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
UFL1	23376	broad.mit.edu	37	6	97000410	97000410	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr6:97000410G>A	ENST00000369278.4	+	18	2104	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	680					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AAAGGTCACAGAAGACCCTGC	0.408000													16	31					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853374	40853374	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr5:40853374C>T	ENST00000254691.5	+	3	2139	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	647					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAGGATATGGCCGCCCTGGCC	0.512000													4	108					0	0	1	0	0
FGF16	8823	broad.mit.edu	37	X	76711832	76711832	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chrX:76711832C>A	ENST00000439435.1	+	2	169	c.169C>A	c.(169-171)Cct>Act	p.P57T				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						AACACCTATGCCTCAACCTTG	0.458000													6	39					0.00307968	0.00334178	1	1	0
ZNF112	7665	broad.mit.edu	37	19	44833292	44833292	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:44833292G>C	ENST00000354340.4	-	4	1069	c.1018C>G	c.(1018-1020)Ctt>Gtt	p.L340V	ZNF112_ENST00000337401.4_Missense_Mutation_p.L346V|ZNF112_ENST00000536500.1_Missense_Mutation_p.L363V	NM_013380.3	NP_037512.3			zinc finger protein 112																		TAAGTGTTAAGAGGGGAACAG	0.378000													6	58					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113711419	113711419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:113711419C>T	ENST00000003302.4	-	5	503	c.435G>A	c.(433-435)tgG>tgA	p.W145*	USP28_ENST00000537706.1_Nonsense_Mutation_p.W145*|USP28_ENST00000545540.1_Nonsense_Mutation_p.W20*|USP28_ENST00000260188.5_Nonsense_Mutation_p.W145*|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	145					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTCTCCCCAGACTTCAC	0.448000													16	29					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184595881	184595881	+	Silent	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:184595881T>C	ENST00000334690.6	+	6	778	c.576T>C	c.(574-576)ttT>ttC	p.F192F	TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.F192F	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	192																	AAAATGCCTTTTATGAACATG	0.299000													5	69					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784514	30784514	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr20:30784514T>C	ENST00000246229.4	-	3	1496	c.1232A>G	c.(1231-1233)aAt>aGt	p.N411S		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	411						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAAGTCCACATTAGCAGCGCA	0.647000													4	17					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5721043	5721043	+	Silent	SNP	C	C	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:5721043C>A	ENST00000382674.2	+	2	427	c.243C>A	c.(241-243)tcC>tcA	p.S81S	EVC_ENST00000509451.1_Silent_p.S81S|EVC_ENST00000264956.6_Silent_p.S81S			P57679	EVC_HUMAN	Ellis van Creveld syndrome	81					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAACTGGCTCCCCATCAAGGA	0.498000													33	42					1.45844e-13	1.61696e-13	1	1	0
PRPF4B	8899	broad.mit.edu	37	6	4031995	4031995	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr6:4031995G>C	ENST00000337659.6	+	2	344	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.E68Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	82	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				caaaagaaaagaGATTATTGA	0.313000													4	52					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr17:39296599T>C	ENST00000345847.4	-	1	140	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682000													4	48					0	0	1	0	0
PTPN3	0	broad.mit.edu	37	9	112151535	112151535	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr9:112151535G>A	ENST00000412145.1	-	17	4391	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	PTPN3_ENST00000374541.2_Missense_Mutation_p.T744M|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.T568M|PTPN3_ENST00000394827.3_Missense_Mutation_p.T212M|PTPN3_ENST00000262539.3_Missense_Mutation_p.T590M	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	744					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGTGAGAGTCGTCAACATGAC	0.498000													9	33					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6732127	6732127	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:6732127C>T	ENST00000264080.7	-	13	1191	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	GPR108_ENST00000430424.4_Missense_Mutation_p.E147K	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	389						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCGCCTTCCTCGCGGGACTCG	0.647000													3	21					0	0	1	0	0
LYN	4067	broad.mit.edu	37	8	56864542	56864542	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:56864542G>A	ENST00000520220.2	+	7	716	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	LYN_ENST00000519728.1_Missense_Mutation_p.V169I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	169	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CTCTCTGTCTGTCAGAGACTT	0.388000													4	145					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3855453	3855453	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:3855453T>A	ENST00000520002.1	-	5	1345	c.790A>T	c.(790-792)Atc>Ttc	p.I264F	CSMD1_ENST00000539096.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602557.1_Missense_Mutation_p.I264F|CSMD1_ENST00000542608.1_Missense_Mutation_p.I264F|CSMD1_ENST00000400186.3_Missense_Mutation_p.I264F|CSMD1_ENST00000537824.1_Missense_Mutation_p.I264F|CSMD1_ENST00000602723.1_Missense_Mutation_p.I264F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	264	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGCCACTGATCTCTAAGAAA	0.517000													6	13					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92958551	92958551	+	Silent	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr14:92958551C>T	ENST00000532405.1	+	16	1909	c.1683C>T	c.(1681-1683)tcC>tcT	p.S561S	SLC24A4_ENST00000531433.1_Silent_p.S542S|SLC24A4_ENST00000393265.2_Silent_p.S497S|SLC24A4_ENST00000298877.1_Silent_p.S544S|SLC24A4_ENST00000351924.5_Silent_p.S525S			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	561						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGGTCTATTCCGTGGTCCTGT	0.507000													13	30					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772618	58772618	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:58772618C>T	ENST00000269829.4	+	7	1120	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	ZNF544_ENST00000415203.2_Missense_Mutation_p.H188Y|ZNF544_ENST00000596652.1_Missense_Mutation_p.H216Y|ZNF544_ENST00000600220.1_Missense_Mutation_p.H188Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.H74Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.H188Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGTGAGAGTCATCAGTGTGC	0.378000													28	48					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76845372	76845372	+	Missense_Mutation	SNP	A	A	C	rs122445110		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chrX:76845372A>C	ENST00000373344.5	-	27	6363	c.6149T>G	c.(6148-6150)aTt>aGt	p.I2050S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I2012S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2050	Helicase C-terminal.		I -> T (in MRXSHF1; originally reported as Carpenter-Waziri syndrome).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAATCTTCAATCAAGTCCAG	0.333000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						17	9					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296600	39296600	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr17:39296600C>T	ENST00000345847.4	-	1	139	c.140G>A	c.(139-141)aGa>aAa	p.R47K		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R47K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCACTGGGGTCTGCAGCAGCT	0.682000													3	50					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747186	158747186	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr1:158747186C>A	ENST00000339258.1	-	1	239	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TAGACAACATCTTAGGGATAG	0.458000													9	80					0.00621372	0.00660207	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38173511	38173511	+	Silent	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:38173511G>A	ENST00000317025.8	-	10	2422	c.1905C>T	c.(1903-1905)cgC>cgT	p.R635R	WHSC1L1_ENST00000527502.1_Silent_p.R635R|WHSC1L1_ENST00000433384.2_Silent_p.R635R	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					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)			CAGTTGAGGCGCGACTCCTTT	0.408000			T	NUP98	AML								13	65					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44641960	44641960	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr20:44641960C>T	ENST00000372330.3	+	9	1416	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	466					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.T466M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCTCCCCCGACGGTCTGCCCC	0.682000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	61					0	0	1	0	0
SPTBN1	0	broad.mit.edu	37	2	54856829	54856829	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr2:54856829A>G	ENST00000333896.5	+	13	2904	c.2519A>G	c.(2518-2520)aAg>aGg	p.K840R	SPTBN1_ENST00000356805.4_Missense_Mutation_p.K853R	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	853					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCCCTGTACAAGATGTTCAGC	0.602000													3	25					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66410195	66410195	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr7:66410195G>A	ENST00000341567.4	+	3	647	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_017994.4	NP_060464.1			transmembrane protein 248																		GGGTATTCCCGCAACGTCACC	0.557000													3	63					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52682215	52682215	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr12:52682215T>A	ENST00000327741.5	-	4	733	c.665A>T	c.(664-666)aAg>aTg	p.K222M	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	222	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGTCTGACTTGCGGAGGTA	0.617000													8	90					0	0	1	0	0
LILRB1	0	broad.mit.edu	37	19	55144611	55144611	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:55144611G>A	ENST00000396331.1	+	8	1460	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	LILRB1_ENST00000396332.4_Missense_Mutation_p.R368H|LILRB1_ENST00000418536.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396315.1_Missense_Mutation_p.R368H|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.R368H|LILRB1_ENST00000427581.2_Missense_Mutation_p.R404H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R368H|LILRB1_ENST00000434867.2_Missense_Mutation_p.R368H|LILRB1_ENST00000396321.2_Missense_Mutation_p.R368H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R368H|LILRB1_ENST00000448689.1_Missense_Mutation_p.R368H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	368	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.R368P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GACCCATGGCGTCTAAGATCA	0.557000										HNSCC(37;0.09)			27	30					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209989	100209989	+	Missense_Mutation	SNP	C	C	T	rs148703034	byFrequency	TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr2:100209989C>T	ENST00000317233.4	-	14	2369	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T	AFF3_ENST00000409236.1_Missense_Mutation_p.A712T|AFF3_ENST00000356421.2_Missense_Mutation_p.A737T|AFF3_ENST00000409579.1_Missense_Mutation_p.A737T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	712					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCGTTGGCAGCGGCCTCCTTC	0.627000													21	43					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	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	47					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137686952	137686952	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr9:137686952C>T	ENST00000371817.3	+	33	3139	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	909	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCAGGACCGCGGGGGCAGCG	0.627000													7	30					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18765570	18765570	+	Missense_Mutation	SNP	C	C	T	rs148524366	by1000genomes	TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:18765570C>T	ENST00000396170.1	-	4	1538	c.274G>A	c.(274-276)Gct>Act	p.A92T	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.A92T|PTPN5_ENST00000396168.1_Missense_Mutation_p.A68T|PTPN5_ENST00000396171.4_Missense_Mutation_p.A92T|PTPN5_ENST00000396167.2_Missense_Mutation_p.A92T	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	92						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGTGAGGCAGCGAACAGGCAC	0.657000													17	39					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5691059	5691059	+	Silent	SNP	C	C	T	rs146658261		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr4:5691059C>T	ENST00000310917.2	-	5	1022	c.291G>A	c.(289-291)tcG>tcA	p.S97S	EVC2_ENST00000344408.5_Silent_p.S177S|EVC2_ENST00000344938.1_Silent_p.S177S	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	177						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTGCTTCACTCGACCCAGACA	0.547000													5	51					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10537029	10537029	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr17:10537029T>G	ENST00000583535.1	-	33	4613	c.4526A>C	c.(4525-4527)gAg>gCg	p.E1509A	MYH3_ENST00000226209.7_Missense_Mutation_p.E1509A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1509					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATCTGCTATCTCCTCTGTAAA	0.408000													46	75					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	35					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10414606	10414606	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr5:10414606C>G	ENST00000274140.5	+	20	2090	c.1958C>G	c.(1957-1959)aCt>aGt	p.T653S	MARCH6_ENST00000449913.2_Missense_Mutation_p.T605S|MARCH6_ENST00000510792.1_Missense_Mutation_p.T351S|MARCH6_ENST00000503788.1_Missense_Mutation_p.T548S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	653					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATCTGCCTTACTTTACCAGGT	0.383000													6	63					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844538	5844538	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:5844538T>C	ENST00000303225.6	-	3	947	c.313A>G	c.(313-315)Atg>Gtg	p.M105V	FUT3_ENST00000589620.1_Missense_Mutation_p.M105V|FUT3_ENST00000458379.2_Missense_Mutation_p.M105V|FUT3_ENST00000589918.1_Missense_Mutation_p.M105V	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	105			T -> M (in Le(-); dbSNP:rs778986).		protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACGATGACCATGTCTGCCTGT	0.607000													4	79					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:73849053C>T	ENST00000523207.1	+	3	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	488					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATCACCTGTCGCCAAGCCGG	0.527000													6	58					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169493105	169493105	+	Silent	SNP	A	A	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr1:169493105A>T	ENST00000367796.3	-	20	6042	c.5841T>A	c.(5839-5841)ggT>ggA	p.G1947G	F5_ENST00000367797.3_Silent_p.G1942G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1942	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TATAAGATCCACCATTGTTTA	0.348000													5	106					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3855496	3855496	+	Silent	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr8:3855496G>A	ENST00000520002.1	-	5	1302	c.747C>T	c.(745-747)gtC>gtT	p.V249V	CSMD1_ENST00000539096.1_Silent_p.V249V|CSMD1_ENST00000602557.1_Silent_p.V249V|CSMD1_ENST00000542608.1_Silent_p.V249V|CSMD1_ENST00000400186.3_Silent_p.V249V|CSMD1_ENST00000537824.1_Silent_p.V249V|CSMD1_ENST00000602723.1_Silent_p.V249V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	249	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTCAGTGAAGACCAGCGCAA	0.542000													7	9					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	4					0.150653	0.150653	1	1	0
PARP4	143	broad.mit.edu	37	13	25075938	25075938	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr13:25075938A>G	ENST00000381989.3	-	3	272	c.167T>C	c.(166-168)cTg>cCg	p.L56P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	56	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTACTGACTCAGAACATCAGC	0.318000													7	62					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3452610	3452610	+	Silent	SNP	G	G	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr19:3452610G>A	ENST00000589123.1	+	8	1308	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	NFIC_ENST00000346156.5_Silent_p.P372P|NFIC_ENST00000341919.3_Silent_p.P405P|NFIC_ENST00000590282.1_Silent_p.P405P|NFIC_ENST00000586919.1_Silent_p.P372P|NFIC_ENST00000443272.2_Silent_p.P405P|NFIC_ENST00000395111.3_Silent_p.P396P	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	405					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P396P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CCCAGGACCCGCTCAAAGATC	0.652000													4	144					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6593109	6593109	+	Nonsense_Mutation	SNP	A	A	T			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr11:6593109A>T	ENST00000254579.6	+	43	14719	c.14155A>T	c.(14155-14157)Aag>Tag	p.K4719*	DNHD1_ENST00000527990.2_Nonsense_Mutation_p.K4719*	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4719					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGGCACCGCTAAGCTGCAGAG	0.617000													32	55					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151879016	151879016	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr7:151879016delG	ENST00000355193.2	-	36	6147	c.5929delC	c.(5929-5931)aafs	p.Q1977fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.Q1977fs					lysine (K)-specific methyltransferase 2C																		TTGGGAAATTGATCTGTCATC	0.458													96	117	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49447072	49447073	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr12:49447072_49447073insA	ENST00000301067.7	-	7	870_871	c.871_872insT	c.(871-873)tgafs	p.*291fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACACGTCTCACAAACCAACATC	0.455													35	50	---	---	---	---					
GLIS2	84662	broad.mit.edu	37	16	4387464	4387464	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr16:4387464delC	ENST00000262366.3	+	8	2335	c.1514delC	c.(1513-1515)gcfs	p.A505fs	GLIS2_ENST00000433375.1_Frame_Shift_Del_p.A505fs|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	505					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAGGCGTTGGCCCCTGGCTGG	0.697													2	4	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-J4-AAU2-01A-11D-A41K-08	TCGA-J4-AAU2-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b340dd39-ff48-4c98-82af-93c100df68eb	845e0bb4-122b-47a9-b106-a8e658bec473	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---					
