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
LPHN2	23266	broad.mit.edu	37	1	82409004	82409004	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:82409004A>G	ENST00000370728.1	+	8	1394	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C			O95490	LPHN2_HUMAN	latrophilin 2	250	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.Y250C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATGCCAACTACCATGATACC	0.403													30	130	---	---	---	---
NEK7	140609	broad.mit.edu	37	1	198233329	198233329	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:198233329A>G	ENST00000367385.4	+	5	678	c.336A>G	c.(334-336)gaA>gaG	p.E112E	NEK7_ENST00000538004.1_Silent_p.E112E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	112	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E112E(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TAGTTTTGGAACTAGCAGATG	0.299													25	201	---	---	---	---
ATXN7	6314	broad.mit.edu	37	3	63898514	63898514	+	Silent	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:63898514G>A	ENST00000398590.3	+	3	793	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E|ATXN7_ENST00000487717.1_Silent_p.E80E	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	80					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.E80E(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTCGGGGAGCGCAGGCCTC	0.711													6	29	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64554181	64554181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:64554181G>A	ENST00000498707.1	-	29	4729	c.4387C>T	c.(4387-4389)Caa>Taa	p.Q1463*	ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1463	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q1463*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACATTTCGTTGTTTATGCCCT	0.428													32	153	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150509002	150509002	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr5:150509002G>T	ENST00000354546.5	-	12	1111	c.884C>A	c.(883-885)aCc>aAc	p.T295N	ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	295						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATACTTGGTCCGGAAGAT	0.557													7	54	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26428149	26428149	+	RNA	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:26428149A>G	ENST00000466808.2	+	0	1118																		p.M253V(1)									GCCTGTTATCATGATTATTCT	0.428													67	236	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33138676	33138676	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:33138676C>T	ENST00000341947.2	-	46	3612	c.3385G>A	c.(3385-3387)Gga>Aga	p.G1129R	COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1129	Triple-helical region.			EPGARGP -> GAGGLGT (in Ref. 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1129R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAGCTCCGGGCTCCCCA	0.577													8	141	---	---	---	---
TMEM246	84302	broad.mit.edu	37	9	104239189	104239189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr9:104239189G>T	ENST00000374851.1	-	4	1333	c.186C>A	c.(184-186)agC>agA	p.S62R	TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	62						integral to membrane		p.S62R(2)									GGAACTCTTGGCTCATTTGGT	0.547													30	91	---	---	---	---
C10orf68	79741	broad.mit.edu	37	10	32856778	32856778	+	Translation_Start_Site	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856778G>A	ENST00000375028.3	+	0	15				C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68									p.G460S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTCAGATTCAGGTGGACAAAG	0.328													9	89	---	---	---	---
CCDC7	221016	broad.mit.edu	37	10	32856779	32856779	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856779G>T	ENST00000362006.5	+	16	1922	c.1379G>T	c.(1378-1380)gGt>gTt	p.G460V	C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V|C10orf68_ENST00000375028.3_5'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460V(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATTCAGGTGGACAAAGG	0.328													9	89	---	---	---	---
API5	8539	broad.mit.edu	37	11	43345105	43345105	+	Silent	SNP	A	A	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:43345105A>C	ENST00000378852.3	+	6	794	c.669A>C	c.(667-669)ctA>ctC	p.L223L	API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000531273.1_Silent_p.L223L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000534695.1_Intron	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	223					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L223L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGCCGACCTAGAACAGACCT	0.463													34	158	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70319095	70319095	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:70319095T>C	ENST00000338508.4	-	33	5431	c.5432A>G	c.(5431-5433)aAt>aGt	p.N1811S	SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1431					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.N1811S(1)|p.N1215S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCGATCTCATTGTCCATGAA	0.478													55	245	---	---	---	---
CARD16	114769	broad.mit.edu	37	11	104915235	104915235	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:104915235T>G	ENST00000375706.2	-	2	175	c.158A>C	c.(157-159)aAg>aCg	p.K53T	CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.K53T(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						AGCTCGGGTCTTATCCATAAC	0.428													96	447	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43777766	43777766	+	Silent	SNP	A	A	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:43777766A>G	ENST00000389420.3	-	30	4466	c.4467T>C	c.(4465-4467)tgT>tgC	p.C1489C		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1489	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.C1489C(2)|p.S1489S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCAGAGCCACAGGTCACAG	0.413													4	56	---	---	---	---
TM9SF2	9375	broad.mit.edu	37	13	100206634	100206634	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:100206634C>T	ENST00000376387.4	+	14	1755	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	522					transport	endosome membrane|integral to plasma membrane		p.P522L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAGCCCTTGCCTGGTATTATC	0.418													43	154	---	---	---	---
TEKT1	83659	broad.mit.edu	37	17	6716186	6716186	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr17:6716186C>G	ENST00000338694.2	-	6	945	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	272					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.K272N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCCTGGCATCCTTTGTATCCT	0.527													32	158	---	---	---	---
DYRK1A	1859	broad.mit.edu	37	21	38858790	38858790	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr21:38858790G>A	ENST00000339659.4	+	5	1981	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.V180M(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATATGATCGTGTGGAGCAAGA	0.308													36	167	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:70349258C>T	ENST00000333646.6	+	26	3869	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34	---	---	---	---
ZCCHC12	170261	broad.mit.edu	37	X	117959282	117959282	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:117959282G>A	ENST00000310164.2	+	4	582	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.M25I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CCCATTCCATGCTGAGGTCCC	0.572													25	46	---	---	---	---
GNPNAT1	64841	broad.mit.edu	37	14	53245162	53245163	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:53245162_53245163delAG	ENST00000216410.3	-	6	608_609	c.421_422delCT	c.(421-423)cttfs	p.L141fs	GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	141	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TAGCAAAGTAAGGGTTGATAAT	0.292													24	130	---	---	---	---
