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
HIST1H2BK	85236	broad.mit.edu	37	6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:27114499C>T	ENST00000396891.4	-	1	120	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G27S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597000													4	137					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	994173	994173	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:994173G>A	ENST00000448903.2	+	14	2025	c.1884G>A	c.(1882-1884)gaG>gaA	p.E628E	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Silent_p.E629E	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	628					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGACCTGGAGGACACCAAGC	0.647000													16	55					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17764397	17764397	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:17764397C>G	ENST00000378814.5	-	37	5217	c.5218G>C	c.(5218-5220)Gag>Cag	p.E1740Q	KIF13A_ENST00000378816.5_Missense_Mutation_p.E1753Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1740Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1753Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1788Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1788					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGTCATTCTCTAACTTGGAA	0.512000													11	21					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160193564	160193564	+	Silent	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:160193564C>A	ENST00000392783.2	-	33	6180	c.5685G>T	c.(5683-5685)ggG>ggT	p.G1895G	BAZ2B_ENST00000392782.1_Silent_p.G1859G|BAZ2B_ENST00000355831.2_Silent_p.G1861G|BAZ2B_ENST00000343439.5_Silent_p.G1795G	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1895					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATACCCTGAGCCCTGGAGCAA	0.408000													6	58					0.307466	0.307466	1	1	0
TMEM39B	55116	broad.mit.edu	37	1	32557412	32557412	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:32557412C>T	ENST00000427288.1	+	7	862	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	TMEM39B_ENST00000336294.5_Missense_Mutation_p.R243W|TMEM39B_ENST00000456834.2_Missense_Mutation_p.A191V|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.R44W			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	243						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCTGACACTGCGGGAGACGTG	0.647000													3	31					0	0	1	0	0
SDHAP3	0	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													3	42					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911890	158911890	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:158911890C>G	ENST00000368140.1	+	5	948	c.703C>G	c.(703-705)Caa>Gaa	p.Q235E	PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Q226E|PYHIN1_ENST00000392254.2_Missense_Mutation_p.Q235E|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Q226E	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	235	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATGAGCAAAGAAGAAT	0.348000													8	19					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60038232	60038232	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:60038232T>A	ENST00000397786.2	-	23	5552	c.5476A>T	c.(5476-5478)Aat>Tat	p.N1826Y		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1826					androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAATACCTATTTGGAACATCG	0.289000													10	7					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113221318	113221318	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr9:113221318G>T	ENST00000401783.2	-	19	3734	c.3398C>A	c.(3397-3399)cCt>cAt	p.P1133H	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1133H|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1110H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1133					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCTGCATTAGGTTGGTAATA	0.463000													6	66					8.12818e-05	8.53459e-05	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40837076	40837076	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:40837076G>A	ENST00000264638.4	+	4	648	c.431G>A	c.(430-432)cGc>cAc	p.R144H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	144	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCACTGCGCGCTACATCCGC	0.622000													4	46					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	920	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A920V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGAATATGCCCCCTACGGG	0.527000													6	288					0	0	1	0	0
PAX6	5080	broad.mit.edu	37	11	31815294	31815294	+	Silent	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:31815294C>T	ENST00000419022.1	-	11	1332	c.864G>A	c.(862-864)caG>caA	p.Q288Q	PAX6_ENST00000379107.2_Silent_p.Q288Q|PAX6_ENST00000379115.4_Silent_p.Q288Q|PAX6_ENST00000379111.2_Silent_p.Q274Q|PAX6_ENST00000379123.5_Silent_p.Q274Q|PAX6_ENST00000379129.2_Silent_p.Q288Q|PAX6_ENST00000379132.3_Silent_p.Q274Q|PAX6_ENST00000241001.8_Silent_p.Q274Q	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	274	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CCTGTCTTCTCTGATTCCTCA	0.473000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				48	45					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956594	42956594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:42956594G>A	ENST00000541208.1	+	5	1398	c.1029G>A	c.(1027-1029)tgG>tgA	p.W343*	ZNF662_ENST00000440367.2_Nonsense_Mutation_p.W343*|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Nonsense_Mutation_p.W369*|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCTTCATGTGGAACTCAGATC	0.488000													3	45					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25246690	25246690	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr8:25246690G>A	ENST00000276440.7	+	41	4259	c.4215G>A	c.(4213-4215)gcG>gcA	p.A1405A		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1405	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCCCCAATGCGGAGAAGATGA	0.542000													35	50					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55699455	55699455	+	Silent	SNP	G	G	A	rs149252651		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr19:55699455G>A	ENST00000376350.3	-	13	2488	c.2466C>T	c.(2464-2466)gaC>gaT	p.D822D	PTPRH_ENST00000263434.5_Silent_p.D644D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	822	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D822D(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGTACTTGTCTGCAAAAC	0.632000													24	39					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447803	63447803	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr14:63447803G>A	ENST00000322893.7	-	6	997	c.729C>T	c.(727-729)aaC>aaT	p.N243N	KCNH5_ENST00000394968.1_Silent_p.N185N|KCNH5_ENST00000394964.2_Silent_p.N185N|KCNH5_ENST00000420622.2_Silent_p.N243N	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	243					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGGCTATGTTGTTCTGCTTTG	0.413000													11	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr17:7578443A>G	ENST00000420246.2	-	5	619	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000269305.4_Missense_Mutation_p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)		GACTGCTTGTAGATGGCCATG	0.622000		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)			18	12					0	0	1	0	0
SIGLEC15	284266	broad.mit.edu	37	18	43405696	43405696	+	Translation_Start_Site	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr18:43405696G>A	ENST00000389474.3	+	1	220	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	1						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CTCACAGCATGGAAAAGTCCA	0.647000													9	35					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59480400	59480400	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr15:59480400G>A	ENST00000288235.4	-	18	2220	c.1821C>T	c.(1819-1821)gtC>gtT	p.V607V		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	607	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCAAATATTCGACTTGATGCT	0.468000													8	72					0	0	1	0	0
IGKV1-8	0	broad.mit.edu	37	2	89292206	89292206	+	RNA	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:89292206G>A	ENST00000495489.1	-	0	119																											TGGGTCATCCGGATGGCACAT	0.463000													53	114					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365790	67365790	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr18:67365790A>G	ENST00000382713.5	+	5	750	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	187	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTGAGGAGATACGGTCGGGAC	0.468000													7	33					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522000													5	293					0	0	1	0	0
PERP	64065	broad.mit.edu	37	6	138428291	138428291	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:138428291C>T	ENST00000421351.3	-	1	357	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	63					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TGACAGCCCTCCTCGTAGGAC	0.726000													14	46					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45974776	45974776	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr15:45974776C>A	ENST00000260324.7	+	7	1351	c.965C>A	c.(964-966)aCt>aAt	p.T322N	SQRDL_ENST00000568606.1_Missense_Mutation_p.T322N	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	322							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GATAAAGAAACTCTGCAACAC	0.512000													13	32					0.00010058	0.000103033	1	1	0
C10orf54	64115	broad.mit.edu	37	10	73521610	73521610	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr10:73521610G>A	ENST00000394957.3	-	2	314	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	86	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ATGGGCCGGCGCTCTGAGCAG	0.652000													4	46					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152749370	152749370	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:152749370G>A	ENST00000367255.5	-	37	5547	c.4946C>T	c.(4945-4947)gCg>gTg	p.A1649V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1656V|SYNE1_ENST00000367253.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1649V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1719V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1649					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCTCCAGCGCCGTCTGTCT	0.517000										HNSCC(10;0.0054)			61	152					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098732	11098732	+	RNA	SNP	C	C	T	rs73891536		TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr21:11098732C>T	ENST00000470054.1	-	0	193									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctgctccggccgccatcttac	0.632000													22	66					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160602322	160602322	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:160602322A>G	ENST00000259050.3	+	4	510	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MARCH7_ENST00000539065.1_Intron|MARCH7_ENST00000473749.1_Intron|MARCH7_ENST00000409591.1_Missense_Mutation_p.M92V|MARCH7_ENST00000409175.1_Missense_Mutation_p.M130V	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	130	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATCTTCATCAATGGTACTTGG	0.358000													35	66					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31117847	31117847	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr6:31117847C>A	ENST00000396268.3	-	8	1546	c.1358G>T	c.(1357-1359)gGa>gTa	p.G453V	CCHCR1_ENST00000376266.5_Missense_Mutation_p.G364V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G364V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G417V|CCHCR1_ENST00000480060.1_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	364					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGTGACCTGTCCCTTCAGCTG	0.547000													19	48					2.37509e-13	2.6251e-13	1	1	0
GORASP1	64689	broad.mit.edu	37	3	39141919	39141919	+	Silent	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:39141919A>G	ENST00000319283.3	-	6	1463	c.642T>C	c.(640-642)ccT>ccC	p.P214P	GORASP1_ENST00000422110.2_Silent_p.P59P|GORASP1_ENST00000479927.1_Silent_p.P119P	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	214	Pro-rich.				mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTGGGGTGCCAGGTGGCTTCT	0.587000													6	18					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11904136	11904136	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr20:11904136A>G	ENST00000405977.1	+	5	2016	c.1391A>G	c.(1390-1392)gAc>gGc	p.D464G	BTBD3_ENST00000254977.3_Missense_Mutation_p.D403G|BTBD3_ENST00000399006.2_Missense_Mutation_p.D403G|BTBD3_ENST00000378226.2_Missense_Mutation_p.D464G			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	464										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						ATCGAGCCAGACACCTTCTAC	0.502000													14	26					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4910855	4910855	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr16:4910855C>T	ENST00000396658.4	+	6	1565	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	UBN1_ENST00000262376.6_Missense_Mutation_p.P288S|UBN1_ENST00000545171.1_Missense_Mutation_p.P288S|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.P288S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	288					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGCCTCTGACCCCTTGCTCTC	0.572000													22	62					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003458	50003458	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:50003458C>A	ENST00000335238.4	-	1	613	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G194C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACAAAGAGACCAAGGGTATGA	0.408000													14	43					5.01169e-05	5.39721e-05	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	32					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219508077	219508077	+	Silent	SNP	G	G	A			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:219508077G>A	ENST00000411696.2	-	7	3941	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	ZNF142_ENST00000449707.1_Silent_p.G1054G			P52746	ZN142_HUMAN	zinc finger protein 142	1054					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TTCCTCCCCCGCCACGTCCCC	0.602000													17	24					0	0	1	0	0
AC007682.1	0	broad.mit.edu	37	2	51738342	51738342	+	RNA	DEL	T	T	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:51738342delT	ENST00000440698.1	+	0	694																											ATACTGCTGGTTTTGAGAACA	0.483													2	4	---	---	---	---					
AC007682.1	0	broad.mit.edu	37	2	51832659	51832659	+	RNA	DEL	C	C	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr2:51832659delC	ENST00000440698.1	+	0	753																											ctgctcttctccccagtggct	0.607													2	4	---	---	---	---					
DRD3	1814	broad.mit.edu	37	3	113866343	113866344	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:113866343_113866344insC	ENST00000383673.2	-	4	874_875	c.444_445insG	c.(442-447)cggcgtfs	p.R149fs	DRD3_ENST00000295881.7_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000467632.1_Frame_Shift_Ins_p.R149fs|DRD3_ENST00000460779.1_Frame_Shift_Ins_p.R149fs	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	149					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.R149S(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGGGCCACGCGCCGACAGGAGC	0.559													23	41	---	---	---	---					
KBTBD12	166348	broad.mit.edu	37	3	127648992	127648992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr3:127648992delA	ENST00000405109.1	+	4	1825	c.1358delA	c.(1357-1359)gafs	p.E454fs	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Frame_Shift_Del_p.E29fs|KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.E454fs|KBTBD12_ENST00000407609.3_Frame_Shift_Del_p.E61fs			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	454										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTTCCTGATGAAGAACCTGAT	0.393													2	4	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97821361	97821362	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr7:97821361_97821362delTG	ENST00000297293.5	+	11	1877_1878	c.1584_1585delTG	c.(1582-1587)gatcfs	p.DV528fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	528					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCGGCCAGGATGTCCCCCTGAG	0.485													26	34	---	---	---	---					
MMP20	9313	broad.mit.edu	37	11	102487662	102487663	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr11:102487662_102487663delCC	ENST00000260228.2	-	2	266_267	c.254_255delGG	c.(253-255)gfs	p.G85fs	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	85					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GGTCTAACTTCCCGGTGACTTG	0.475													20	52	---	---	---	---					
RRN3P1	0	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs144931984	by1000genomes	TCGA-ZG-A9L1-01A-11D-A41K-08	TCGA-ZG-A9L1-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6e7113-43b8-499c-bbaf-652990f11d43	dbd87a78-31e4-4495-bd8c-2ac34aea261e	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607																											TAAATGaaaataaaaaaataaa	0.302													5	9	---	---	---	---