.795G>T	c.(793-795)gaG>gaT	p.E265D	SLC29A2_ENST00000546034.1_Missense_Mutation_p.E265D|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E265D	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	265					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCGGCTCCTTCTCCAGGTCAA	0.562000													14	38					5.01169e-05	5.07942e-05	1	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					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)		CCACAGAAAAACTCAAAGGAA	0.632000													4	41					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38205427	38205427	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:38205427G>C	ENST00000317025.8	-	2	780	c.263C>G	c.(262-264)tCa>tGa	p.S88*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S88*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	88					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGATTATATGACTGGTATTT	0.408000			T	NUP98	AML								15	393					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78587011	78587011	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:78587011G>A	ENST00000396137.4	+	4	1878	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	472					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CATGGGCAGCGGCTGCTGAAC	0.388000													13	50					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	9000636	9000636	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:9000636A>G	ENST00000264926.2	-	2	217	c.101T>C	c.(100-102)aTt>aCt	p.I34T	RAD18_ENST00000495087.1_Intron	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	34					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TATCATTGCAATGTTGAAATA	0.323000								Rad6 pathway					40	289					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919555	48919555	+	Silent	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:48919555C>T	ENST00000310194.1	+	1	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGCTGCTGCTCATGATCAGGG	0.498000													9	96					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616460	92616460	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:92616460G>A	ENST00000298047.6	+	23	12855	c.12838G>A	c.(12838-12840)Gtg>Atg	p.V4280M	FAT3_ENST00000409404.2_Missense_Mutation_p.V4280M|FAT3_ENST00000533797.1_Missense_Mutation_p.V615M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4130M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4280					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGGCGGGGCGTGGTCGTGTG	0.662000										TCGA Ovarian(4;0.039)			6	47					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3405944	3405944	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:3405944G>T	ENST00000304936.2	+	1	56	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACCAGTGATGGACGGGGTGAA	0.458000													5	24					1.23904e-05	1.27299e-05	1	1	0
SNX5	27131	broad.mit.edu	37	20	17934737	17934737	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:17934737C>T	ENST00000377768.3	-	5	604	c.292G>A	c.(292-294)Gac>Aac	p.D98N	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.D98N	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	98	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CCATCAAAGTCGGGCTTCGTA	0.488000													14	58					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680273	47680273	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:47680273G>A	ENST00000283303.2	+	5	739	c.481G>A	c.(481-483)Gca>Aca	p.A161T	GPR115_ENST00000371220.1_Missense_Mutation_p.A218T|GPR115_ENST00000327753.3_Missense_Mutation_p.A161T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	161					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAATATTGCATTTATAGT	0.333000													7	47					0	0	1	0	0
COL13A1	1305	broad.mit.edu	37	10	71634886	71634886	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:71634886G>A	ENST00000356340.3	+	4	938	c.402G>A	c.(400-402)ggG>ggA	p.G134G	COL13A1_ENST00000398972.3_Silent_p.G134G|COL13A1_ENST00000398968.3_Silent_p.G134G|COL13A1_ENST00000398966.3_Silent_p.G134G|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000517713.1_Silent_p.G134G|COL13A1_ENST00000398971.3_Silent_p.G134G|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000354547.3_Silent_p.G134G|COL13A1_ENST00000398973.3_Silent_p.G134G|COL13A1_ENST00000522165.1_Silent_p.G134G|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000357811.3_Silent_p.G134G|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398978.3_Silent_p.G134G			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	134	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ATCATCAGGGGGACAAAGGTG	0.547000													5	22					0	0	1	0	0
YBX1	4904	broad.mit.edu	37	1	43162925	43162925	+	Silent	SNP	A	A	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:43162925A>C	ENST00000321358.7	+	6	871	c.732A>C	c.(730-732)cgA>cgC	p.R244R		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	244					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATAGACCACGATTCCGCAGGT	0.448000													11	41					0	0	1	0	0
PTMS	5763	broad.mit.edu	37	12	6878832	6878834	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:6878832_6878834delGTG	ENST00000309083.6	+	2	438_440	c.109_111delGTG	c.(109-111)del	p.V38del	PTMS_ENST00000538057.1_3'UTR|PTMS_ENST00000389462.4_In_Frame_Del_p.V38del	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	38	Asp/Glu-rich (acidic).				DNA replication	nucleus				endometrium(2)|large_intestine(2)|liver(1)	5						aaagaaagaagtggtggaggTGT	0.547													12	19	---	---	---	---					
PIK3C3	5289	broad.mit.edu	37	18	39623766	39623767	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr18:39623766_39623767insA	ENST00000262039.4	+	20	2259_2260	c.2173_2174insA	c.(2173-2175)cgtfs	p.R725fs	PIK3C3_ENST00000398870.3_Frame_Shift_Ins_p.R662fs|PIK3C3_ENST00000589056.1_Frame_Shift_Ins_p.R72fs|PIK3C3_ENST00000587402.1_Frame_Shift_Ins_p.R72fs|PIK3C3_ENST00000593098.1_Frame_Shift_Ins_p.R210fs	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	725	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CATGGACACTTACGTTAAAAGC	0.347										TSP Lung(28;0.18)			10	42	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20361340	20361341	+	RNA	INS	-	-	AA			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:20361340_20361341insAA	ENST00000593655.1	-	0	199																											gagcttccttcaagttcacagt	0.401													4	9	---	---	---	---					
OSBP2	23762	broad.mit.edu	37	22	31283571	31283571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr22:31283571delC	ENST00000332585.6	+	4	1370	c.1266delC	c.(1264-1266)ggfs	p.G422fs	OSBP2_ENST00000382310.3_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000403222.3_Frame_Shift_Del_p.G257fs|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000446658.2_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000401475.1_Frame_Shift_Del_p.G56fs|OSBP2_ENST00000407373.1_Frame_Shift_Del_p.G249fs|OSBP2_ENST00000437268.2_Frame_Shift_Del_p.G164fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	422					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGCCCCTGGCCGGCCGGCCA	0.622													2	4	---	---	---	---